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2. Multi‐centre analytical performance verification of an IVD assay to quantify donor‐derived cell‐free DNA in solid organ transplant recipients

Author

Casas, Sílvia, primary, Tangprasertchai, Narin S., additional, Oikonomaki, Katerina, additional, Mathers, Simon, additional, Sollet, Zuleika Calderin, additional, Samara, Stavroula, additional, Liu, June, additional, Burlinson, Natalia Diaz, additional, Constantoulakis, Pantelis, additional, Villard, Jean, additional, and Viard, Thierry, additional

Published
2024
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8. Chapter 8 - Rivers from the Western Amazon

Author

Piland, Natalia C., Beveridge, Claire F., Campos-Silva, João V., Cañas, Carlos, Correa, Sandra B., Couto, Thiago B.A., Encalada, Andrea C., Escobar-Camacho, Daniel, López-Casas, Silvia, Webb, Benjamin, and Anderson, Elizabeth P.

Published
2025
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12. Occupation and mammographic density: A population-based study (DDM-Occup)

Author

García-Pérez, Javier, Pollán, Marina, Pérez-Gómez, Beatriz, González-Sánchez, Mario, Cortés Barragán, Rosa Ana, Maqueda Blasco, Jerónimo, González-Galarzo, María Carmen, Alba, Miguel Ángel, van der Haar, Rudolf, Casas, Silvia, Vicente, Cándida, Medina, Pilar, Ederra, María, Santamariña, Carmen, Moreno, María Pilar, Casanova, Francisco, Pedraz-Pingarrón, Carmen, Moreo, Pilar, Ascunce, Nieves, García, Montse, Salas-Trejo, Dolores, Sánchez-Contador, Carmen, Llobet, Rafael, and Lope, Virginia

Published
2017
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16. Contributors

Author

Giorgi, Adonis, Capítulo, Alberto Rodrigues, Andriolo, Aline, Lopes, Aline, Barbieri, Alisson F., Mortati, Amanda, Netto-Ferreira, André L., Sawakuchi, André O., Encalada, Andrea C., Webb, Benjamin, Terra, Bianca de Freitas, Ríos-Touma, Blanca, Diaz, Boris G., Ribas, Camila, Alves, Carlos B.M., Cañas, Carlos, DoNascimiento, Carlos, Rezende, Carlos E., Freitas, Carlos, Gracía-Dávila, Carmen, da Costa Dória, Carolina Rodrigues, Villamarín, Christian, Lucas, Christine, Beveridge, Claire F., Bonecker, Cláudia C., Marrero, Críspulo J., Dorador, Cristina, Escobar-Camacho, Daniel, Rosero-López, Daniela, das Chagas, Davi B., Pujoni, Diego G.F., Macedo, Diego R., P. Lima-Junior, Dilermando, Rodríguez-Olarte, Douglas, Latrubesse, Edgardo M., González-Afanador, Edith, Domínguez, Eduardo, Anderson, Elizabeth P., Medeiros, Elvio Sergio Figueredo, Pelicice, Fernando M., Carvalho, Fernando R., Wittmann, Florian, Barbosa, Francisco A.R., Meza, Francisco, de Andrade Neto, Francisco Ricardo, Teixeira de Mello, Franco, Guillot-Monroy, Gabriel Hernando, Torrente-Vilara, Gislene, Hallwass, Gustavo, Pereira, Hasley R., Sosa, Heber, Ortega, Hernán, Ramírez-Gil, Hernando, Inda, Hugo, Fernández, Hugo R., Vila, Irma, Leli, Isabel T., González-Bergonzoni, Iván, Cantera-Kintz, Jaime, Mol, Jan H.A., Zuanon, Jansen, Penha, Jerry Magno F., Vásquez-Ramos, Jesús Manuel, Donato-Rondón, Jhon, Campos-Silva, João V., Schöngart, Jochen, Muñoz, Jorge León, Molina-Carpio, Jorge, Nimptsch, Jorge, Rincón, Jose E., Barbosa, José Etham de Lucena, Mojica, José Iván, Oliveira-Junior, José Max B., Blanco-Libreros, Juan F., Aigo, Juana, Rosales, Judith, Severiano, Juliana dos Santos, Solórzano, Julio C.J., Wantzen, Karl M., Górski, Konrad, da Luz, Lafayette D., Sousa, Leandro M., Capítulo, Leandro Rodrigues, Mateus, Lucia A.F., Montag, Luciano F.A., Fernández, Luis A., Lucifora, Luis O., Miserendino, M. Laura, Longo, Magnolia, Graça, Manuel A.S., Callisto, Marcos, Sabando, María C., Haydar, María Fátima Mereles, de Aguiar Cavalcante, Maria Madalena, Piedade, Maria Teresa Fernandez, Ríos, Mariana, Caria, Mario A., Cogliati, Marisa, Marchese, Mercedes R., Pascual, Miguel A., Piland, Natalia C., Pessacg, Natalia L., Filizola, Naziano, Canale, Nerina, Gabellone, Néstor A., Colin, Nicole, Gómez, Nora, Macchi, Pablo A., Scarabotti, Pablo A., Fierro, Pablo, Rojas, Pablo, Moreira-Turcq, Patricia, Peralta, Patricia, van Damme, Paul Andre, Pompeu, Paulo S., Jiménez-Prado, Pedro, Tiberi, Pedro, Fearnside, Philip, Willink, Philip W., Parolin, Pia, Girard, Pierre, Carvalho, Priscilla, Covain, Raphael, Silvano, Renato A.M., Gómez, Ricardo, Pardo, Rodrigo, Marinho, Rogério, Menezes, Rosemberg F., Segnini-Flores, Samuel E., Correa, Sandra B., López-Rodríguez, Sara R., López-Casas, Silvia, Costa, Silvia Yasmin Lustosa, André, Thiago, Couto, Thiago B.A., Freitas, Tiago M.S., Junk, Wolfgang J., Labaut, Yeny, Carvajal-Escobar, Yesid, and Súarez, Yzel Rondon

Published
2025
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31. International Society for Therapeutic Ultrasound Conference 2016: Tel Aviv, Israel. 14-18 March, 2016

Author

Fowlkes, Brian, Ghanouni, Pejman, Sanghvi, Narendra, Coussios, Constantin, Lyon, Paul C., Gray, Michael, Mannaris, Christophoros, Victor, Marie de Saint, Stride, Eleanor, Cleveland, Robin, Carlisle, Robert, Wu, Feng, Middleton, Mark, Gleeson, Fergus, Aubry, Jean-Franҫois, Pauly, Kim Butts, Moonen, Chrit, Vortman, Jacob, Sharabi, Shirley, Daniels, Dianne, Last, David, Guez, David, Levy, Yoav, Volovick, Alexander, Grinfeld, Javier, Rachmilevich, Itay, Amar, Talia, Zibly, Zion, Mardor, Yael, Harnof, Sagi, Plaksin, Michael, Weissler, Yoni, Shoham, Shy, Kimmel, Eitan, Naor, Omer, Farah, Nairouz, Paeng, Dong-Guk, Xu, Zhiyuan, Snell, John, Quigg, Anders H., Eames, Matthew, Jin, Changzhu, Everstine, Ashli C., Sheehan, Jason P., Lopes, Beatriz S., Kassell, Neal, Looi, Thomas, Khokhlova, Vera, Mougenot, Charles, Hynynen, Kullervo, Drake, James, Slayton, Michael, Amodei, Richard C., Compton, Keegan, McNelly, Ashley, Latt, Daniel, Kearney, John, Melodelima, David, Dupre, Aurelien, Chen, Yao, Perol, David, Vincenot, Jeremy, Chapelon, Jean-Yves, Rivoire, Michel, Guo, Wei, Ren, Guoxin, Shen, Guofeng, Neidrauer, Michael, Zubkov, Leonid, Weingarten, Michael S., Margolis, David J., Lewin, Peter A., McDannold, Nathan, Sutton, Jonathan, Vykhodtseva, Natalia, Livingstone, Margaret, Kobus, Thiele, Zhang, Yong-Zhi, Schwartz, Michael, Huang, Yuexi, Lipsman, Nir, Jain, Jennifer, Chapman, Martin, Sankar, Tejas, Lozano, Andres, Yeung, Robert, Damianou, Christakis, Papadopoulos, Nikolaos, Brokman, Omer, Zadicario, Eyal, Brenner, Ori, Castel, David, Wu, Shih-Ying, Grondin, Julien, Zheng, Wenlan, Heidmann, Marc, Karakatsani, Maria Eleni, Sánchez, Carlos J. Sierra, Ferrera, Vincent, Konofagou, Elisa E., Yiannakou, Marinos, Cho, HongSeok, Lee, Hwayoun, Han, Mun, Choi, Jong-Ryul, Lee, Taekwan, Ahn, Sanghyun, Chang, Yongmin, Park, Juyoung, Ellens, Nicholas, Partanen, Ari, Farahani, Keyvan, Airan, Raag, Carpentier, Alexandre, Canney, Michael, Vignot, Alexandre, Lafon, Cyril, Delattre, Jean-yves, Idbaih, Ahmed, Odéen, Henrik, Bolster, Bradley, Jeong, Eun Kee, Parker, Dennis L., Gaur, Pooja, Feng, Xue, Fielden, Samuel, Meyer, Craig, Werner, Beat, Grissom, William, Marx, Michael, Weber, Hans, Taviani, Valentina, Hargreaves, Brian, Tanaka, Jun, Kikuchi, Kentaro, Ishijima, Ayumu, Azuma, Takashi, Minamihata, Kosuke, Yamaguchi, Satoshi, Nagamune, Teruyuki, Sakuma, Ichiro, Takagi, Shu, Santin, Mathieu D., Marsac, Laurent, Maimbourg, Guillaume, Monfort, Morgane, Larrat, Benoit, François, Chantal, Lehéricy, Stéphane, Tanter, Mickael, Samiotaki, Gesthimani, Wang, Shutao, Acosta, Camilo, Feinberg, Eliza R., Kovacs, Zsofia I., Tu, Tsang-Wei, Papadakis, Georgios Z., Reid, William C., Hammoud, Dima A., Frank, Joseph A., Kovacs, Zsofia i., Kim, Saejeong, Jikaria, Neekita, Bresler, Michele, Qureshi, Farhan, Xia, Jingjing, Tsui, Po-Shiang, Liu, Hao-Li, Plata, Juan C., Sveinsson, Bragi, Salgaonkar, Vasant A., Adams, Matthew, Diederich, Chris, Ozhinsky, Eugene, Bucknor, Matthew D., Rieke, Viola, Mikhail, Andrew, Severance, Lauren, Negussie, Ayele H., Wood, Bradford, de Greef, Martijn, Schubert, Gerald, Ries, Mario, Poorman, Megan E., Dockery, Mary, Chaplin, Vandiver, Dudzinski, Stephanie O., Spears, Ryan, Caskey, Charles, Giorgio, Todd, Costa, Marcia M., Papaevangelou, Efthymia, Shah, Anant, Rivens, Ian, Box, Carol, Bamber, Jeff, ter Haar, Gail, Burks, Scott R., Nagle, Matthew, Nguyen, Ben, Milo, Blerta, Le, Nhan M., Song, Shaozhen, Zhou, Kanheng, Nabi, Ghulam, Huang, Zhihong, Ben-Ezra, Shmuel, Rosen, Shani, Mihcin, Senay, Strehlow, Jan, Karakitsios, Ioannis, Le, Nhan, Schwenke, Michael, Demedts, Daniel, Prentice, Paul, Haase, Sabrina, Preusser, Tobias, Melzer, Andreas, Mestas, Jean-Louis, Chettab, Kamel, Gomez, Gustavo Stadthagen, Dumontet, Charles, Werle, Bettina, Marquet, Fabrice, Bour, Pierre, Vaillant, Fanny, Amraoui, Sana, Dubois, Rémi, Ritter, Philippe, Haïssaguerre, Michel, Hocini, Mélèze, Bernus, Olivier, Quesson, Bruno, Livneh, Amit, Adam, Dan, Robin, Justine, Arnal, Bastien, Fink, Mathias, Pernot, Mathieu, Khokhlova, Tatiana D., Schade, George R., Wang, Yak-Nam, Kreider, Wayne, Simon, Julianna, Starr, Frank, Karzova, Maria, Maxwell, Adam, Bailey, Michael R., Lundt, Jonathan E., Allen, Steven P., Sukovich, Jonathan R., Hall, Timothy, Xu, Zhen, May, Philip, Lin, Daniel W., Constans, Charlotte, Deffieux, Thomas, Aubry, Jean-Francois, Park, Eun-Joo, Ahn, Yun Deok, Kang, Soo Yeon, Park, Dong-Hyuk, Lee, Jae Young, Vidal-Jove, J., Perich, E., Ruiz, A., Jaen, A., Eres, N., del Castillo, M. Alvarez, Myers, Rachel, Kwan, James, Coviello, Christian, Rowe, Cliff, Crake, Calum, Finn, Sean, Jackson, Edward, Pouliopoulos, Antonios, Li, Caiqin, Tinguely, Marc, Tang, Meng-Xing, Garbin, Valeria, Choi, James J., Folkes, Lisa, Stratford, Michael, Nwokeoha, Sandra, Li, Tong, Farr, Navid, D’Andrea, Samantha, Gravelle, Kayla, Chen, Hong, Lee, Donghoon, Hwang, Joo Ha, Tardoski, Sophie, Ngo, Jacqueline, Gineyts, Evelyne, Roux, Jean-Pau, Clézardin, Philippe, Conti, Allegra, Magnin, Rémi, Gerstenmayer, Matthieu, Lux, François, Tillement, Olivier, Mériaux, Sébastien, Penna, Stefania Della, Romani, Gian Luca, Dumont, Erik, Sun, Tao, Power, Chanikarn, Miller, Eric, Sapozhnikov, Oleg, Tsysar, Sergey, Yuldashev, Petr V., Svet, Victor, Li, Dongli, Pellegrino, Antonio, Petrinic, Nik, Siviour, Clive, Jerusalem, Antoine, Yuldashev, Peter V., Cunitz, Bryan W., Dunmire, Barbrina, Inserra, Claude, Guedra, Matthieu, Mauger, Cyril, Gilles, Bruno, Solovchuk, Maxim, Sheu, Tony W. H., Thiriet, Marc, Zhou, Yufeng, Neufeld, Esra, Baumgartner, Christian, Payne, Davnah, Kyriakou, Adamos, Kuster, Niels, Xiao, Xu, McLeod, Helen, Dillon, Christopher, Payne, Allison, Khokhova, Vera A., Sinilshchikov, Ilya, Andriyakhina, Yulia, Rybyanets, Andrey, Shvetsova, Natalia, Berkovich, Alex, Shvetsov, Igor, Shaw, Caroline J., Civale, John, Giussani, Dino, Lees, Christoph, Ozenne, Valery, Toupin, Solenn, Salgaonkar, Vasant, Kaye, Elena, Monette, Sebastien, Maybody, Majid, Srimathveeravalli, Govindarajan, Solomon, Stephen, Gulati, Amitabh, Bezzi, Mario, Jenne, Jürgen W., Lango, Thomas, Müller, Michael, Sat, Giora, Tanner, Christine, Zangos, Stephan, Günther, Matthias, Dinh, Au Hoang, Niaf, Emilie, Bratan, Flavie, Guillen, Nicolas, Souchon, Rémi, Lartizien, Carole, Crouzet, Sebastien, Rouviere, Olivier, Han, Yang, Payen, Thomas, Palermo, Carmine, Sastra, Steve, Olive, Kenneth, van Breugel, Johanna M., van den Bosch, Maurice A., Fellah, Benjamin, Le Bihan, Denis, Hernandez-Garcia, Luis, Cain, Charles A., Lyka, Erasmia, Elbes, Delphine, Li, Chunhui, Tamano, Satoshi, Jimbo, Hayato, Yoshizawa, Shin, Fujiwara, Keisuke, Itani, Kazunori, Umemura, Shin-ichiro, Stoianovici, Dan, Zaini, Zulfadhli, Takagi, Ryo, Zong, Shenyan, Watkins, Ron, Pascal-Tenorio, Aurea, Jones, Peter, Butts-Pauly, Kim, Bouley, Donna, Chen, Yazhu, Lin, Chung-Yin, Hsieh, Han-Yi, Wei, Kuo-Chen, Garnier, Camille, Renault, Gilles, Seifabadi, Reza, Wilson, Emmanuel, Eranki, Avinash, Kim, Peter, Lübke, Dennis, Huber, Peter, Georgii, Joachim, Dresky, Caroline V., Haller, Julian, Yarmolenko, Pavel, Sharma, Karun, Celik, Haydar, Li, Guofeng, Qiu, Weibao, Zheng, Hairong, Tsai, Meng-Yen, Chu, Po-Chun, Webb, Taylor, Vyas, Urvi, Walker, Matthew, Zhong, Jidan, Waspe, Adam C., Hodaie, Mojgan, Yang, Feng-Yi, Huang, Sin-Luo, Zur, Yuval, Assif, Benny, Aurup, Christian, Kamimura, Hermes, Carneiro, Antonio A., Rothlübbers, Sven, Schwaab, Julia, Houston, Graeme, Azhari, Haim, Weiss, Noam, Sosna, Jacob, Goldberg, S. Nahum, Barrere, Victor, Jang, Kee W., Lewis, Bobbi, Wang, Xiaotong, Suomi, Visa, Edwards, David, Larrabee, Zahary, Hananel, Arik, Rafaely, Boaz, Debbiny, Rasha Elaimy, Dekel, Carmel Zeltser, Assa, Michael, Menikou, George, Mouratidis, Petros, Pineda-Pardo, José A., de Pedro, Marta Del Álamo, Martinez, Raul, Hernandez, Frida, Casas, Silvia, Oliver, Carlos, Pastor, Patricia, Vela, Lidia, Obeso, Jose, Greillier, Paul, Zorgani, Ali, Catheline, Stefan, Solovov, Vyacheslav, Vozdvizhenskiy, Michael O., Orlov, Andrew E., Wu, Chueh-Hung, Sun, Ming-Kuan, Shih, Tiffany T., Chen, Wen-Shiang, Prieur, Fabrice, Pillon, Arnaud, Cartron, Valerie, Cebe, Patrick, Chansard, Nathalie, Lafond, Maxime, Seya, Pauline Muleki, Bera, Jean-Christophe, Boissenot, Tanguy, Fattal, Elias, Bordat, Alexandre, Chacun, Helene, Guetin, Claire, Tsapis, Nicolas, Maruyama, Kazuo, Unga, Johan, Suzuki, Ryo, Fant, Cécile, Rogez, Bernadette, Afadzi, Mercy, Myhre, Ola Finneng, Vea, Siri, Bjørkøy, Astrid, Yemane, Petros Tesfamichael, van Wamel, Annemieke, Berg, Sigrid, Hansen, Rune, Angelsen, Bjørn, and Davies, Catharina

Published
2017
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33. Impairment of the ubiquitin-proteasome pathway is a downstream endoplasmic reticulum stress response induced by extracellular human islet amyloid polypeptide and contributes to pancreatic beta-cell apoptosis.

Author

Casas S, Gomis R, Gribble FM, Altirriba J, Knuutila S, Novials A, Casas, Sílvia, Gomis, Ramon, Gribble, Fiona M, Altirriba, Jordi, Knuutila, Sakari, and Novials, Anna

Abstract

Objective: Human islet amyloid polypeptide (hIAPP) aggregation plays a major role in the development of islet amyloidosis in type 2 diabetes. It is known that extracellular hIAPP oligomers are toxic to pancreatic beta-cells and associated with apoptosis. We therefore investigated the molecular mechanism by which extracellular hIAPP mediates pancreatic beta-cell apoptosis.Research Design and Methods: MIN6 cells and primary cultures of human pancreatic islets were treated with freshly dissolved hIAPP peptide. Morphology of the cultures was evaluated by electron microscopy. Gene expression was analyzed by microarray, RT-PCR, and immunoblot. Calcium levels were measured in fura-2-loaded cells. Apoptosis was quantified by cytometry.Results: Increased expression of several heat shock proteins and activation of the spliced form of XBP-1, a transcription factor for overexpression of chaperones during endoplasmic reticulum (ER) stress, were detected together with morphological evidence of ER dysfunction. Intracellular calcium overload was detected in association with this process. Moreover, reduction in the proteasome activity, which was detected over time, contributed to the intracellular accumulation of ubiquitinated proteins, leading to a functional suppression of the ubiquitin-proteasome pathway. In addition, impairment of the proteasome function contributed to apoptosis, while, despite the presence of hIAPP, cell viability improved when a proteasome activator was overexpressed. The key cytotoxic events induced by extracellular hIAPP were also observed in treated human islets.Conclusions: Our data suggest that ER stress responses are intracellular signaling mechanisms induced by extracellular hIAPP aggregation and that impairment of the ubiquitin-proteasome pathway is implicated in ER stress-mediated pancreatic beta-cell apoptosis. [ABSTRACT FROM AUTHOR]

Published
2007
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34. Aberrant Expression of HOXA9 , DEK , CBL and CSF1R in Acute Myeloid Leukemia.

Author

Casas, Sílvia, Nagy, Bálint, Elonen, Erkki, Aventín, Anna, Larramendy, Marcelo L., Sierra, Jorge, Ruutu, Tapani, and Knuutila, Sakari

Subjects
*ACUTE myeloid leukemia, *GENE expression, *CD antigens
Abstract

Previous gene function analyses have indicated that HOXA9 , DEK , CBL and CSF1R are aberrantly expressed in acute myeloid leukemia (AML). We analyzed the expression of these genes in a series of 41 adult patients with AML using quantitative real-time RT-PCR, and tested the association of the expression with the following hematologic and clinical parameters: age, FAB, immunophenotype and karyotype aberrations. A high proportion of the patients showed over- or underexpression of the analyzed genes. DEK was overexpressed in 98% of the cases, whereas CBL , CSF1R and HOXA9 were either overexpressed in 20%, 17% and 78% or underexpressed in 20%, 42% and 15% of the cases, respectively. Patients whose karyotype contained t(8;21)(q22;q22), showed lower relative expression of HOXA9 at a statistically significant level ( p <0.05). Bone marrow samples without expression of CD34 antigen were associated with either overexpression of DEK or HOXA9 . Furthermore, an association was found between the AML-M2 subtype and lower expression of CBL , CSF1R or HOXA9 , and between the AML-M5 subtype and CBL or CSF1R overexpression. [ABSTRACT FROM AUTHOR]

Published
2003
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38. Amylin and hypertension: association of an amylin -G132A gene mutation and hypertension in humans and amylin-induced endothelium dysfunction in rats.

Author

Novials A, Rodriguez-Mañas L, Chico A, El Assar M, Casas S, and Gomis R

Subjects
Aged, Animals, Diabetes Mellitus, Type 2 complications, Endothelium, Vascular drug effects, Female, Humans, Islet Amyloid Polypeptide, Male, Middle Aged, Polymorphism, Single Nucleotide, Rats, Rats, Sprague-Dawley, Reference Values, Amyloid genetics, Amyloid pharmacology, Diabetes Mellitus, Type 2 genetics, Endothelium, Vascular physiopathology, Hypertension genetics, Mutation
Abstract

Context: Amylin has been linked to the development of hypertension in several pathological states related to hypertension and insulin resistance, although there is scant data regarding its potential mechanisms of action. The -132 G/A mutation located within an activator domain of the amylin gene's promoter was first identified in a small cohort of Spanish patients with type 2 diabetes., Objective: The objective of the study was to test the interference of amylin peptide with endothelium-dependent responses as an added potential mechanism for amylin-induced hypertension., Design: A total of 384 patients with type 2 diabetes and 207 healthy controls were subjected to clinical analysis and genetic screening for the -132 G/A mutation of the amylin gene. The effect of amylin on endothelium-dependent responses was analyzed in aortic rings and mesenteric microvessels from nondiabetic rats., Results: The prevalence of the mutation was 10.1 vs. 0.9% in the control population (P<0.001). Hypertension was higher in a diabetic population carrying the mutation than in diabetic noncarriers (74 vs. 57%; P<0.05). Diabetic carriers showed higher fasting amylin levels than diabetic noncarriers (11.4+/-7 vs. 8.2+/-3 pmol/liter; P<0.05). Preincubation with 20 pmol/liter amylin impaired the relaxant responses induced by acetylcholine in rat aorta and mesenteric microvessels. This effect was abolished in both vascular beds in the presence of 100 micromol/liter NG-nitro-L-arginine methyl ester., Conclusions: We propose that amylin levels and hypertension may be linked by a novel mechanism involving the capacity of amylin to induce endothelial dysfunction by interfering with nitric oxide-mediated responses.

Published
2007
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39. Interstitial deletions at the long arm of chromosome 13 may be as common as monosomies in multiple myeloma. A genotypic study.

Author

Nomdedéu JF, Lasa A, Ubeda J, Saglio G, Bellido M, Casas S, Carnicer MJ, Aventín A, Sureda A, Sierra J, and Baiget M

Subjects
Adult, Aged, Brazil, Chromosome Mapping, Chromosomes, Human, Pair 13 ultrastructure, DNA, Neoplasm analysis, DNA, Neoplasm genetics, Electrophoresis, Polyacrylamide Gel, Female, Genetic Markers, Genotype, Humans, Immunophenotyping, Loss of Heterozygosity, Male, Microsatellite Repeats, Middle Aged, Monosomy, Nucleic Acid Hybridization, Polymerase Chain Reaction, Chromosome Deletion, Chromosomes, Human, Pair 13 genetics, Multiple Myeloma genetics
Abstract

Background and Objectives: Deletions at the long arm of chromosome 13, mostly at the q14, and monosomy of chromosome 13 are described to be common in multiple myeloma (MM). 13q- has been associated with an adverse outcome and it has been proposed as one of the most important prognostic factors for MM patients. Deletions of 13q14 are rare in monoclonal gammopathy of undetermined significance (MGUS) and are thus believed to be associated with the development of the full myeloma phenotype., Design and Methods: A genotyping analysis on purified neoplastic plasma cells was performed on 14 consecutive MM cases to determine the minimally deleted region at chromosome 13. Freshly obtained bone marrow was analyzed by flow cytometry in order to establish the percentage of plasma cell infiltration (CD38+BB4+CD56+/-CD19-). Neoplastic enrichment was carried out using BB4 coated immunomagnetic beads. This method allowed us to monitor the enrichment process. DNA obtained from the enriched neoplastic population and DNA from the clean fraction was amplified using combination sets of chromosomes 12 and 13. Amplimers were run on acrylamide gels, analyzed by automatic fluorescence quantification, and their size determined using the software programs Genescan and Genotyper., Results: In 11 patients electropherograms were suggestive of loss of heterozygosity (LOH) for polymorphic markers located at the long arm of chromosome 13. Four patients showed monosomy and 7 had interstitial deletions in the telomeric region. LOH was not evidenced at chromosome 12 in any sample. The minimal region with deletion was defined by the markers D13S159 (13q32.2, centromeric) and D13S1267 (13q32.3, telomeric). A gene with a potentially pathogenic role may be located in this very small region. Three patients did not show LOH at chromosome 13 by genotypic analysis; however, in one of these, proximal deletion at the long arm of chromosome 13 (13q2.1-2.2) was demonstrated by comparative genomic hybridization (CGH)., Interpretation and Conclusions: These findings suggest that interstitial deletions of the long arm of chromosome 13 may be more common than previously recognized. The methodologic approach reported in this work may simplify LOH analysis in MM patients. The potential uses of genotyping analysis in risk stratification remain to be investigated.

Published
2002

40. Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe.

Author

Aventín A, Espadaler M, Casas S, Duarte J, Nomdedéu J, and Sierra J

Subjects
Adult, Color, Core Binding Factor beta Subunit, DNA Probes genetics, DNA Probes metabolism, Humans, Karyotyping, Male, Middle Aged, Transcription Factor AP-2, Chromosome Inversion, Chromosomes, Human, Pair 16 genetics, DNA-Binding Proteins genetics, In Situ Hybridization, Fluorescence methods, Leukemia, Myeloid, Acute genetics, Transcription Factors genetics, Translocation, Genetic genetics
Abstract

We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv(16)(p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe. Additional FISH analysis with a dual-color CBFB DNA probe showed that the 3' portion of the CBFB gene was translocated to chromosome 10p13 in the first patient and 1p36 in the other. These two cases indicate that some inv(16)(p13q22) identified by CC and FISH with chromosome arm-specific painting probe may represent cases of inversion-associated translocation. We suggest that all cases with inv(16)(p13q22) should be investigated by FISH with appropriate probes for a possible translocation of 16q22-->qter to another chromosome.

Published
2002
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