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Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review

2014; Wiley; Volume: 82; Issue: 3 Linguagem: Inglês

10.1111/cen.12530

1365-2265

Juan P. Brito, Noor Asi, Irina Bancos, Michael R. Gionfriddo, Claudia Zeballos‐Palacios, Aaron L. Leppin, Chaitanya Undavalli, Zhen Wang, Juan Pablo Domecq, Gabriela Prustsky, Tarig Elraiyah, Larry J. Prokop, Víctor M. Montori, M. Hassan Murad,

Pituitary Gland Disorders and Treatments

Summary Background The presence of germline mutations in sporadic pheochromocytomas and paragangliomas ( SPP s) may change the clinical management of both index patients and their family members. However, the frequency of germline mutations in SPP s is unknown. Objective To describe the frequency of germline mutations in SPP s and to determine the value of testing index patients and their family members for these mutations. Methods We searched databases through June 2012 for observational studies of patients with SPP s who underwent germline genetic testing. The criteria used to define sporadic tumours were (i) the absence of a family history of PCC / PG , (ii) the absence of syndromic features, (iii) the absence of bilateral disease and (iv) the absence of metastatic disease. Results We included 31 studies including 5031 patients (mean age 44). These patients received tests for any of these ten mutations: SDHAF 2, RET , SDHD , SDHB , SDHC , VHL , TMEM 127, MAX , Isocitrate Dehydrogenase Mutation ( IDH ) and NF 1. The overall frequency of germline mutation in SPP was 551 of 5031 or 11%; when studies with patients fulfilling four criteria for sporadic tumours were used, the frequency was 171 of 1332 or 13%. The most common germline mutation was SDHB 167 of 3611 (4·6%). Little outcome data were available to assess the benefits of genetic testing in index cases and family members. Conclusions The frequency of germline mutations in SPP s is approximately 11–13% and the most common mutations affect less than 1 in 20 patients. The value of testing for germline mutations in patients with SPP s and their family members is unknown, as the balance of potential benefits and harms remains unclear.