Abstract：
BACKGROUND:Pheochromocytoma (Pheo) is usually considered a sporadic disease. Recently, an increasing rate of genetically based tumors has been reported. However, the need for systematic screening of unsuspected germline mutations in apparently sporadic forms is still debated. This study aimed to assess the effective rate of germline mutations causing Pheo and Paraganglioma (PGL), and the role of systematic genetic screening. METHODS:Demographics, clinical, and genetic evaluation were performed in a series of 71 patients with Pheo and/or PGL. RESULTS:Twelve patients had evident inherited/familial disease at presentation: NF1 (n = 4); MEN2 (n = 4), and familial Pheo/PGL (n = 4). Among 59 patients with apparently sporadic disease, unsuspected germline mutations occurred in 8 cases: TMEM127 (n = 4), SDHB (n = 2), VHL (n = 1), SDHC (n = 1). No differences were found between hereditary and sporadic disease concerning age, sex, and tumor size; bilateral Pheo and/or PGL and recurrences occurred most often in hereditary disease. CONCLUSION:Hereditary Pheo and/or PGL are frequent (28.2%). Inheritance is evident at presentation only in 16.9% of cases; 13.6% of apparently sporadic variants are genetically determined. Despite increased costs, systematic genetic screening might be useful because it might lead to a stricter follow-up, early diagnosis of recurrences in index cases and presymptomatic detection of disease in relatives.
journal_name
Surgeryjournal_title
Surgeryauthors
Iacobone M,Schiavi F,Bottussi M,Taschin E,Bobisse S,Fassina A,Opocher G,Favia Gdoi
10.1016/j.surg.2011.09.024subject
Has Abstractpub_date
2011-12-01 00:00:00pages
1194-201issue
6eissn
0039-6060issn
1532-7361pii
S0039-6060(11)00538-1journal_volume
150pub_type
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