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132 results on '"Peczkowska, Mariola"'

1. Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

Author

Yukina, Marina, Cohen, Debbie L, Waguespack, Steven G, Pereira, Maria Adelaide Albergaria, He, Xin, Bandgar, Tushar, Donatini, Gianluca, Qi, Xiao-Ping, Cohn, Aviva, Roslyakova, Anna, Letizia, Claudio, Fishbein, Lauren, Kaur, Ravinder Jeet, Iniguez-Ariza, Nicole, Murad, Mohammad H, Gruber, Lucinda, Wachtel, Heather, Cherenko, Sergiy, Jimenez, Camilo, Else, Tobias, Ramteke-Jadhav, Swati, Fang, Xu-dong, Vaidya, Anand, Petramala, Luigi, Beltsevich, Dmitry, Walz, Martin K, Corssmit, Eleonora P.M., Wohllk, Nelson, Tufton, Nicola, Links, Thera P, Ferrara, Alfonso Massimiliano, Tsoy, Uliana, Donegan, Diane, Peczkowska, Mariola, Timmers, Henri J, Morelli, Valentina, Ebbehoj, Andreas, Kirschner, Lawrence S, Kunavisarut, Tada, Larsson, Catharina, Kudlai, Inna, Hasse-Lazar, Kornelia, Barczyński, Marcin, Deutschbein, Timo, Langton, Katharina, Rasmussen, Åse Krogh, Dvorakova, Sarka, Miller, Julie A, Liu, Longfei, Bennett, Bonita, Huang, Ya-Sheng, Yu, Zhi-xian, Kumar Jaiswal, Sanjeet, Shah, Nalini, Diaz, Rene E, Dullaart, Robin P.F, Akker, Scott A, Drake, William M, Boaretto, Francesca, Zovato, Stefania, Barbon, Giovanni, Taschin, Elisa, Schiavi, Francesca, Grineva, Elena, Rappaport, Maximilien, Skierczynski, Paul, Fassnacht, Martin, Calissendorff, Jan, Juhlin, C Christofer, Vlĕek, Petr, Li, Minghao, Jonasch, Eric, Prokop, Larry, Jovanovic, Milan, Lechan, Ronald M, Erenler, Feyza, Garla, Vishnu, Bobryk, Maryna, Kovalenko, Andrey Y, Hodson, Emma, Jenner, Bernadette, Simpson, Helen L, Casey, Ruth T, Gimm, Oliver, Ngeow Yuen Yie, Joanne, Shafigullina, Zulfiya, Martins Bugalho, Maria João, Rizzati, Silvia, Fraenkel, Merav, Sherlock, Mark, Sarma, Dipti, Kaimal Saikia, Uma, Riester, Anna, Quinkler, Marcus, Zschiedrich, Stefan, Seufert, Jochen, Bausch, Birke, Zavrashvili, Nino, Søndergaard, Esben, Mathiesen, Jes Sloth, Robaczyk, Maciej G, Poulsen, Per Løgstrup, Vasilkova, Volha, Costa-Barbosa, Flavia A, Kater, Claudio E, Yildirim Simsir, Ilgin, Ugurlu, M. Umit, Soyaltin, Utku E, Makay, Özer, Ivanov, Nikita V, Opocher, Giuseppe, Egorov, Viacheslav I, Petrov, Roman, Khudiakova, Natalia V, Bancos, Irina, Atkinson, Elizabeth, Eng, Charis, Young, William F, Jr, and Neumann, Hartmut P H

Published
2021
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2. Left Ventricular Structural and Functional Alterations in Patients With Pheochromocytoma/Paraganglioma Before and After Surgery

Author

Dobrowolski, Piotr, Januszewicz, Andrzej, Klisiewicz, Anna, Gosk-Przybyłek, Maria, Pęczkowska, Mariola, Kabat, Marek, Kwapiszewska, Aleksandra, Warchoł-Celińska, Ewa, Ambroziak, Urszula, Doroszko, Adrian, Toutounchi, Sadegh, Gałązka, Zbigniew, Bednarczuk, Tomasz, Górnicka, Barbara, Januszewicz, Magdalena, Hoffman, Piotr, Lenders, Jacques W.M., Eisenhofer, Graeme, and Prejbisz, Aleksander

Published
2020
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3. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Author

Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, Kornelia, Sanso, Gabriella, Else, Tobias, Dvorakova, Sarka, Qi, Xiao Ping, Elisei, Rossella, Maia, Ana Luisa, Glod, John, Lourenço, Delmar Muniz, Jr, Valdes, Nuria, Mathiesen, Jes, Wohllk, Nelson, Bandgar, Tushar R, Drui, Delphine, Korbonits, Marta, Druce, Maralyn R, Brain, Caroline, Kurzawinski, Tom, Patocs, Atila, Bugalho, Maria Joao, Lacroix, Andre, Caron, Philippe, Fainstein-Day, Patricia, Borson Chazot, Francoise, Klein, Marc, Links, Thera P, Letizia, Claudio, Fugazzola, Laura, Chabre, Olivier, Canu, Letizia, Cohen, Regis, Tabarin, Antoine, Spehar Uroic, Anita, Maiter, Dominique, Laboureau, Sandrine, Mian, Caterina, Peczkowska, Mariola, Sebag, Frederic, Brue, Thierry, Mirebeau-Prunier, Delphine, Leclerc, Laurence, Bausch, Birke, Berdelou, Amandine, Sukurai, Akihiro, Vlcek, Petr, Krajewska, Jolanta, Barontini, Marta, Vaz Ferreira Vargas, Carla, Valerio, Laura, Ceolin, Lucieli, Akshintala, Srivandana, Hoff, Ana, Godballe, Christian, Jarzab, Barbara, Jimenez, Camilo, Eng, Charis, Imai, Tsuneo, Schlumberger, Martin, Grubbs, Elizabeth, Dralle, Henning, Neumann, Hartmut P, and Baudin, Eric

Published
2019
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4. Systematic and Multidisciplinary Evaluation of Fibromuscular Dysplasia Patients Reveals High Prevalence of Previously Undetected Fibromuscular Dysplasia Lesions and Affects Clinical Decisions: The ARCADIA-POL Study

Author

Warchol-Celinska, Ewa, Prejbisz, Aleksander, Dobrowolski, Piotr, Klisiewicz, Anna, Kadziela, Jacek, Florczak, Elzbieta, Michalowska, Ilona, Jozwik-Plebanek, Katarzyna, Kabat, Marek, Kwiatek, Pawel, Nazarewski, Slawomir, Madej, Krzysztof, Rowinski, Olgierd, Swiatlowski, Lukasz, Peczkowska, Mariola, Hanus, Katarzyna, Talarowska, Paulina, Smolski, Mikołaj, Kowalczyk, Katarzyna, Kurkowska-Jastrzebska, Iwona, Stefanczyk, Ludomir, Wiecek, Andrzej, Widecka, Krystyna, Tykarski, Andrzej, Stryczynski, Lukasz, Litwin, Mieczyslaw, Hoffman, Piotr, Witkowski, Adam, Szczerbo-Trojanowska, Malgorzata, Januszewicz, Magdalena, and Januszewicz, Andrzej

Published
2020
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6. Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, primary, Boedeker, Carsten C., primary, Rybicki, Lisa A., primary, Robledo, Mercedes, primary, Hermsen, Mario, primary, Schiavi, Francesca, primary, Falcioni, Maurizio, primary, Kwok, Pingling, primary, Bauters, Catherine, primary, Lampe, Karen, primary, Fischer, Markus, primary, Edelman, Emily, primary, Benn, Diana E., primary, Robinson, Bruce G., primary, Wiegand, Stefanie, primary, Rasp, Gerd, primary, Stuck, Boris A., primary, Hoffmann, Michael M., primary, Sullivan, Maren, primary, Sevilla, Maria A., primary, Weiss, Marjan M., primary, Peczkowska, Mariola, primary, Kubaszek, Agata, primary, Pigny, Pascal, primary, Ward, Robyn L., primary, Learoyd, Diana, primary, Croxson, Michael, primary, Zabolotny, Dmitry, primary, Yaremchuk, Svetlana, primary, Draf, Wolfgang, primary, Muresan, Mihaela, primary, Lorenz, Robert R., primary, Knipping, Stephan, primary, Strohm, Michael, primary, Dyckhoff, Gerhard, primary, Matthias, Christoph, primary, Reisch, Nicole, primary, Preuss, Simon F., primary, Eβer, Dirk, primary, Walter, Martin A., primary, Kaftan, Holger, primary, Stöver, Timo, primary, Fottner, Christian, primary, Gorgulla, Harald, primary, Malekpour, Mahdi, primary, Zarandy, Masoud Motasaddi, primary, Schipper, Jörg, primary, Brase, Christoph, primary, Glien, Alexander, primary, Kühnemund, Matthias, primary, Koscielny, Sven, primary, Schwerdtfeger, Peter, primary, Välimäki, Matti, primary, Szyfter, Witold, primary, Finckh, Ulrich, primary, Zerres, Klaus, primary, Cascon, Alberto, primary, Opocher, Giuseppe, primary, Ridder, Gerd J., primary, Januszewicz, Andrzej, primary, Suarez, Carlos, primary, and Eng, Charis, primary

Published
2023
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7. Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, primary, Boedeker, Carsten C., primary, Rybicki, Lisa A., primary, Robledo, Mercedes, primary, Hermsen, Mario, primary, Schiavi, Francesca, primary, Falcioni, Maurizio, primary, Kwok, Pingling, primary, Bauters, Catherine, primary, Lampe, Karen, primary, Fischer, Markus, primary, Edelman, Emily, primary, Benn, Diana E., primary, Robinson, Bruce G., primary, Wiegand, Stefanie, primary, Rasp, Gerd, primary, Stuck, Boris A., primary, Hoffmann, Michael M., primary, Sullivan, Maren, primary, Sevilla, Maria A., primary, Weiss, Marjan M., primary, Peczkowska, Mariola, primary, Kubaszek, Agata, primary, Pigny, Pascal, primary, Ward, Robyn L., primary, Learoyd, Diana, primary, Croxson, Michael, primary, Zabolotny, Dmitry, primary, Yaremchuk, Svetlana, primary, Draf, Wolfgang, primary, Muresan, Mihaela, primary, Lorenz, Robert R., primary, Knipping, Stephan, primary, Strohm, Michael, primary, Dyckhoff, Gerhard, primary, Matthias, Christoph, primary, Reisch, Nicole, primary, Preuss, Simon F., primary, Eβer, Dirk, primary, Walter, Martin A., primary, Kaftan, Holger, primary, Stöver, Timo, primary, Fottner, Christian, primary, Gorgulla, Harald, primary, Malekpour, Mahdi, primary, Zarandy, Masoud Motasaddi, primary, Schipper, Jörg, primary, Brase, Christoph, primary, Glien, Alexander, primary, Kühnemund, Matthias, primary, Koscielny, Sven, primary, Schwerdtfeger, Peter, primary, Välimäki, Matti, primary, Szyfter, Witold, primary, Finckh, Ulrich, primary, Zerres, Klaus, primary, Cascon, Alberto, primary, Opocher, Giuseppe, primary, Ridder, Gerd J., primary, Januszewicz, Andrzej, primary, Suarez, Carlos, primary, and Eng, Charis, primary

Published
2023
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8. Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, primary, Boedeker, Carsten C., primary, Rybicki, Lisa A., primary, Robledo, Mercedes, primary, Hermsen, Mario, primary, Schiavi, Francesca, primary, Falcioni, Maurizio, primary, Kwok, Pingling, primary, Bauters, Catherine, primary, Lampe, Karen, primary, Fischer, Markus, primary, Edelman, Emily, primary, Benn, Diana E., primary, Robinson, Bruce G., primary, Wiegand, Stefanie, primary, Rasp, Gerd, primary, Stuck, Boris A., primary, Hoffmann, Michael M., primary, Sullivan, Maren, primary, Sevilla, Maria A., primary, Weiss, Marjan M., primary, Peczkowska, Mariola, primary, Kubaszek, Agata, primary, Pigny, Pascal, primary, Ward, Robyn L., primary, Learoyd, Diana, primary, Croxson, Michael, primary, Zabolotny, Dmitry, primary, Yaremchuk, Svetlana, primary, Draf, Wolfgang, primary, Muresan, Mihaela, primary, Lorenz, Robert R., primary, Knipping, Stephan, primary, Strohm, Michael, primary, Dyckhoff, Gerhard, primary, Matthias, Christoph, primary, Reisch, Nicole, primary, Preuss, Simon F., primary, Eβer, Dirk, primary, Walter, Martin A., primary, Kaftan, Holger, primary, Stöver, Timo, primary, Fottner, Christian, primary, Gorgulla, Harald, primary, Malekpour, Mahdi, primary, Zarandy, Masoud Motasaddi, primary, Schipper, Jörg, primary, Brase, Christoph, primary, Glien, Alexander, primary, Kühnemund, Matthias, primary, Koscielny, Sven, primary, Schwerdtfeger, Peter, primary, Välimäki, Matti, primary, Szyfter, Witold, primary, Finckh, Ulrich, primary, Zerres, Klaus, primary, Cascon, Alberto, primary, Opocher, Giuseppe, primary, Ridder, Gerd J., primary, Januszewicz, Andrzej, primary, Suarez, Carlos, primary, and Eng, Charis, primary

Published
2023
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9. Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, primary, Boedeker, Carsten C., primary, Rybicki, Lisa A., primary, Robledo, Mercedes, primary, Hermsen, Mario, primary, Schiavi, Francesca, primary, Falcioni, Maurizio, primary, Kwok, Pingling, primary, Bauters, Catherine, primary, Lampe, Karen, primary, Fischer, Markus, primary, Edelman, Emily, primary, Benn, Diana E., primary, Robinson, Bruce G., primary, Wiegand, Stefanie, primary, Rasp, Gerd, primary, Stuck, Boris A., primary, Hoffmann, Michael M., primary, Sullivan, Maren, primary, Sevilla, Maria A., primary, Weiss, Marjan M., primary, Peczkowska, Mariola, primary, Kubaszek, Agata, primary, Pigny, Pascal, primary, Ward, Robyn L., primary, Learoyd, Diana, primary, Croxson, Michael, primary, Zabolotny, Dmitry, primary, Yaremchuk, Svetlana, primary, Draf, Wolfgang, primary, Muresan, Mihaela, primary, Lorenz, Robert R., primary, Knipping, Stephan, primary, Strohm, Michael, primary, Dyckhoff, Gerhard, primary, Matthias, Christoph, primary, Reisch, Nicole, primary, Preuss, Simon F., primary, Eβer, Dirk, primary, Walter, Martin A., primary, Kaftan, Holger, primary, Stöver, Timo, primary, Fottner, Christian, primary, Gorgulla, Harald, primary, Malekpour, Mahdi, primary, Zarandy, Masoud Motasaddi, primary, Schipper, Jörg, primary, Brase, Christoph, primary, Glien, Alexander, primary, Kühnemund, Matthias, primary, Koscielny, Sven, primary, Schwerdtfeger, Peter, primary, Välimäki, Matti, primary, Szyfter, Witold, primary, Finckh, Ulrich, primary, Zerres, Klaus, primary, Cascon, Alberto, primary, Opocher, Giuseppe, primary, Ridder, Gerd J., primary, Januszewicz, Andrzej, primary, Suarez, Carlos, primary, and Eng, Charis, primary

Published
2023
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10. Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, primary, Boedeker, Carsten C., primary, Rybicki, Lisa A., primary, Robledo, Mercedes, primary, Hermsen, Mario, primary, Schiavi, Francesca, primary, Falcioni, Maurizio, primary, Kwok, Pingling, primary, Bauters, Catherine, primary, Lampe, Karen, primary, Fischer, Markus, primary, Edelman, Emily, primary, Benn, Diana E., primary, Robinson, Bruce G., primary, Wiegand, Stefanie, primary, Rasp, Gerd, primary, Stuck, Boris A., primary, Hoffmann, Michael M., primary, Sullivan, Maren, primary, Sevilla, Maria A., primary, Weiss, Marjan M., primary, Peczkowska, Mariola, primary, Kubaszek, Agata, primary, Pigny, Pascal, primary, Ward, Robyn L., primary, Learoyd, Diana, primary, Croxson, Michael, primary, Zabolotny, Dmitry, primary, Yaremchuk, Svetlana, primary, Draf, Wolfgang, primary, Muresan, Mihaela, primary, Lorenz, Robert R., primary, Knipping, Stephan, primary, Strohm, Michael, primary, Dyckhoff, Gerhard, primary, Matthias, Christoph, primary, Reisch, Nicole, primary, Preuss, Simon F., primary, Eβer, Dirk, primary, Walter, Martin A., primary, Kaftan, Holger, primary, Stöver, Timo, primary, Fottner, Christian, primary, Gorgulla, Harald, primary, Malekpour, Mahdi, primary, Zarandy, Masoud Motasaddi, primary, Schipper, Jörg, primary, Brase, Christoph, primary, Glien, Alexander, primary, Kühnemund, Matthias, primary, Koscielny, Sven, primary, Schwerdtfeger, Peter, primary, Välimäki, Matti, primary, Szyfter, Witold, primary, Finckh, Ulrich, primary, Zerres, Klaus, primary, Cascon, Alberto, primary, Opocher, Giuseppe, primary, Ridder, Gerd J., primary, Januszewicz, Andrzej, primary, Suarez, Carlos, primary, and Eng, Charis, primary

Published
2023
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12. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

Author

Castinetti, Frederic, Qi, Xiao-Ping, Walz, Martin K, Maia, Ana Luiza, Sansó, Gabriela, Peczkowska, Mariola, Hasse-Lazar, Kornelia, Links, Thera P, Dvorakova, Sarka, Toledo, Rodrigo A, Mian, Caterina, Bugalho, Maria Joao, Wohllk, Nelson, Kollyukh, Oleg, Canu, Letizia, Loli, Paola, Bergmann, Simona R, Costa, Josefina Biarnes, Makay, Ozer, Patocs, Attila, Pfeifer, Marija, Shah, Nalini S, Cuny, Thomas, Brauckhoff, Michael, Bausch, Birke, von Dobschuetz, Ernst, Letizia, Claudio, Barczynski, Marcin, Alevizaki, Maria K, Czetwertynska, Malgorzata, Ugurlu, M Umit, Valk, Gerlof, Plukker, John T M, Sartorato, Paola, Siqueira, Debora R, Barontini, Marta, Szperl, Malgorzata, Jarzab, Barbara, Verbeek, Hans H G, Zelinka, Tomas, Vlcek, Petr, Toledo, Sergio P A, Coutinho, Flavia L, Mannelli, Massimo, Recasens, Monica, Demarquet, Lea, Petramala, Luigi, Yaremchuk, Svetlana, Zabolotnyi, Dmitry, Schiavi, Francesca, Opocher, Giuseppe, Racz, Karoly, Januszewicz, Andrzej, Weryha, Georges, Henry, Jean-Francois, Brue, Thierry, Conte-Devolx, Bernard, Eng, Charis, and Neumann, Hartmut P H

Published
2014
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13. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Author

Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Söderkvist, Peter, Stenman, Adam, Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A., Peczkowska, Mariola, Prejbisz, Aleksander, Jarzab, Barbara, Hasse-Lazar, Kornelia, Petersenn, Stephan, Moeller, Lars C., Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Özer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe, Eng, Charis, and Neumann, Hartmut P. H.

Published
2017
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16. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

Author

Schiavi, Francesca, Boedeker, Carsten C., Bausch, Brike, Peczkowska, Mariola, omez, Clara Fuentes, Hoffmann, Michael M., Berlis, Ansgar, Schipper, Jorg, Neumann, Hartmut P.H., Szuthowski, Zbigniew, Salzmann, Maren, Walz, Martin K., Opocher, Giuseppe, Buchta, Mary, Cybulla, Markus, Kawecki, Andrzej, Pigny, Pascal, Eng, Charis, Valimaki, Matti, Bauters, Catherine, Januszewicz, Andrzej, Pawlu, Christian, Muresan, Mihaela, Forrer, Flavio, Brink, Ingo, Willet-Brozick, Joan E., Baysal, Bora E., Strassburg, Thomas, and Walter, Martin A.

Subjects
Succinates -- Genetic aspects, Gene mutations -- Research, Gliomas -- Genetic aspects
Abstract

The prevalence and clinical characteristics of succinate dehydrogenase (SDH)C mutation carrier compared with patients with SDHB and SDHD mutations and with sporadic cases is determined. Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal.

Published
2005

17. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

Author

Neumann, Hartmut P. H., Pawlu, Christian, Peczkowska, Mariola, Bausch, Birke, McWhinney, Sarah R., Muresan, Mihaela, Franke, Gerlind, Buchta, Mary, Klisch, Joachim, Bley, Thorstem A., Hoegerle, Stefan, Boedeker, Carsten C., Opocher, Giuseppe, Januszewicz, Andrzej, Schipper, Jorg, and Eng, Charis

Subjects
Fluke infections -- Genetic aspects, Fluke infections -- Research, Gene mutations -- Research
Abstract

An attempt is made to determine the differences in clinical features in carriers of succinate dehydrogenase subunit B (SDHB) mutations and succinate dehydrogenase subunit D (SDHD) mutations. Results reveal that in contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutations carriers (PGL-4) are more likely to develop malignant disease.

Published
2004

18. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

Author

Vanharanta, Sakari, Buchta, Mary, McWhinney, Sarah R., Virta, Sanna K., Peczkowska, Mariola, Morrison, Carl D., Lehtonen, Rainer, Januszewicz, Andrzej, Jarvinen, Heikki, Juhola, Matti, Mecklin, Jukka-Pekka, Pukkala, Eero, Herva, Riitta, Kiuru, Maija, Nupponen, Nina N., Aaltonen, Lauri A., Neumann, Hartmut P.H., and Eng, Charis

Subjects
Chromaffin cells, Oxidoreductases, Familial diseases, Pheochromocytoma, Adrenal gland diseases, Von Hippel-Lindau disease, Carcinoma, Renal cell, Gene mutations, Human genetics, Biological sciences
Published
2004

19. Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

Author

Bancos, Irina, primary, Atkinson, Elizabeth, additional, Eng, Charis, additional, Young, William F, additional, Neumann, Hartmut P H, additional, Yukina, Marina, additional, Cohen, Debbie L, additional, Waguespack, Steven G, additional, Pereira, Maria Adelaide Albergaria, additional, He, Xin, additional, Bandgar, Tushar, additional, Donatini, Gianluca, additional, Qi, Xiao-Ping, additional, Cohn, Aviva, additional, Roslyakova, Anna, additional, Letizia, Claudio, additional, Fishbein, Lauren, additional, Kaur, Ravinder Jeet, additional, Iniguez-Ariza, Nicole, additional, Murad, Mohammad H, additional, Gruber, Lucinda, additional, Wachtel, Heather, additional, Cherenko, Sergiy, additional, Jimenez, Camilo, additional, Else, Tobias, additional, Ramteke-Jadhav, Swati, additional, Fang, Xu-dong, additional, Vaidya, Anand, additional, Petramala, Luigi, additional, Beltsevich, Dmitry, additional, Walz, Martin K, additional, Corssmit, Eleonora P.M., additional, Wohllk, Nelson, additional, Tufton, Nicola, additional, Links, Thera P, additional, Ferrara, Alfonso Massimiliano, additional, Tsoy, Uliana, additional, Donegan, Diane, additional, Peczkowska, Mariola, additional, Timmers, Henri J, additional, Morelli, Valentina, additional, Ebbehoj, Andreas, additional, Kirschner, Lawrence S, additional, Kunavisarut, Tada, additional, Larsson, Catharina, additional, Kudlai, Inna, additional, Hasse-Lazar, Kornelia, additional, Barczyński, Marcin, additional, Deutschbein, Timo, additional, Langton, Katharina, additional, Rasmussen, Åse Krogh, additional, Dvorakova, Sarka, additional, Miller, Julie A, additional, Liu, Longfei, additional, Bennett, Bonita, additional, Huang, Ya-Sheng, additional, Yu, Zhi-xian, additional, Kumar Jaiswal, Sanjeet, additional, Shah, Nalini, additional, Diaz, Rene E, additional, Dullaart, Robin P.F, additional, Akker, Scott A, additional, Drake, William M, additional, Boaretto, Francesca, additional, Zovato, Stefania, additional, Barbon, Giovanni, additional, Taschin, Elisa, additional, Schiavi, Francesca, additional, Grineva, Elena, additional, Rappaport, Maximilien, additional, Skierczynski, Paul, additional, Fassnacht, Martin, additional, Calissendorff, Jan, additional, Juhlin, C Christofer, additional, Vlĕek, Petr, additional, Li, Minghao, additional, Jonasch, Eric, additional, Prokop, Larry, additional, Jovanovic, Milan, additional, Lechan, Ronald M, additional, Erenler, Feyza, additional, Garla, Vishnu, additional, Bobryk, Maryna, additional, Kovalenko, Andrey Y, additional, Hodson, Emma, additional, Jenner, Bernadette, additional, Simpson, Helen L, additional, Casey, Ruth T, additional, Gimm, Oliver, additional, Ngeow Yuen Yie, Joanne, additional, Shafigullina, Zulfiya, additional, Martins Bugalho, Maria João, additional, Rizzati, Silvia, additional, Fraenkel, Merav, additional, Sherlock, Mark, additional, Sarma, Dipti, additional, Kaimal Saikia, Uma, additional, Riester, Anna, additional, Quinkler, Marcus, additional, Zschiedrich, Stefan, additional, Seufert, Jochen, additional, Bausch, Birke, additional, Zavrashvili, Nino, additional, Søndergaard,, Esben, additional, Mathiesen, Jes Sloth, additional, Robaczyk, Maciej G, additional, Poulsen, Per Løgstrup, additional, Vasilkova, Volha, additional, Costa-Barbosa, Flavia A, additional, Kater, Claudio E, additional, Yildirim Simsir, Ilgin, additional, Ugurlu, M. Umit, additional, Soyaltin, Utku E, additional, Makay, Özer, additional, Ivanov, Nikita V, additional, Opocher, Giuseppe, additional, Egorov, Viacheslav I, additional, Petrov, Roman, additional, and Khudiakova, Natalia V, additional

Published
2021
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20. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Author

Frank-Raue, Karin, Rybicki, Lisa A., Erlic, Zoran, Schweizer, Heiko, Winter, Aurelia, Milos, Ioana, Toledo, Sergio P.A., Toledo, Rodrigo A., Tavares, Marcos R., Alevizaki, Maria, Mian, Caterina, Siggelkow, Heide, Hüfner, Michael, Wohllk, Nelson, Opocher, Giuseppe, Dvořáková, Šárka, Bendlova, Bela, Czetwertynska, Małgorzata, Skasko, Elżbieta, Barontini, Marta, Sanso, Gabriela, Vorländer, Christian, Maia, Ana Luiza, Patocs, Attila, Links, Thera P., de Groot, Jan Willem, Kerstens, Michiel N., Valk, Gerlof D., Miehle, Konstanze, Musholt, Thomas J., Biarnes, Josefina, Damjanovic, Svetozar, Muresan, Mihaela, Wüster, Christian, Fassnacht, Martin, Peczkowska, Mariola, Fauth, Christine, Golcher, Henriette, Walter, Martin A., Pichl, Josef, Raue, Friedhelm, Eng, Charis, and Neumann, Hartmut P.H.

Published
2011
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21. Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

Author

Larsen, Louise Vølund, primary, Mirebeau-Prunier, Delphine, additional, Imai, Tsuneo, additional, Alvarez-Escola, Cristina, additional, Hasse-Lazar, Kornelia, additional, Censi, Simona, additional, Castroneves, Luciana A, additional, Sakurai, Akihiro, additional, Kihara, Minoru, additional, Horiuchi, Kiyomi, additional, Barbu, Véronique Dorine, additional, Borson-Chazot, Francoise, additional, Gimenez-Roqueplo, Anne-Paule, additional, Pigny, Pascal, additional, Pinson, Stephane, additional, Wohllk, Nelson, additional, Eng, Charis, additional, Aydogan, Berna Imge, additional, Saranath, Dhananjaya, additional, Dvorakova, Sarka, additional, Castinetti, Frederic, additional, Patocs, Attila, additional, Bergant, Damijan, additional, Links, Thera P, additional, Peczkowska, Mariola, additional, Hoff, Ana O, additional, Mian, Caterina, additional, Dwight, Trisha, additional, Jarzab, Barbara, additional, Neumann, Hartmut P H, additional, Robledo, Mercedes, additional, Uchino, Shinya, additional, Barlier, Anne, additional, Godballe, Christian, additional, and Mathiesen, Jes Sloth, additional

Published
2020
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23. Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

Author

Larsen, Louise Vølund, Mirebeau-Prunier, Delphine, Imai, Tsuneo, Alvarez-Escola, Cristina, Hasse-Lazar, Kornelia, Censi, Simona, Castroneves, Luciana A, Sakurai, Akihiro, Kihara, Minoru, Horiuchi, Kiyomi, Barbu, Véronique Dorine, Borson-Chazot, Françoise, Gimenez-Roqueplo, Anne-Paule, Pigny, Pascal, Pinson, Stephane, Wohllk, Nelson, Eng, Charis, Aydoğan, Berna İmge, Saranath, Dhananjaya, Dvorakova, Sarka, Castinetti, Frederic, Attila, Patocs, Bergant, Damijan, Links, Thera P, Peczkowska, Mariola, Hoff, Ana O, Mian, Caterina, Dwight, Trisha, Jarzab, Barbara, Neumann, Hartmut P H, Robledo, Mercedes, Uchino, Shinya, Barlier, Anne, Godballe, Christian, and Mathiesen, Jes Sloth

Subjects
multiple endocrine neoplasia type 2A, medullary thyroid carcinoma, primary hyperparathyroidism, multiple endocrine neoplasia type 2A, RET, medullary thyroid carcinoma, pheochromocytoma, primary hyperparathyroidism, RET, pheochromocytoma
Published
2020

24. Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Author

Bausch, Birke, Borozdin, Wiktor, Mautner, Victor F., Hoffmann, Michael M., Boehm, Detlef, Robledo, Mercedes, Cascon, Alberto, Harenberg, Tomas, Schiavi, Francesca, Pawlu, Christian, Peczkowska, Mariola, Letizia, Claudio, Calvieri, Stefano, Arnaldi, Giorgio, Klingenberg-Noftz, Rolf D., Reisch, Nicole, Fassina, Ambrogio, Brunaud, Laurent, Walter, Martin A., Mannelli, Massimo, MacGregor, Graham, Palazzo, F Fausto, Barontini, Marta, Walz, Martin K., Kremens, Bernhard, Brabant, Georg, Pfäffle, Roland, Koschker, Ann-Cathrin, Lohoefner, Felix, Mohaupt, Markus, Gimm, Oliver, Jarzab, Barbara, McWhinney, Sarah R., Opocher, Giuseppe, Januszewicz, Andrzej, Kohlhase, Jürgen, Eng, Charis, and Neumann, Hartmut P. H.

Published
2007

28. Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy

Author

Neumann, Hartmut P. H., Tsoy, Uliana, Bancos, Irina, Amodru, Vincent, Walz, Martin K., Tirosh, Amit, Kaur, Ravinder Jeet, McKenzie, Travis, Qi, Xiaoping, Bandgar, Tushar, Petrov, Roman, Yukina, Marina Y., Roslyakova, Anna, van der Horst-Schrivers, Anouk N. A., Berends, Annika M. A., Hoff, Ana O., Castroneves, Luciana Audi, Ferrara, Alfonso Massimiliano, Rizzati, Silvia, Mian, Caterina, Dvorakova, Sarka, Hasse-Lazar, Kornelia, Kvachenyuk, Andrey, Peczkowska, Mariola, Loli, Paola, Erenler, Feyza, Krauss, Tobias, Almeida, Madson Q., Liu, Longfei, Zhu, Feizhou, Recasens, Monica, Wohllk, Nelson, Corssmit, Eleonora P. M., Shafigullina, Zulfiya, Calissendorff, Jan, Grozinsky-Glasberg, Simona, Kunavisarut, Tada, Schalin-Jantti, Camilla, Castinetti, Frederic, Vlcek, Petr, Beltsevich, Dmitry, Egorov, Viacheslav I, Schiavi, Francesca, Links, Thera P., Lechan, Ronald M., Bausch, Birke, Young, William F. Jr., Eng, Charis, Jaiswal, Sanjeet Kumar, Zschiedrich, Stefan, Fragoso, Maria C. B. V, Pereira, Maria A. A., Li, Minghao, Biarnes Costa, Josefina, Juhlin, Carl Christofer, Gross, David, Violante, Alice H. D., Kocjan, Tomaz, Ngeow, Joanne, Yoel, Uri, Fraenkel, Merav, Simsir, Ilgin Yildirim, Ugurlu, M. Umit, Ziagaki, Athanasia, Robles Diaz, Luis, Kudlai, Inna Stepanovna, Gimm, Oliver, Scherbaum, Christina Rebecca, Abebe-Campino, Gadi, Barbon, Giovanni, Taschin, Elisa, Malinoc, Angelica, Khudiakova, Natalia Valeryevna, Ivanov, Nikita V, Pfeifer, Marija, Zovato, Stefania, Ploeckinger, Ursula, Makay, Ozer, Grineva, Elena, Jarzab, Barbara, Januszewicz, Andrzej, Shah, Nalini, Seufert, Jochen, Opocher, Giuseppe, Larsson, Catharina, Neumann, Hartmut P. H., Tsoy, Uliana, Bancos, Irina, Amodru, Vincent, Walz, Martin K., Tirosh, Amit, Kaur, Ravinder Jeet, McKenzie, Travis, Qi, Xiaoping, Bandgar, Tushar, Petrov, Roman, Yukina, Marina Y., Roslyakova, Anna, van der Horst-Schrivers, Anouk N. A., Berends, Annika M. A., Hoff, Ana O., Castroneves, Luciana Audi, Ferrara, Alfonso Massimiliano, Rizzati, Silvia, Mian, Caterina, Dvorakova, Sarka, Hasse-Lazar, Kornelia, Kvachenyuk, Andrey, Peczkowska, Mariola, Loli, Paola, Erenler, Feyza, Krauss, Tobias, Almeida, Madson Q., Liu, Longfei, Zhu, Feizhou, Recasens, Monica, Wohllk, Nelson, Corssmit, Eleonora P. M., Shafigullina, Zulfiya, Calissendorff, Jan, Grozinsky-Glasberg, Simona, Kunavisarut, Tada, Schalin-Jantti, Camilla, Castinetti, Frederic, Vlcek, Petr, Beltsevich, Dmitry, Egorov, Viacheslav I, Schiavi, Francesca, Links, Thera P., Lechan, Ronald M., Bausch, Birke, Young, William F. Jr., Eng, Charis, Jaiswal, Sanjeet Kumar, Zschiedrich, Stefan, Fragoso, Maria C. B. V, Pereira, Maria A. A., Li, Minghao, Biarnes Costa, Josefina, Juhlin, Carl Christofer, Gross, David, Violante, Alice H. D., Kocjan, Tomaz, Ngeow, Joanne, Yoel, Uri, Fraenkel, Merav, Simsir, Ilgin Yildirim, Ugurlu, M. Umit, Ziagaki, Athanasia, Robles Diaz, Luis, Kudlai, Inna Stepanovna, Gimm, Oliver, Scherbaum, Christina Rebecca, Abebe-Campino, Gadi, Barbon, Giovanni, Taschin, Elisa, Malinoc, Angelica, Khudiakova, Natalia Valeryevna, Ivanov, Nikita V, Pfeifer, Marija, Zovato, Stefania, Ploeckinger, Ursula, Makay, Ozer, Grineva, Elena, Jarzab, Barbara, Januszewicz, Andrzej, Shah, Nalini, Seufert, Jochen, Opocher, Giuseppe, and Larsson, Catharina

Abstract

IMPORTANCE Large studies investigating long-term outcomes of patients with bilateral pheochromocytomas treated with either total or cortical-sparing adrenalectomies are needed to inform clinical management. OBJECTIVE To determine the association of total vs cortical-sparing adrenalectomy with pheochromocytoma-specific mortality, the burden of primary adrenal insufficiency after bilateral adrenalectomy, and the risk of pheochromocytoma recurrence. DESIGN, SETTING, AND PARTICIPANTS This cohort study used data from a multicenter consortium-based registry for 625 patients treated for bilateral pheochromocytomas between 1950 and 2018. Data were analyzed from September 1, 2018, to June 1, 2019. EXPOSURES Total or cortical-sparing adrenalectomy. MAIN OUTCOMES AND MEASURES Primary adrenal insufficiency, recurrent pheochromocytoma, and mortality. RESULTS Of 625 patients (300 [48%] female) with a median (interquartile range [IQR]) age of 30 (22-40) years at diagnosis, 401 (64%) were diagnosed with synchronous bilateral pheochromocytomas and 224 (36%) were diagnosed with metachronous pheochromocytomas (median [IQR] interval to second adrenalectomy, 6 [1-13] years). In 505 of 526 tested patients (96%), germline mutationswere detected in the genes RET (282 patients [54%]), VHL (184 patients [35%]), and other genes (39 patients [7%]). Of 849 adrenalectomies performed in 625 patients, 324 (52%) were planned as cortical sparing and were successful in 248 of 324 patients (76.5%). Primary adrenal insufficiency occurred in all patients treated with total adrenalectomy but only in 23.5% of patients treated with attempted cortical-sparing adrenalectomy. A third of patients with adrenal insufficiency developed complications, such as adrenal crisis or iatrogenic Cushing syndrome. Of 377 patients who became steroid dependent, 67 (18%) developed at least 1 adrenal crisis and 50 (13%) developed iatrogenic Cushing syndrome during median (IQR) follow-up of 8 (3-25) years. Two patients develope

Published
2019
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29. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, Kornelia, Sanso, Gabriella, Else, Tobias, Dvorakova, Sarka, Qi, Xiao Ping, Elisei, Rossella, Maia, Ana Luisa, Glod, John, Lourenço, Delmar Muniz, Valdes, Nuria, Mathiesen, Jes, Wohllk, Nelson, Bandgar, Tushar R, Drui, Delphine, Korbonits, Marta, Druce, Maralyn R, Brain, Caroline, Kurzawinski, Tom, Patocs, Atila, Bugalho, Maria Joao, Lacroix, Andre, Caron, Philippe, Fainstein-Day, Patricia, Borson Chazot, Francoise, Klein, Marc, Links, Thera P, Letizia, Claudio, Fugazzola, Laura, Chabre, Olivier, Canu, Letizia, Cohen, Regis, Tabarin, Antoine, Spehar Uroic, Anita, Maiter, Dominique, Laboureau, Sandrine, Mian, Caterina, Peczkowska, Mariola, Sebag, Frederic, Brue, Thierry, Mirebeau-Prunier, Delphine, Leclerc, Laurence, Bausch, Birke, Berdelou, Amandine, Sukurai, Akihiro, Vlcek, Petr, Krajewska, Jolanta, Barontini, Marta, Vaz Ferreira Vargas, Carla, Valerio, Laura, Ceolin, Lucieli, Akshintala, Srivandana, Hoff, Ana, Godballe, Christian, Jarzab, Barbara, Jimenez, Camilo, Eng, Charis, Imai, Tsuneo, Schlumberger, Martin, Grubbs, Elizabeth, Dralle, Henning, Neumann, Hartmut P, Baudin, Eric, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, Kornelia, Sanso, Gabriella, Else, Tobias, Dvorakova, Sarka, Qi, Xiao Ping, Elisei, Rossella, Maia, Ana Luisa, Glod, John, Lourenço, Delmar Muniz, Valdes, Nuria, Mathiesen, Jes, Wohllk, Nelson, Bandgar, Tushar R, Drui, Delphine, Korbonits, Marta, Druce, Maralyn R, Brain, Caroline, Kurzawinski, Tom, Patocs, Atila, Bugalho, Maria Joao, Lacroix, Andre, Caron, Philippe, Fainstein-Day, Patricia, Borson Chazot, Francoise, Klein, Marc, Links, Thera P, Letizia, Claudio, Fugazzola, Laura, Chabre, Olivier, Canu, Letizia, Cohen, Regis, Tabarin, Antoine, Spehar Uroic, Anita, Maiter, Dominique, Laboureau, Sandrine, Mian, Caterina, Peczkowska, Mariola, Sebag, Frederic, Brue, Thierry, Mirebeau-Prunier, Delphine, Leclerc, Laurence, Bausch, Birke, Berdelou, Amandine, Sukurai, Akihiro, Vlcek, Petr, Krajewska, Jolanta, Barontini, Marta, Vaz Ferreira Vargas, Carla, Valerio, Laura, Ceolin, Lucieli, Akshintala, Srivandana, Hoff, Ana, Godballe, Christian, Jarzab, Barbara, Jimenez, Camilo, Eng, Charis, Imai, Tsuneo, Schlumberger, Martin, Grubbs, Elizabeth, Dralle, Henning, Neumann, Hartmut P, and Baudin, Eric

Abstract

BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. METHODS: This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. FINDINGS: 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range <1-59). Thyroidectomy was done before the age of 1 year in 20 patients, which led to long-term remission (ie, undetectable calcitonin level) in 15 (83%) of 18 individuals (2 patients died of causes unrelated to medullary thyroid carcinoma). Medullary thyroid carcinoma-specific survival curves did not show any significant difference between patients who had thyroidectomy before or after 1 year (comparison of survival curves by log-rank test: p=0·2; hazard ratio 0·35; 95% CI 0.07-1.74). However, there was a significant difference in remission status between patients who underwent thyroidectomy before and after the age of 1 year (p<0·0001). There was a significant difference in remission status between patients who underwen

Published
2019

30. Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors

Author

Krauss, Tobias, primary, Ferrara, Alfonso Massimiliano, additional, Links, Thera P, additional, Wellner, Ulrich, additional, Bancos, Irina, additional, Kvachenyuk, Andrey, additional, Villar Gómez de las Heras, Karina, additional, Yukina, Marina Y, additional, Petrov, Roman, additional, Bullivant, Garrett, additional, von Duecker, Laura, additional, Jadhav, Swati, additional, Ploeckinger, Ursula, additional, Welin, Staffan, additional, Schalin-Jäntti, Camilla, additional, Gimm, Oliver, additional, Pfeifer, Marija, additional, Ngeow, Joanne, additional, Hasse-Lazar, Kornelia, additional, Sansó, Gabriela, additional, Qi, Xiaoping, additional, Ugurlu, M Umit, additional, Diaz, Rene E, additional, Wohllk, Nelson, additional, Peczkowska, Mariola, additional, Aberle, Jens, additional, Lourenço, Delmar M, additional, Pereira, Maria A A, additional, Fragoso, Maria C B V, additional, Hoff, Ana O, additional, Almeida, Madson Q, additional, Violante, Alice H D, additional, Quidute, Ana R P, additional, Zhang, Zhewei, additional, Recasens, Mònica, additional, Díaz, Luis Robles, additional, Kunavisarut, Tada, additional, Wannachalee, Taweesak, additional, Sirinvaravong, Sirinart, additional, Jonasch, Eric, additional, Grozinsky-Glasberg, Simona, additional, Fraenkel, Merav, additional, Beltsevich, Dmitry, additional, Egorov, Viacheslav I, additional, Bausch, Dirk, additional, Schott, Matthias, additional, Tiling, Nikolaus, additional, Pennelli, Gianmaria, additional, Zschiedrich, Stefan, additional, Därr, Roland, additional, Ruf, Juri, additional, Denecke, Timm, additional, Link, Karl-Heinrich, additional, Zovato, Stefania, additional, von Dobschuetz, Ernst, additional, Yaremchuk, Svetlana, additional, Amthauer, Holger, additional, Makay, Özer, additional, Patocs, Attila, additional, Walz, Martin K, additional, Huber, Tobias B, additional, Seufert, Jochen, additional, Hellman, Per, additional, Kim, Raymond H, additional, Kuchinskaya, Ekaterina, additional, Schiavi, Francesca, additional, Malinoc, Angelica, additional, Reisch, Nicole, additional, Jarzab, Barbara, additional, Barontini, Marta, additional, Januszewicz, Andrzej, additional, Shah, Nalini, additional, Young, William F, additional, Opocher, Giuseppe, additional, Eng, Charis, additional, Neumann, Hartmut P H, additional, and Bausch, Birke, additional

Published
2018
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31. 65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Author

Neumann, Hartmut P, primary, Young, William F, additional, Krauss, Tobias, additional, Bayley, Jean-Pierre, additional, Schiavi, Francesca, additional, Opocher, Giuseppe, additional, Boedeker, Carsten C, additional, Tirosh, Amit, additional, Castinetti, Frederic, additional, Ruf, Juri, additional, Beltsevich, Dmitry, additional, Walz, Martin, additional, Groeben, Harald-Thomas, additional, von Dobschuetz, Ernst, additional, Gimm, Oliver, additional, Wohllk, Nelson, additional, Pfeifer, Marija, additional, Lourenço, Delmar M, additional, Peczkowska, Mariola, additional, Patocs, Attila, additional, Ngeow, Joanne, additional, Makay, Özer, additional, Shah, Nalini S, additional, Tischler, Arthur, additional, Leijon, Helena, additional, Pennelli, Gianmaria, additional, Villar Gómez de las Heras, Karina, additional, Links, Thera P, additional, Bausch, Birke, additional, and Eng, Charis, additional

Published
2018
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32. Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors

Author

Krauss, Tobias, Ferrara, Alfonso Massimiliano, Links, Thera P., Wellner, Ulrich, Bancoss, Irina, Kvachenyuk, Andrey, Gomez de las Heras, Karim Villar, Yukina, Marina Y., Petrov, Roman, Bullivant, Garrett, von Duecker, Laura, Jadhav, Swati, Ploeckinger, Ursula, Welin, Staffan, Schalin-Jantti, Camilla, Gimm, Oliver, Pfeifer, Marija, Ngeow, Joanne, Hasse-Lazar, Kornelia, Sanso, Gabriela, Qi, Xiaoping, Ugurlu, M. Umit, Diaz, Rene E., Wohllk, Nelson, Peczkowska, Mariola, Aberle, Jens, Lourenco Jr, Delmar M., Pereira, Maria A. A., Fragoso, Maria C. B., V, Hoff, Ana O., Almeida, Madson Q., Violante, Alice H. D., Ouidute, Ana R. P., Zhang, Zhewei, Recasens, Monica, Robles Diaz, Luis, Kunavisarut, Tada, Wannachalee, Taweesak, Sirinvaravong, Sirinart, Jonasch, Eric, Grozinsky-Glasberg, Simona, Fraenkel, Merav, Beltsevich, Dmitry, Egorov, Viacheslav, I, Bausch, Dirk, Schott, Matthias, Tiling, Nikolaus, Pennelli, Gianmaria, Zschiedrich, Stefan, Daerr, Roland, Ruf, Juri, Denecke, Timm, Link, Karl-Heinrich, Zovato, Stefania, von Dobschuetz, Ernst, Yaremchuk, Svetlana, Amthauer, Holger, Makay, Ozer, Patocs, Attila, Walz, Martin K., Huber, Tobias B., Seufert, Jochen, Hellman, Per, Ekaterina, Raymond H., Kuchinskaya, Ekaterina, Schiavi, Francesca, Malinoc, Angelica, Reisch, Nicole, Jarzab, Barbara, Barontini, Marta, Januszewicz, Andrzej, Shah, Nalini, Young, William F., Jr., Opocher, Giuseppe, Eng, Charis, Neumann, Hartmut P. H., Bausch, Birke, Krauss, Tobias, Ferrara, Alfonso Massimiliano, Links, Thera P., Wellner, Ulrich, Bancoss, Irina, Kvachenyuk, Andrey, Gomez de las Heras, Karim Villar, Yukina, Marina Y., Petrov, Roman, Bullivant, Garrett, von Duecker, Laura, Jadhav, Swati, Ploeckinger, Ursula, Welin, Staffan, Schalin-Jantti, Camilla, Gimm, Oliver, Pfeifer, Marija, Ngeow, Joanne, Hasse-Lazar, Kornelia, Sanso, Gabriela, Qi, Xiaoping, Ugurlu, M. Umit, Diaz, Rene E., Wohllk, Nelson, Peczkowska, Mariola, Aberle, Jens, Lourenco Jr, Delmar M., Pereira, Maria A. A., Fragoso, Maria C. B., V, Hoff, Ana O., Almeida, Madson Q., Violante, Alice H. D., Ouidute, Ana R. P., Zhang, Zhewei, Recasens, Monica, Robles Diaz, Luis, Kunavisarut, Tada, Wannachalee, Taweesak, Sirinvaravong, Sirinart, Jonasch, Eric, Grozinsky-Glasberg, Simona, Fraenkel, Merav, Beltsevich, Dmitry, Egorov, Viacheslav, I, Bausch, Dirk, Schott, Matthias, Tiling, Nikolaus, Pennelli, Gianmaria, Zschiedrich, Stefan, Daerr, Roland, Ruf, Juri, Denecke, Timm, Link, Karl-Heinrich, Zovato, Stefania, von Dobschuetz, Ernst, Yaremchuk, Svetlana, Amthauer, Holger, Makay, Ozer, Patocs, Attila, Walz, Martin K., Huber, Tobias B., Seufert, Jochen, Hellman, Per, Ekaterina, Raymond H., Kuchinskaya, Ekaterina, Schiavi, Francesca, Malinoc, Angelica, Reisch, Nicole, Jarzab, Barbara, Barontini, Marta, Januszewicz, Andrzej, Shah, Nalini, Young, William F., Jr., Opocher, Giuseppe, Eng, Charis, Neumann, Hartmut P. H., and Bausch, Birke

Abstract

Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75). Fifty-five (20%) patients had metastatic PanNETs. Metastatic PanNETs were significantly larger (median size 5 vs 2 cm; P < 0.001) and tumor volume doubling time (TVDT) was faster (22 vs 126 months; P = 0.001). All metastatic tumors were >= 2.8 cm. Codons 161 and 167 were hotspots for VHL germline mutations with enhanced risk for metastatic PanNETs. Multivariate prediction modeling disclosed maximum tumor diameter and TVDT as significant predictors for metastatic disease (positive and negative predictive values of 51% and 100% for diameter cut-off >= 2.8 cm, 44% and 91% for TVDT cut-off of <= 24 months). In 117 of 273 patients, PanNETs > 1.5 cm in diameter were operated. Ten-year survival was significantly longer in operated vs non-operated patients, in particular for PanNETs < 2.8 cm vs >= 2.8 cm (94% vs 85% by 10 years; P = 0.020; 80% vs 50% at 10 years; P = 0.030). This study demonstrates that patients with PanNET approaching the cut-off diameter of 2.8 cm should be operated. Mutations in exon 3, especially of codons 161/167 are at enhanced risk for metastatic PanNETs. Survival is significantly longer in operated non-metastatic VHL-PanNETs.

Published
2018
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33. 65 YEARS OF THE DOUBLE HELIX Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Author

Neumann, Hartmut P., Young, William F. Jr., Krauss, Tobias, Bayley, Jean-Pierre, Schiavi, Francesca, Opocher, Giuseppe, Boedeker, Carsten C., Tirosh, Amit, Castinetti, Frederic, Ruf, Juri, Beltsevich, Dmitry, Walz, Martin, Groeben, Harald-Thomas, von Dobschuetz, Ernst, Gimm, Oliver, Wohllk, Nelson, Pfeifer, Marija, Lourenco, Delmar M. Jr., Peczkowska, Mariola, Patocs, Attila, Ngeow, Joanne, Makay, Ozer, Shah, Nalini S., Tischler, Arthur, Leijon, Helena, Pennelli, Gianmaria, Villar Gomez de las Heras, Karina, Links, Thera P., Bausch, Birke, Eng, Charis, Neumann, Hartmut P., Young, William F. Jr., Krauss, Tobias, Bayley, Jean-Pierre, Schiavi, Francesca, Opocher, Giuseppe, Boedeker, Carsten C., Tirosh, Amit, Castinetti, Frederic, Ruf, Juri, Beltsevich, Dmitry, Walz, Martin, Groeben, Harald-Thomas, von Dobschuetz, Ernst, Gimm, Oliver, Wohllk, Nelson, Pfeifer, Marija, Lourenco, Delmar M. Jr., Peczkowska, Mariola, Patocs, Attila, Ngeow, Joanne, Makay, Ozer, Shah, Nalini S., Tischler, Arthur, Leijon, Helena, Pennelli, Gianmaria, Villar Gomez de las Heras, Karina, Links, Thera P., Bausch, Birke, and Eng, Charis

Abstract

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with amp;gt;35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance and prevention. Clinically, we now treat an entire family of tumors of the paraganglia, with the exact phenotype varying by specific gene. In terms of detection and classification, simultaneous advances in biochemical detection and imaging localization have taken place, and the histopathology of the paraganglioma tumor family has been revised by immunohistochemical-genetic classification by gene-specific antibody immunohistochemistry. Treatment options have also been substantially enriched by the application of minimally invasive and adrenal-sparing surgery. Finally and most importantly, it is now widely recognized that patients with genetic pheochromocytoma/paraganglioma syndromes should be treated in specialized centers dedicated to the diagnosis, treatment and surveillance of this rare neoplasm.

Published
2018
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34. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author

Castinetti, Frederic Maia, Ana Luiza Peczkowska, Mariola and Barontini, Marta Hasse-Lazar, Kornelia Links, Thera P. and Toledo, Rodrigo A. Dvorakova, Sarka Mian, Caterina Bugalho, Maria Joao Zovato, Stefania Alevizaki, Maria Kvachenyuk, Andrei Bausch, Birke Loli, Paola Bergmann, Simona R. and Patocs, Attila Pfeifer, Marija Biarnes Costa, Josefina von Dobschuetz, Ernst Letizia, Claudio Valk, Gerlof Barczynski, Marcin Czetwertynska, Malgorzata Plukker, John T. M. and Sartorato, Paola Zelinka, Tomas Vlcek, Petr Yaremchuk, Svetlana Weryha, Georges Canu, Letizia Wohllk, Nelson and Sebag, Frederic Walz, Martin K. Eng, Charis Neumann, Hartmut P. H.

Published
2017

35. Prevention Medicine in Bilateral Phaeochromocytoma

Author

Tsoy, Uliana, primary, Amodru, Vincent, additional, Walz, Martin K., additional, Bancos, Irina, additional, Jeet, Ravinder Kaur, additional, Qi, Xiaoping, additional, Bandgar, Tushar, additional, Jaiswal, Sanjeet Kumar, additional, Petrov, Roman, additional, Roslyakova, Anna, additional, Yukina, Marina Y., additional, Horst-Schrivers, Anouk N. A. van der, additional, Berends, Annika M.A., additional, Hoff, Ana O., additional, Castroneves, Luciana Audi, additional, Ferrara, Alfonso Massimiliano, additional, Rizzati, Silvia, additional, Mian, Caterina, additional, Dvorakova, Sarka, additional, Hasse-Lazar, Kornelia, additional, Kvachenyuk, Andrey, additional, Peczkowska, Mariola, additional, Loli, Paola, additional, Erenler, Feyza, additional, Zschiedrich, Stefan, additional, Krauss, Tobias, additional, Almeida, Madson Q., additional, Fragoso, Maria C. B. V., additional, Pereira, Maria A. A., additional, Liu, Longfei, additional, Li, Minghao, additional, Zhu, Feizhou, additional, Recasens, Mònica, additional, Costa, Josefina Biarnes, additional, Wohllk, Nelson, additional, Corssmit, Eleonora, additional, Shafigullina, Zulfiya, additional, Callissendorff, Jan, additional, Juhlin, Carl Christofer, additional, Grozinsky-Glasberg, Simona, additional, Gross, David, additional, Kunavisarut, Tada, additional, Violante, Alice H. D., additional, Kocjan, Tomaz, additional, Ngeow, Joanne, additional, Yoel, Uri, additional, Fraenkel, Merav, additional, Simsir, Ilgin Yildirim, additional, Ugurlu, Umit, additional, Ziagaki, Athanasia, additional, Schalin-Jäntti, Camilla, additional, Díaz, Luis Robles, additional, Kudlai, Inna Stepanovna, additional, Gimm, Oliver, additional, Scherbaum, Christina Rebecca, additional, Barbon, Giovanni, additional, Taschin, Elisa, additional, Malinoc, Angelica, additional, Khudiakova, Natalia Valeryevna, additional, Ivanov, Nikita V., additional, Castinetti, Frederic, additional, Pfeifer, Marija, additional, Beltsevich, Dmitry, additional, Egorov, Viacheslav I., additional, Zovato, Stefania, additional, Ploeckinger, Ursula, additional, Makay, Özer, additional, Grineva, Elena, additional, Schiavi, Francesca, additional, Jarzab, Barbara, additional, Januszewicz, Andrzej, additional, Opocher, Giuseppe, additional, Shah, Nalini, additional, Seufert, Jochen, additional, Links, Thera P., additional, Larsson, Catharina, additional, Lechan, Ronald M., additional, Bausch, Birke, additional, Young, William F., additional, Eng, Charis, additional, and Neumann, Hartmut P. H., additional

Published
2018
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36. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author

Castinetti, Frederic, primary, Maia, Ana Luiza, additional, Peczkowska, Mariola, additional, Barontini, Marta, additional, Hasse-Lazar, Kornelia, additional, Links, Thera P, additional, Toledo, Rodrigo A, additional, Dvorakova, Sarka, additional, Mian, Caterina, additional, Bugalho, Maria Joao, additional, Zovato, Stefania, additional, Alevizaki, Maria, additional, Kvachenyuk, Andrei, additional, Bausch, Birke, additional, Loli, Paola, additional, Bergmann, Simona R, additional, Patocs, Attila, additional, Pfeifer, Marija, additional, Costa, Josefina Biarnes, additional, von Dobschuetz, Ernst, additional, Letizia, Claudio, additional, Valk, Gerlof, additional, Barczynski, Marcin, additional, Czetwertynska, Malgorzata, additional, Plukker, John T M, additional, Sartorato, Paola, additional, Zelinka, Tomas, additional, Vlcek, Petr, additional, Yaremchuk, Svetlana, additional, Weryha, Georges, additional, Canu, Letizia, additional, Wohllk, Nelson, additional, Sebag, Frederic, additional, Walz, Martin K, additional, Eng, Charis, additional, and Neumann, Hartmut P H, additional

Published
2017
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37. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author

Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, Neumann, Hartmut P H, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, and Neumann, Hartmut P H

Published
2017

38. The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Author

Cancer, MS Interne Geneeskunde, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, Neumann, Hartmut P H, Cancer, MS Interne Geneeskunde, Castinetti, Frederic, Maia, Ana Luiza, Peczkowska, Mariola, Barontini, Marta, Hasse-Lazar, Kornelia, Links, Thera P, Toledo, Rodrigo A, Dvorakova, Sarka, Mian, Caterina, Bugalho, Maria Joao, Zovato, Stefania, Alevizaki, Maria, Kvachenyuk, Andrei, Bausch, Birke, Loli, Paola, Bergmann, Simona R, Patocs, Attila, Pfeifer, Marija, Costa, Josefina Biarnes, von Dobschuetz, Ernst, Letizia, Claudio, Valk, Gerlof, Barczynski, Marcin, Czetwertynska, Malgorzata, Plukker, John Th M, Sartorato, Paola, Zelinka, Tomas, Vlcek, Petr, Yaremchuk, Svetlana, Weryha, Georges, Canu, Letizia, Wohllk, Nelson, Sebag, Frederic, Walz, Martin K, Eng, Charis, and Neumann, Hartmut P H

Published
2017

39. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

Author

Castinetti, Frederic Qi, Xiao-Ping Walz, Martin K. Maia, Ana Luiza Sanso, Gabriela Peczkowska, Mariola Hasse-Lazar, Kornelia Links, Thera P. Dvorakova, Sarka Toledo, Rodrigo A. and Mian, Caterina Bugalho, Maria Joao Wohllk, Nelson and Kollyukh, Oleg Canu, Letizia Loli, Paola Bergmann, Simona R. and Costa, Josefina Biarnes Makay, Ozer Patocs, Attila and Pfeifer, Marija Shah, Nalini S. Cuny, Thomas Brauckhoff, Michael Bausch, Birke von Dobschuetz, Ernst Letizia, Claudio and Barczynski, Marcin Alevizaki, Maria K. Czetwertynska, Malgorzata Ugurlu, M. Umit Valk, Gerlof Plukker, John T. M. and Sartorato, Paola Siqueira, Debora R. Barontini, Marta and Szperl, Malgorzata Jarzab, Barbara Verbeek, Hans H. G. and Zelinka, Tomas Vlcek, Petr Toledo, Sergio P. A. Coutinho, Flavia L. Mannelli, Massimo Recasens, Monica Demarquet, Lea and Petramala, Luigi Yaremchuk, Svetlana Zabolotnyi, Dmitry and Schiavi, Francesca Opocher, Giuseppe Racz, Karoly and Januszewicz, Andrzej Weryha, Georges Henry, Jean-Francois and Brue, Thierry Conte-Devolx, Bernard Eng, Charis Neumann, Hartmut P. H.

Subjects
endocrine system diseases
Abstract

Background The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of phaeochromocytoma associated with multiple endocrine neoplasia type 2. Methods This multinational observational retrospective population-based study compiled data on patients with multiple endocrine neoplasia type 2 from 30 academic medical centres across Europe, the Americas, and Asia. Patients were included if they were carriers of germline pathogenic mutations of the RET gene, or were first-degree relatives with histologically proven medullary thyroid cancer and phaeochromocytoma. We gathered clinical information about patients’ RET genotype, type of treatment for phaeochromocytoma (ie, unilateral or bilateral operations as adrenalectomy or adrenal-sparing surgery, and as open or endoscopic operations), and postoperative outcomes (adrenal function, malignancy, and death). The type of surgery was decided by each investigator and the timing of surgery was patient driven. The primary aim of our analysis was to compare disease-free survival after either adrenal-sparing surgery or adrenalectomy. Findings 1210 patients with multiple endocrine neoplasia type 2 were included in our database, 563 of whom had phaeochromocytoma. Treatment was adrenalectomy in 438 (79%) of 552 operated patients, and adrenal-sparing surgery in 114 (21%). Phaeochromocytoma recurrence occurred in four (3%) of 153 of the operated glands after adrenal-sparing surgery after 6-13 years, compared with 11 (2%) of 717 glands operated by adrenalectomy (p=0.57). Postoperative adrenal insufficiency or steroid dependency developed in 292 (86%) of 339 patients with bilateral phaeochromocytoma who underwent surgery. However, 47 (57%) of 82 patients with bilateral phaeochromocytoma who underwent adrenal-sparing surgery did not become steroid dependent. Interpretation The treatment of multiple endocrine neoplasia type 2-related phaeochromocytoma continues to rely on adrenalectomies with their associated Addisonian-like complications and consequent lifelong dependency on steroids. Adrenal-sparing surgery, a highly successful treatment option in experienced centres, should be the surgical approach of choice to reduce these complications.

Published
2014

40. Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

Author

Neumann, Hartmut P., Young Jr, William F., Krauss, Tobias, Bayley, Jean-Pierre, Schiavi, Francesca, Opocher, Giuseppe, Boedeker, Carsten C., Tirosh, Amit, Castinetti, Frederic, Ruf, Juri, Beltsevich, Dmitry, Walz, Martin, Groeben, Harald-Thomas, von Dobschuetz, Ernst, Gimm, Oliver, Wohllk, Nelson, Pfeifer, Marija, Lourenço Jr, Delmar M., Peczkowska, Mariola, and Patocs, Attila

Subjects
PHEOCHROMOCYTOMA, FAMILIAL diseases, INDIVIDUALIZED medicine, MOLECULAR genetics, DISEASE susceptibility
Abstract

Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance and prevention. Clinically, we now treat an entire family of tumors of the paraganglia, with the exact phenotype varying by specific gene. In terms of detection and classification, simultaneous advances in biochemical detection and imaging localization have taken place, and the histopathology of the paraganglioma tumor family has been revised by immunohistochemical-genetic classification by gene-specific antibody immunohistochemistry. Treatment options have also been substantially enriched by the application of minimally invasive and adrenal-sparing surgery. Finally and most importantly, it is now widely recognized that patients with genetic pheochromocytoma/paraganglioma syndromes should be treated in specialized centers dedicated to the diagnosis, treatment and surveillance of this rare neoplasm. [ABSTRACT FROM AUTHOR]

Published
2018
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41. A registry-based study of thyroid paraganglioma: histological and genetic characteristics

Author

von Dobschuetz, Ernst, primary, Leijon, Helena, additional, Schalin-Jäntti, Camilla, additional, Schiavi, Francesca, additional, Brauckhoff, Michael, additional, Peczkowska, Mariola, additional, Spiazzi, Giovanna, additional, Demattè, Serena, additional, Cecchini, Maria Enrica, additional, Sartorato, Paola, additional, Krajewska, Jolanta, additional, Hasse-Lazar, Kornelia, additional, Roszkowska-Purska, Katarzyna, additional, Taschin, Elisa, additional, Malinoc, Angelica, additional, Akslen, Lars A, additional, Arola, Johanna, additional, Lange, Dariusz, additional, Fassina, Ambrogio, additional, Pennelli, Gianmaria, additional, Barbareschi, Mattia, additional, Luettges, Jutta, additional, Prejbisz, Aleksander, additional, Januszewicz, Andrzej, additional, Strate, Tim, additional, Bausch, Birke, additional, Castinetti, Frederic, additional, Jarzab, Barbara, additional, Opocher, Giuseppe, additional, Eng, Charis, additional, and Neumann, Hartmut P H, additional

Published
2015
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42. DISCREPANCIES IN THE OUTCOME OF PLASMA ALDOSTERONE LEVELS ASSESSED BY IMMUNOASSAY AND MASS SPECTROMETRY - CLINICAL RELEVANCE FOR THE DIAGNOSIS OF PRIMARY HYPERALDOSTERONISM.

Author

Bacmaga, Gilbert, Dabrowska, Natalia, Was, Joanna, Sokolowska, Dorota, Kolodziejczyk-Kruk, Sylwia, Matsko, Pavlo, Talarowska, Paulina, Pregowska-Chwala, Barbara, Peczkowska, Mariola, Kabat, Marek, Cendrowska-Demkow, Iwona, Lutynska, Anna, Januszewicz, Andrzej, Dobrowolski, Piotr, and Prejbisz, Aleksander

Published
2023
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43. Long-term prognosis of patients with pediatric pheochromocytoma

Author

Bausch, Birke, primary, Wellner, Ulrich, additional, Bausch, Dirk, additional, Schiavi, Francesca, additional, Barontini, Marta, additional, Sanso, Gabriela, additional, Walz, Martin K, additional, Peczkowska, Mariola, additional, Weryha, Georges, additional, Dall'Igna, Patrizia, additional, Cecchetto, Giovanni, additional, Bisogno, Gianni, additional, Moeller, Lars C, additional, Bockenhauer, Detlef, additional, Patocs, Attila, additional, Rácz, Karoly, additional, Zabolotnyi, Dmitry, additional, Yaremchuk, Svetlana, additional, Dzivite-Krisane, Iveta, additional, Castinetti, Frederic, additional, Taieb, David, additional, Malinoc, Angelica, additional, von Dobschuetz, Ernst, additional, Roessler, Jochen, additional, Schmid, Kurt W, additional, Opocher, Giuseppe, additional, Eng, Charis, additional, and Neumann, Hartmut P H, additional

Published
2013
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44. Biochemical diagnosis of phaeochromocytoma using plasma‐free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions

Author

Därr, Roland, primary, Pamporaki, Christina, additional, Peitzsch, Mirko, additional, Miehle, Konstanze, additional, Prejbisz, Aleksander, additional, Peczkowska, Mariola, additional, Weismann, Dirk, additional, Beuschlein, Felix, additional, Sinnott, Richard, additional, Bornstein, Stefan R., additional, Neumann, Hartmut P., additional, Januszewicz, Andrzej, additional, Lenders, Jacques, additional, and Eisenhofer, Graeme, additional

Published
2013
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45. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

Author

Erlic, Zoran, primary, Ploeckinger, Ursula, additional, Cascon, Alberto, additional, Hoffmann, Michael M, additional, von Duecker, Laura, additional, Winter, Aurelia, additional, Kammel, Gerit, additional, Bacher, Janina, additional, Sullivan, Maren, additional, Isermann, Berend, additional, Fischer, Lars, additional, Raffel, Andreas, additional, Knoefel, Wolfram Trudo, additional, Schott, Matthias, additional, Baumann, Tobias, additional, Schaefer, Oliver, additional, Keck, Tobias, additional, Baum, Richard P, additional, Milos, Ioana, additional, Muresan, Mihaela, additional, Peczkowska, Mariola, additional, Januszewicz, Andrzej, additional, Cupisti, Kenko, additional, Tönjes, Anke, additional, Fasshauer, Mathias, additional, Langrehr, Jan, additional, von Wussow, Peter, additional, Agaimy, Abbas, additional, Schlimok, Günter, additional, Lamberts, Regina, additional, Wiech, Thorsten, additional, Schmid, Kurt Werner, additional, Weber, Alexander, additional, Nunez, Mercedes, additional, Robledo, Mercedes, additional, Eng, Charis, additional, Neumann, Hartmut P H, additional, and _, _, additional

Published
2010
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46. Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Author

Neumann, Hartmut P.H., primary, Erlic, Zoran, additional, Boedeker, Carsten C., additional, Rybicki, Lisa A., additional, Robledo, Mercedes, additional, Hermsen, Mario, additional, Schiavi, Francesca, additional, Falcioni, Maurizio, additional, Kwok, Pingling, additional, Bauters, Catherine, additional, Lampe, Karen, additional, Fischer, Markus, additional, Edelman, Emily, additional, Benn, Diana E., additional, Robinson, Bruce G., additional, Wiegand, Stefanie, additional, Rasp, Gerd, additional, Stuck, Boris A., additional, Hoffmann, Michael M., additional, Sullivan, Maren, additional, Sevilla, Maria A., additional, Weiss, Marjan M., additional, Peczkowska, Mariola, additional, Kubaszek, Agata, additional, Pigny, Pascal, additional, Ward, Robyn L., additional, Learoyd, Diana, additional, Croxson, Michael, additional, Zabolotny, Dmitry, additional, Yaremchuk, Svetlana, additional, Draf, Wolfgang, additional, Muresan, Mihaela, additional, Lorenz, Robert R., additional, Knipping, Stephan, additional, Strohm, Michael, additional, Dyckhoff, Gerhard, additional, Matthias, Christoph, additional, Reisch, Nicole, additional, Preuss, Simon F., additional, Eβer, Dirk, additional, Walter, Martin A., additional, Kaftan, Holger, additional, Stöver, Timo, additional, Fottner, Christian, additional, Gorgulla, Harald, additional, Malekpour, Mahdi, additional, Zarandy, Masoud Motasaddi, additional, Schipper, Jörg, additional, Brase, Christoph, additional, Glien, Alexander, additional, Kühnemund, Matthias, additional, Koscielny, Sven, additional, Schwerdtfeger, Peter, additional, Välimäki, Matti, additional, Szyfter, Witold, additional, Finckh, Ulrich, additional, Zerres, Klaus, additional, Cascon, Alberto, additional, Opocher, Giuseppe, additional, Ridder, Gerd J., additional, Januszewicz, Andrzej, additional, Suarez, Carlos, additional, and Eng, Charis, additional

Published
2009
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47. GermlineNF1Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Author

Bausch, Birke, primary, Borozdin, Wiktor, additional, Mautner, Victor F., additional, Hoffmann, Michael M., additional, Boehm, Detlef, additional, Robledo, Mercedes, additional, Cascon, Alberto, additional, Harenberg, Tomas, additional, Schiavi, Francesca, additional, Pawlu, Christian, additional, Peczkowska, Mariola, additional, Letizia, Claudio, additional, Calvieri, Stefano, additional, Arnaldi, Giorgio, additional, Klingenberg-Noftz, Rolf D., additional, Reisch, Nicole, additional, Fassina, Ambrogio, additional, Brunaud, Laurent, additional, Walter, Martin A., additional, Mannelli, Massimo, additional, MacGregor, Graham, additional, Palazzo, F. Fausto, additional, Barontini, Marta, additional, Walz, Martin K., additional, Kremens, Bernhard, additional, Brabant, Georg, additional, Pfäffle, Roland, additional, Koschker, Ann-Cathrin, additional, Lohoefner, Felix, additional, Mohaupt, Markus, additional, Gimm, Oliver, additional, Jarzab, Barbara, additional, McWhinney, Sarah R., additional, Opocher, Giuseppe, additional, Januszewicz, Andrzej, additional, Kohlhase, Jürgen, additional, Eng, Charis, additional, and Neumann, Hartmut P. H., additional

Published
2007
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50. Pheochromocytoma of the Urinary Bladder Coexisting with Another Extra-adrenal Tumour - Case Report of a 19-year-old Male Patient

Author

Peczkowska, Mariola, primary, Gessek, Jacek, additional, Januszewicz, Andrzej, additional, Neumann, Hartmut P. H., additional, Januszewicz, Magdalena, additional, Janaszek-Sitkowska, Hanna, additional, Prejbisz, Aleksander, additional, Kabat, Marek, additional, Skierski, Janusz, additional, Ciesla, Witold, additional, and Szostek, Mieczysaw, additional

Published
2002
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