Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening
作者： D. Iacovazzo , L.C. Hernández-Ramírez , M. Korbonits
DOI: 10.1080/17446651.2017.1306439
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摘要: ABSTRACTIntroduction: Although most pituitary adenomas occur sporadically, these common tumors can present in a familial setting approximately 5% of cases. Germline mutations several genes with autosomal dominant (AIP, MEN1, CDKN1B, PRKAR1A, SDHx) or X-linked (GPR101) inheritance are causative adenomas. Due to variable disease penetrance and occurrence de novo mutations, some patients harboring germline have no family history (simplex cases).Areas covered: We summarize the recent findings on role associated sporadic clinical presentation.Expert commentary: Up 12% young onset (age at diagnosis/onset ≤30 years) up 25% simplex gigantism carry AIP gene, while cases acrogigantism (XLAG) due GPR101 duplication female very early ...
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