Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 8, 2013, Pages

  Welander, Jenny ^a   Garvin, Stina ^a,b   Bohnmark, Rickard ^b   Isaksson, Lars ^b   Wiseman, Roger W ^c   Söderkvist, Peter ^a   Gimm, Oliver ^a  

^a LINKÖPING UNIVERSITY   (Sweden)

^b Centre of Surgery and Oncology   (Sweden)

^c UNIVERSITY OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL PAIN; ADULT; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PARAGANGLIOMA; PRIORITY JOURNAL; SDHA GENE; SHORT SURVEY; TUMOR LOCALIZATION; TUMOR VOLUME;

ADULT; ELECTRON TRANSPORT COMPLEX II; FEMALE; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; PARAGANGLIOMA; RETROPERITONEAL NEOPLASMS; SEQUENCE ANALYSIS, DNA;

EID: 84881496683     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1963     Document Type: Short Survey

References (5)

1. Welander J, Soderkvist P, Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2011;18:R253-R276.
2. Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 1995;11:144-149.
3. Burnichon N, Briere JJ, Libe R, et al. SDHAis a tumor suppressor gene causing paraganglioma. Hum Mol Genet. 2010;19:3011-3020.
4. Korpershoek E, Favier J, Gaal J, et al. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab. 2011;96:E1472-E1476.
5. Pantaleo MA, Astolfi A, Indio V, et al. SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. J Natl Cancer Inst. 2011; 103:983-987.