Pheochromocytomas and pituitary adenomas in three patients with MAX exon deletions

被引：48

作者：

Daly, Adrian F. ^{[1
]}

Castermans, Emilie ^{[2
]}

Oudijk, Lindsey ^{[3
]}

Guitelman, Mirtha A. ^{[4
]}

Beckers, Pablo ^{[5
]}

Potorac, Iulia ^{[1
]}

Neggers, Sebastian J. C. M. M. ^{[6
]}

Sacre, Nathalie ^{[2
]}

van der Lely, Aart-Jan ^{[6
]}

Bours, Vincent ^{[2
]}

de Herder, Wouter W. ^{[6
]}

Beckers, Albert ^{[1
]}

机构：

[1] Univ Liege, Dept Endocrinol, Ctr Hosp Univ Liege, Liege, Belgium

[2] Univ Liege, Dept Human Genet, Ctr Hosp Univ Liege, Liege, Belgium

[3] Erasmus MC, Dept Pathol, Rotterdam, Netherlands

[4] Hosp Carlos G Durand, Div Endocrinol, Buenos Aires, DF, Argentina

[5] Univ Liege, Dept Clin Chem, Ctr Hosp Univ Liege, Liege, Belgium

[6] Erasmus MC, Dept Endocrinol, Rotterdam, Netherlands

来源：

关键词：

PARAGANGLIOMA; ASSOCIATION; HEREDITARY; MUTATIONS; FAMILY;

D O I：

10.1530/ERC-18-0065

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：L37 / L42

页数：6

共 11 条

[1] Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients [J].

Bayley, Jean-Pierre ;

Weiss, Marjan M. ;

Grimbergen, Anneliese ;

van Brussel, Bernadette T. J. ;

Hes, Frederik J. ;

Jansen, Jeroen C. ;

Verhoef, Senno ;

Devilee, Peter ;

Corssmit, Eleonora P. ;

Vriends, Annette H. J. T. .

[2] MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma [J].

Burnichon, Nelly ;

Cascon, Alberto ;

Schiavi, Francesca ;

Morales, Nicole Paes ;

Comino-Mendez, Inaki ;

Abermil, Nassera ;

Inglada-Perez, Lucia ;

de Cubas, Aguirre A. ;

Amar, Laurence ;

Barontini, Marta ;

de Quiros, Sandra Bernaldo ;

Bertherat, Jerome ;

Bignon, Yves-Jean ;

Blok, Marinus J. ;

Bobisse, Sara ;

Borrego, Salud ;

Castellano, Maurizio ;

Chanson, Philippe ;

Chiara, Maria-Dolores ;

Corssmit, Eleonora P. M. ;

Giacche, Mara ;

de Krijger, Ronald R. ;

Ercolino, Tonino ;

Girerd, Xavier ;

Gomez-Garcia, Encarna B. ;

Gomez-Grana, Alvaro ;

Guilhem, Isabelle ;

Hes, Frederik J. ;

Honrado, Emiliano ;

Korpershoek, Esther ;

Lenders, Jacques W. M. ;

Leton, Rocio ;

Mensenkamp, Arjen R. ;

Merlo, Anna ;

Mori, Luigi ;

Murat, Arnaud ;

Pierre, Peggy ;

Plouin, Pierre-Francois ;

Prodanov, Tamara ;

Quesada-Chameco, Miguel ;

Qin, Nan ;

Rapizzi, Elena ;

Raymond, Victoria ;

Reisch, Nicole ;

Roncador, Giovanna ;

Ruiz-Ferrer, Macarena ;

Schillo, Frank ;

Stegmann, Alexander P. A. ;

Suarez, Carlos ;

Taschin, Elisa .

CLINICAL CANCER RESEARCH, 2012, 18 (10) :2828-2837

[3] Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma [J].

Comino-Mendez, Inaki ;

Gracia-Aznarez, Francisco J. ;

Schiavi, Francesca ;

Landa, Inigo ;

Leandro-Garcia, Luis J. ;

Leton, Roco ;

Honrado, Emiliano ;

Ramos-Medina, Rocio ;

Caronia, Daniela ;

Pita, Guillermo ;

Gomez-Grana, Alvaro ;

de Cubas, Aguirre A. ;

Inglada-Perez, Lucia ;

Maliszewska, Agnieszka ;

Taschin, Elisa ;

Bobisse, Sara ;

Pica, Giuseppe ;

Loli, Paola ;

Hernandez-Lavado, Rafael ;

Diaz, Jose A. ;

Gomez-Morales, Mercedes ;

Gonzalez-Neira, Anna ;

Roncador, Giovanna ;

Rodriguez-Antona, Cristina ;

Benitez, Javier ;

Mannelli, Massimo ;

Opocher, Giuseppe ;

Robledo, Mercedes ;

Cascon, Alberto .

NATURE GENETICS, 2011, 43 (07) :663-U189

[4] Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort [J].

Denes, Judit ;

Swords, Francesca ;

Rattenberry, Eleanor ;

Stals, Karen ;

Owens, Martina ;

Cranston, Treena ;

Xekouki, Paraskevi ;

Moran, Linda ;

Kumar, Ajith ;

Wassif, Christopher ;

Fersht, Naomi ;

Baldeweg, Stephanie E. ;

Morris, Damian ;

Lightman, Stafford ;

Agha, Amar ;

Rees, Aled ;

Grieve, Joan ;

Powell, Michael ;

Boguszewski, Cesar Luiz ;

Dutta, Pinaki ;

Thakker, Rajesh V. ;

Srirangalingam, Umasuthan ;

Thompson, Chris J. ;

Druce, Maralyn ;

Higham, Claire ;

Davis, Julian ;

Eeles, Rosalind ;

Stevenson, Mark ;

O'Sullivan, Brendan ;

Taniere, Phillipe ;

Skordilis, Kassiani ;

Gabrovska, Plamena ;

Barlier, Anne ;

Webb, Susan M. ;

Aulinas, Anna ;

Drake, William M. ;

Bevan, John S. ;

Preda, Cristina ;

Dalantaeva, Nadezhda ;

Ribeiro-Oliveira, Antonio, Jr. ;

Garcia, Isabel Tena ;

Yordanova, Galina ;

Iotova, Violeta ;

Evanson, Jane ;

Grossman, Ashley B. ;

Trouillas, Jacqueline ;

Ellard, Sian ;

Stratakis, Constantine A. ;

Maher, Eamonn R. ;

Roncaroli, Federico .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (03) :E531-E541

[5] Pituitary adenoma associated with pheochromocytoma/paraganglioma: A new form of multiple endocrine neoplasia [J].

Guerrero Perez, Fernando ;

Lisbona Gil, Arturo ;

Robledo, Mercedes ;

Iglesias, Pedro ;

Villabona Artero, Carles .

ENDOCRINOLOGIA Y NUTRICION, 2016, 63 (09) :506-508

[6] Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis [J].

Korpershoek, Esther ;

Koffy, Djamailys ;

Eussen, Bert H. ;

Oudijk, Lindsey ;

Papathomas, Thomas G. ;

van Nederveen, Francien H. ;

Belt, Eric J. T. ;

Franssen, Gaston J. H. ;

Restuccia, David F. J. ;

Krol, Niels M. G. ;

van der Luijt, Rob B. ;

Feelders, Richard A. ;

Oldenburg, Rogier A. ;

van Ijcken, Wilfred F. J. ;

de Klein, Annelies ;

de Herder, Wouter W. ;

de Krijger, Ronald R. ;

Dinjens, Winand N. M. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (02) :453-460

[7] The association of pituitary adenomas and phaeochromocytomas or paragangliomas [J].

O'Toole, Samuel M. ;

Denes, Judit ;

Robledo, Mercedes ;

Stratakis, Constantine A. ;

Korbonits, Marta .

[8] Tumor Risks and Genotype-Phenotype-Proteotype Analysis in 358 Patients With Germline Mutations in SDHB and SDHD [J].

Ricketts, Christopher J. ;

Forman, Julia R. ;

Rattenberry, Eleanor ;

Bradshaw, Nicola ;

Lalloo, Fiona ;

Izatt, Louise ;

Cole, Trevor R. ;

Armstrong, Ruth ;

Kumar, V. K. Ajith ;

Morrison, Patrick J. ;

Atkinson, A. Brew ;

Douglas, Fiona ;

Ball, Steve G. ;

Cook, Jackie ;

Srirangalingam, Umasuthan ;

Killick, Pip ;

Kirby, Gail ;

Aylwin, Simon ;

Woodward, Emma R. ;

Evans, D. Gareth R. ;

Hodgson, Shirley V. ;

Murday, Vicky ;

Chew, Shern L. ;

Connell, John M. ;

Blunde, Tom L. ;

MacDonald, Fiona ;

Maher, Eamonn R. .

HUMAN MUTATION, 2010, 31 (01) :41-51

[9]

Roszko KL, 2017, J ENDOCR SOC, V1, P1401, DOI 10.1210/js.2017-00135

[10] Pituitary Adenoma With Paraganglioma/Pheochromocytoma (3PAs) and Succinate Dehydrogenase Defects in Humans and Mice [J].

Xekouki, Paraskevi ;

Szarek, Eva ;

Bullova, Petra ;

Giubellino, Alessio ;

Quezado, Martha ;

Mastroyannis, Spyridon A. ;

Mastorakos, Panagiotis ;

Wassif, Christopher A. ;

Raygada, Margarita ;

Rentia, Nadia ;

Dye, Louis ;

Cougnoux, Antony ;

Koziol, Deloris ;

Sierra, Maria de la Luz ;

Lyssikatos, Charalampos ;

Belyavskaya, Elena ;

Malchoff, Carl ;

Moline, Jessica ;

Eng, Charis ;

Maher, Louis James, III ;

Pacak, Karel ;

Lodish, Maya ;

Stratakis, Constantine A. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (05) :E710-E719

← 1 2 →