Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma

被引：4

作者：

Cascon, Alberto ^{[1
]}

Robledo, Mercedes ^{[1
]}

机构：

[1] Spanish Natl Canc Res Ctr CNIO, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Hereditary Endocrine Canc Grp, Madrid 28029, Spain

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER | 2024年 / 1879卷 / 05期

关键词：

Pheochromocytoma; Paraganglioma; Omics; Molecular markers; Cancer genetics; SPORADIC PHEOCHROMOCYTOMA; GERMLINE MUTATIONS; FUMARATE HYDRATASE; SDHX MUTATIONS; MAX MUTATIONS; SUCCINATE; DEHYDROGENASE; VARIANTS; GENES; IMMUNOHISTOCHEMISTRY;

D O I：

10.1016/j.bbcan.2024.189141

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an overdetection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes. Accurate classification of VUS and identification of new genes require well-defined clinical and molecular markers that allow effective genetic diagnosis of most PPGLs.

引用

页数：7

共 51 条

[1] Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update [J].

Armaiz-Pena, Gustavo ;

Flores, Shahida K. ;

Cheng, Zi-Ming ;

Zhang, Xhingyu ;

Esquivel, Emmanuel ;

Poullard, Natalie ;

Vaidyanathan, Anusha ;

Liu, Qianqian ;

Michalek, Joel ;

Santillan-Gomez, Alfredo A. ;

Liss, Michael ;

Ahmadi, Sara ;

Katselnik, Daniel ;

Maldonado, Enrique ;

Salgado, Sarimar Agosto ;

Jimenez, Camilo ;

Fishbein, Lauren ;

Hamidi, Oksana ;

Else, Tobias ;

Lechan, Ron ;

Tischler, Art S. ;

Benn, Diana E. ;

Dwight, Trisha ;

Clifton-Bligh, Rory ;

Sanso, Gabriela ;

Barontini, Marta ;

Vincent, Deepa ;

Aronin, Neil ;

Biondi, Bernadette ;

Koops, Maureen ;

Bowhay-Carnes, Elizabeth ;

Gimenez-Roqueplo, Anne-Paule ;

Alvarez-Eslava, Andrea ;

Bruder, Jan M. ;

Kitano, Mio ;

Burnichon, Nelly ;

Ding, Yanli ;

Dahia, Patricia L. M. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2021, 106 (01) :E350-E364

[2] Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status [J].

Bardella, Chiara ;

El-Bahrawy, Mona ;

Frizzell, Norma ;

Adam, Julie ;

Ternette, Nicola ;

Hatipoglu, Emine ;

Howarth, Kimberley ;

O'Flaherty, Linda ;

Roberts, Ian ;

Turner, Gareth ;

Taylor, Jennifer ;

Giaslakiotis, Konstantinos ;

Macaulay, Valentine M. ;

Harris, Adrian L. ;

Chandra, Ashish ;

Lehtonen, Heli J. ;

Launonen, Virpi ;

Aaltonen, Lauri A. ;

Pugh, Christopher W. ;

Mihai, Radu ;

Trudgian, David ;

Kessler, Benedikt ;

Baynes, John W. ;

Ratcliffe, Peter J. ;

Tomlinson, Ian P. ;

Pollard, Patrick J. .

JOURNAL OF PATHOLOGY, 2011, 225 (01) :4-11

[3] Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations [J].

Bayley, Jean-Pierre ;

Oldenburg, Rogier A. ;

Nuk, Jennifer ;

Hoekstra, Attje S. ;

van der Meer, Conny A. ;

Korpershoek, Esther ;

McGillivray, Barbara ;

Corssmit, Eleonora P. M. ;

Dinjens, Winand N. M. ;

de Krijger, Ronald R. ;

Devilee, Peter ;

Jansen, Jeroen C. ;

Hes, Frederik J. .

BMC MEDICAL GENETICS, 2014, 15

[4] Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views [J].

Bertier, Gabrielle ;

Hetu, Martin ;

Joly, Yann .

BMC MEDICAL GENOMICS, 2016, 9

[5] Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas [J].

Buffet, Alexandre ;

Morin, Aurelie ;

Castro-Vega, Luis-Jaime ;

Habarou, Florence ;

Lussey-Lepoutre, Charlotte ;

Letouze, Eric ;

Lefebvre, Herve ;

Guilhem, Isabelle ;

Haissaguerre, Magalie ;

Raingeard, Isabelle ;

Padilla-Girola, Mathilde ;

Thi Tran ;

Tchara, Lucien ;

Bertherat, Jerome ;

Amar, Laurence ;

Ottolenghi, Chris ;

Burnichon, Nelly ;

Gimenez-Roqueplo, Anne-Paule ;

Favier, Judith .

CANCER RESEARCH, 2018, 78 (08) :1914-1922

[6] 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

[7] Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma [J].

Calsina, Bruna ;

Pineiro-Yanez, Elena ;

Martinez-Montes, Angel M. ;

Caleiras, Eduardo ;

Fernandez-Sanroman, Angel ;

Monteagudo, Maria ;

Torres-Perez, Rafael ;

Fustero-Torre, Coral ;

Pulgarin-Alfaro, Marta ;

Gil, Eduardo ;

Leton, Rocio ;

Jimenez, Scherezade ;

Garcia-Martin, Santiago ;

Martin, Maria Carmen ;

Roldan-Romero, Juan Maria ;

Lanillos, Javier ;

Mellid, Sara ;

Santos, Maria ;

Diaz-Talavera, Alberto ;

Rubio, Angeles ;

Gonzalez, Patricia ;

Hernando, Barbara ;

Bechmann, Nicole ;

Dona, Margo ;

Calatayud, Maria ;

Guadalix, Sonsoles ;

Alvarez-Escola, Cristina ;

Regojo, Rita M. ;

Aller, Javier ;

Del Olmo-Garcia, Maria Isabel ;

Lopez-Fernandez, Adria ;

Fliedner, Stephanie M. J. ;

Rapizzi, Elena ;

Fassnacht, Martin ;

Beuschlein, Felix ;

Quinkler, Marcus ;

Toledo, Rodrigo A. ;

Mannelli, Massimo ;

Timmers, Henri J. ;

Eisenhofer, Graeme ;

Rodriguez-Perales, Sandra ;

Dominguez, Orlando ;

Macintyre, Geoffrey ;

Curras-Freixes, Maria ;

Rodriguez-Antona, Cristina ;

Cascon, Alberto ;

Leandro-Garcia, Luis J. ;

Montero-Conde, Cristina ;

Roncador, Giovanna ;

Garcia-Garcia, Juan Fernando .

NATURE COMMUNICATIONS, 2023, 14 (01)

[8] Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients [J].

Calsina, Bruna ;

Curras-Freixes, Maria ;

Buffet, Alexandre ;

Pons, Tirso ;

Contreras, Laura ;

Leton, Rocio ;

Comino-Mendez, Inaki ;

Remacha, Laura ;

Calatayud, Maria ;

Obispo, Berta ;

Martin, Antoine ;

Cohen, Regis ;

Richter, Susan ;

Balmana, Judith ;

Korpershoek, Esther ;

Rapizzi, Elena ;

Deutschbein, Timo ;

Vroonen, Laurent ;

Favier, Judith ;

de Krijger, Ronald R. ;

Fassnacht, Martin ;

Beuschlein, Felix ;

Timmers, Henri J. ;

Eisenhofer, Graeme ;

Mannelli, Massimo ;

Pacak, Karel ;

Satrustegui, Jorgina ;

Rodriguez-Antona, Cristina ;

Amar, Laurence ;

Cascon, Alberto ;

Dolker, Nicole ;

Gimenez-Roqueplo, Anne-Paule ;

Robledo, Mercedes .

GENETICS IN MEDICINE, 2018, 20 (12) :1652-1662

[9] Genetic bases of pheochromocytoma and paraganglioma [J].

Cascon, Alberto ;

Calsina, Bruna ;

Monteagudo, Maria ;

Mellid, Sara ;

Diaz-Talavera, Alberto ;

Curras-Freixes, Maria ;

Robledo, Mercedes .

JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2023, 70 (03)

[10] Translating In Vivo Metabolomic Analysis of Succinate Dehydrogenase-Deficient Tumors Into Clinical Utility [J].

Casey, Ruth E. ;

McLean, Mary A. ;

Madhu, Basetti ;

Challis, Benjamin G. ;

ten Hoopen, Rogier ;

Roberts, Thomas ;

Clark, Graeme R. ;

Pitfield, Deborah ;

Simpson, Helen L. ;

Bulusu, Venkata R. ;

Allinson, Kieren ;

Happerfield, Lisa ;

Park, Soo-Mi ;

Marker, Alison ;

Giger, Olivier ;

Maher, Eamonn R. ;

Gallagher, Ferdia A. .

JCO PRECISION ONCOLOGY, 2018, 2 :1-12

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