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144 results on '"Hasse-Lazar, Kornelia"'

3. 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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4. 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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5. Polish diagnostic and therapeutic recommendations for adrenocortical carcinoma.

Author

Handkiewicz-Junak, Daria, Dedecjus, Marek, Ambroziak, Urszula, Barczyński, Marcin, Bednarek-Papierska, Lucyna, Chmielik, Ewa, Cichocki, Andrzej, Czarniecka, Agnieszka, Ćwikła, Jarosław, Hasse-Lazar, Kornelia, Hubalewska-Dydejczyk, Alicja, Januszkiewicz-Caulier, Joanna, Jarząb, Barbara, Kamiński, Grzegorz, Karbownik-Lewińska, Małgorzata, Kolasińska-Ćwikła, Agnieszka, Koperski, Łukasz, Kos-Kudła, Beata, Kotecka-Blicharz, Agnieszka, and Kowalska, Aldona

Published
2024
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6. 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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7. 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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8. Rak tarczycy. Aktualne poglądy na leczenie choroby

Author

Jarząb, Barbara, primary, Chmielnik, Ewa, additional, Czarniecka, Agnieszka, additional, Dedecjusz, Marek, additional, Handkiewicz-Junak, Daria, additional, Hasse-Lazar, Kornelia, additional, Kalemba, Michał, additional, Kołton, Magdalena, additional, Kotecka-Blicharz, Agnieszka, additional, Krajewska, Jolanta, additional, Kula, Dorota, additional, Ledwon, Aleksandra, additional, Oczko-Wojciechowska, Małgorzata, additional, Samborski, Konrad, additional, and Wyciślik, Magdalena, additional

Published
2022
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9. In Patients With Well-Differentiated Neuroendocrine Tumours, There Is No Apparent Benefit of Somatostatin Analogues After Disease Control By Peptide Receptor Radionuclide Therapy

Author

Syguła, Aleksandra, primary, Ledwon, Aleksandra, additional, Hasse-Lazar, Kornelia, additional, Jurecka-Lubieniecka, Beata, additional, Michalik, Barbara, additional, Paliczka-Cieślik, Ewa, additional, Zeman, Marcin, additional, Chmielik, Ewa, additional, Sczasny, Monika, additional, Jarzab, Barbara, additional, and Handkiewicz-Junak, Daria, additional

Published
2021
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10. Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C&gt

Author

Gilis-Januszewska, Aleksandra, Bogusławska, Anna, Hasse-Lazar, Kornelia, Jurecka-Lubieniecka, Beata, Jarząb, Barbara, Sowa-Staszczak, Anna, Opalińska, Marta, Godlewska, Magdalena, Grochowska, Anna, Skalniak, Anna, and Hubalewska-Dydejczyk, Alicja

Subjects
hyperparathyroidism, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, endocrine system diseases, pituitary tumor, pancreatic neuroendocrine tumor, cascade genetic screening, multiple endocrine neoplasia type 1
Abstract

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C&gt, T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C&gt, T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C&gt, T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

Published
2021
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11. Heterogeneity of the clinical presentation of the MEN1 LRG_509t1 c.781C > T (p.Leu261Phe) variant within a three-generation family

Author

Gilis-Januszewska, Aleksandra, primary, Anna, Boguslawska, additional, Godlewska, Magdalena, additional, Hasse-Lazar, Kornelia, additional, Jurecka-Lubieniecka, Beata, additional, Jarzab, Barbara, additional, Sowa-Staszczak, Anna, additional, Skalniak, Anna, additional, and Hubalewska-Dydejczyk, Alicja, additional

Published
2021
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13. 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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14. Laparoscopic cortical-sparing adrenal surgery in pheochromocytomas associated with hereditary neoplasia syndromes

Author

Hasse-Lazar, Kornelia, primary, Zeman, Marcin, additional, Kotecka-Blicharz, Agnieszka, additional, Legutko, Marta, additional, Czarniecka, Agnieszka, additional, Michalik, Barbara, additional, Król, Aleksandra, additional, Szymański, Piotr, additional, Pawlaczek, Agnieszka, additional, Oczko-Wojciechowska, Małgorzata, additional, Grajek, Maciej, additional, Gawlik, Tomasz, additional, Handkiewicz-Junak, Daria, additional, and Jarząb, Barbara, additional

Published
2020
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15. 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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17. 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

18. RET Y791F carriers' medical history - experience from one center

Author

Hasse-Lazar, Kornelia, primary, Kotecka-Blicharz, Agnieszka, additional, Oczko-Wojciechowska, Małgorzata, additional, Pawlaczek, Agnieszka, additional, Michalik, Barbara, additional, Gawlik, Tomasz, additional, Jurecka-Lubieniecka, Beata, additional, Krajewska, Jolanta, additional, Krol, Aleksandra, additional, Legutko, Marta, additional, Czarniecka, Agnieszka, additional, Zeman, Marcin, additional, and Jarzęb, Barbara, additional

Published
2019
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19. 13-cis-retinoic acid re-differentiation therapy and recombinant human thyrotropin-aided radioiodine treatment of non-Functional metastatic thyroid cancer: a single-center, 53-patient phase 2 study

Author

Handkiewicz-Junak Daria, Roskosz Jozef, Hasse-Lazar Kornelia, Szpak-Ulczok Sylwia, Puch Zbigniew, Kukulska Aleksandra, Olczyk Tomasz, Piela Andrzej, Paliczka-Cieslik Ewa, and Jarzab Barbara

Subjects
Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Abstract In 30–50% of patients with metastatic non-medullary thyroid cancer the metastases are not radioiodine-avid and so there is no effective treatment. Retinoids have demonstrated inhibition of thyroid tumor growth and induction of radioiodine uptake. The aim of our study was to assess benefits of the retinoic acid (RA) treatment to re-differentiate non-functional NMTC metastases. Patients and Methods In this prospective study, 53 patients with radioiodine non avid metastatic disease (45) or hyperthyroglobulinemia (8) were treated with 13-cis-retinoic acid (13-CRA) [1.0 mg/kg/day over 1st week and then 1.5 mg/kg] for six weeks prior to I-131 treatment performed under rhTSH stimulation. The re-differentiating effect of RA was evaluated by serum thyroglobulin (Tg) monitoring before and after cessation of RA treatment and by qualitative analysis of iodine uptake on the post-therapeutic whole body scan (rxWBS). Results 13-CRA induced radioiodine uptake in 9 (17%) of patients. In the univariate analysis neither the patient's gender, age, tumor histopathology, uptake in thyroid bed nor time since thyroid cancer diagnosis was associated with results of rxWBS. 41 (77%) patients were evaluable for Tg response before and after to 13-CRA treatment. There was a statistically significant increase in median Tg level (60 v. 90 ng/ml, p < 0.05). There was no difference in Tg increase between scintigraphic responders and non-responders. 13-CRA and RIT was repeated at least once in 8 of 9 scintigraphic responders. None of them showed tumor regression by radiological imaging within 12 months after the first treatment, 4/9 (44%) of them had disease progression. 13-CRA treatment was well-tolerated. All but one patient complained of at least one side effect the most prevalent being lip dryness (98%). All side effects were transient and resolved within 2 weeks after 13-CRA cessation. Conclusion Our results show that in patients with non-functional metastases from NMTC, 13-CRA is able to exert some re-differentiation effect by induction of radioiodine uptake in

Published
2009
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20. 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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21. 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

22. 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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23. Terapia radioizotopowa 131-MIBG złośliwych guzów chromochłonnych i przyzwojaków — badanie jednoośrodkowe

Author

Kotecka-Blicharz, Agnieszka, primary, Hasse-Lazar, Kornelia, additional, Handkiewicz-Junak, Daria, additional, Gawlik, Tomasz, additional, Pawlaczek, Agnieszka, additional, Oczko-Wojciechowska, Małgorzata, additional, Michalik, Barbara, additional, Szpak-Ulczok, Sylwia, additional, Krajewska, Jolanta, additional, Jurecka-Lubieniecka, Beata, additional, and Jarząb, Barbara, additional

Published
2018
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24. 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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25. 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

26. Rekomendacje Polskich Towarzystw Naukowych „Diagnostyka i leczenie raka tarczycy”. Aktualizacja na rok 2018

Author

Jarząb, Barbara, primary, Dedecjus, Marek, additional, Słowińska-Klencka, Dorota, additional, Lewiński, Andrzej, additional, Adamczewski, Zbigniew, additional, Anielski, Ryszard, additional, Bagłaj, Maciej, additional, Bałdys-Waligórska, Agata, additional, Barczyński, Marcin, additional, Bednarczuk, Tomasz, additional, Bossowski, Artur, additional, Buziak-Bereza, Monika, additional, Chmielik, Ewa, additional, Cichocki, Andrzej, additional, Czarniecka, Agnieszka, additional, Czepczyński, Rafał, additional, Dzięcioł, Janusz, additional, Gawlik, Tomasz, additional, Handkiewicz-Junak, Daria, additional, Hasse-Lazar, Kornelia, additional, Hubalewska-Dydejczyk, Alicja, additional, Jażdżewski, Krystian, additional, Jurecka-Lubieniecka, Beata, additional, Kalemba, Michał, additional, Kamiński, Grzegorz, additional, Karbownik-Lewińska, Małgorzata, additional, Klencki, Mariusz, additional, Kos-Kudła, Beata, additional, Kotecka-Blicharz, Agnieszka, additional, Kowalska, Aldona, additional, Krajewska, Jolanta, additional, Kropińska, Aleksandra, additional, Kukulska, Aleksandra, additional, Kulik, Emilia, additional, Kułakowski, Andrzej, additional, Kuzdak, Krzysztof, additional, Lange, Dariusz, additional, Ledwon, Aleksandra, additional, Lewandowska-Jabłońska, Elżbieta, additional, Łącka, Katarzyna, additional, Michalik, Barbara, additional, Nasierowska-Guttmejer, Anna, additional, Nauman, Janusz, additional, Niedziela, Marek, additional, Małecka-Tendera, Ewa, additional, Oczko-Wojciechowska, Małgorzata, additional, Olczyk, Tomasz, additional, Paliczka-Cieślik, Ewa, additional, Pomorski, Lech, additional, Puch, Zbigniew, additional, Roskosz, Józef, additional, Ruchała, Marek, additional, Rusinek, Dagmara, additional, Sporny, Stanisław, additional, Stanek-Widera, Agata, additional, Stojcev, Zoran, additional, Syguła, Aleksandra, additional, Syrenicz, Anhelli, additional, Szpak-Ulczok, Sylwia, additional, Tomkalski, Tomasz, additional, Wygoda, Zbigniew, additional, Włoch, Jan, additional, and Zembala-Nożyńska, Ewa, additional

Published
2018
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27. 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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28. 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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29. 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

30. 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

33. 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

35. Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Author

Kotecka-Blicharz, Agnieszka, primary, Hasse-Lazar, Kornelia, additional, Jurecka-Lubieniecka, Beata, additional, Oczko-Wojciechowska, Małgorzata, additional, Pawlaczek, Agnieszka, additional, Bugajska, Beata, additional, Ledwon, Aleksandra, additional, Król, Aleksandra, additional, Michalik, Barbara, additional, and Jarząb, Barbara, additional

Published
2016
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36. The genetic screening of RET proto-oncogene in Polish population during the past two decades

Author

Oczko-Wojciechowska, Małgorzata, primary, Sromek, Maria, additional, Pawlaczek, Agnieszka, additional, Czetwertyńska, Małgorzata, additional, Kula, Dorota, additional, Żebracka-Gala, Jadwiga, additional, Rusinek, Dagmara, additional, Kowal, Monika, additional, Gubała, Elżbieta, additional, Szpak-Ulczok, Sylwia, additional, Gawlik, Tomasz, additional, Zub, Renata, additional, Tyszkiewicz, Tomasz, additional, Cyplińska, Renata, additional, Hasse-Lazar, Kornelia, additional, Wygoda, Zbigniew, additional, Krajewska, Jolanta, additional, Wiench, Małgorzata, additional, Dedecjus, Marek, additional, and Jarzęb, Barbara, additional

Published
2016
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37. Guidelines of Polish National Societies Diagnostics and Treatment of Thyroid Carcinoma 2018 Update.

Author

Jarząb, Barbara, Dedecjus, Marek, Słowińska-Klencka, Dorota, Lewiński, Andrzej, Adamczewski, Zbigniew, Anielski, Ryszard, Bagłaj, Maciej, Bałdys-Waligórska, Agata, Barczyński, Marcin, Bednarczuk, Tomasz, Bossowski, Artur, Buziak-Bereza, Monika, Chmielik, Ewa, Cichocki, Andrzej, Czarniecka, Agnieszka, Czepczyński, Rafał, Dzięcioł, Janusz, Gawlik, Tomasz, Handkiewicz-Junak, Daria, and Hasse-Lazar, Kornelia

Published
2018
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38. 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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39. Association between Polymorphisms in the TSHR Gene and Graves' Orbitopathy

Author

Jurecka-Lubieniecka, Beata, primary, Ploski, Rafal, additional, Kula, Dorota, additional, Szymanski, Konrad, additional, Bednarczuk, Tomasz, additional, Ambroziak, Urszula, additional, Hasse-Lazar, Kornelia, additional, Hyla-Klekot, Lidia, additional, Tukiendorf, Andrzej, additional, Kolosza, Zofia, additional, and Jarzab, Barbara, additional

Published
2014
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45. Terapia nadczynności tarczycy jodem promieniotwórczym jest bezpieczna u chorych na chorobę Gravesa i Basedowa z orbitopatią — badanie prospektywne

Author

Król, Aleksandra, primary, Koehler, Aleksandra, additional, Nowak, Mariusz, additional, Paliczka-Cieślik, Ewa, additional, Krajewska, Jolanta, additional, Kalemba, Michał, additional, Jurecka-Lubieniecka, Beata, additional, Hasse-Lazar, Kornelia, additional, Michalik, Barbara, additional, Szpak-Ulczok, Sylwia, additional, Zarudzki, Łukasz, additional, Roskosz, Józef, additional, and Jarząb, Barbara, additional

Published
2014
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46. Comparison of clinical examination with orbital MRI evaluation in patients with thyroid orbitopathy - do we need imaging and when?

Author

Król, Aleksandra, primary, Krajewska, Jolanta, additional, Michalik, Barbara, additional, Paliczka-Cieślik, Ewa, additional, Kalemba, Michał, additional, Jurecka-Lubieniecka, Beata, additional, Hasse-Lazar, Kornelia, additional, Szpak-Ulczok, Sylwia, additional, Zarudzki, Łukasz, additional, and Jarząb, Barbara, additional

Published
2013
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49. Jun Gene Expression is Decreased in Parathyroid Adenoma

Author

Żebracka-Gala, Jadwiga, primary, Waler, Janusz, additional, Gawrychowski, Jacek, additional, Hasse-Lazar, Kornelia, additional, Kowalska, Małgorzata, additional, Niemiec, Andrzej, additional, Szpak-Ulczok, Sylwia, additional, Jurecka-Lubieniecka, Beata, additional, Buła, Grzegorz, additional, Truchanowski, Witold, additional, Gubała, Elżbieta, additional, and Jarząb, Barbara, additional

Published
2009
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