Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
作者： Ruth T Casey , Anne Y Warren , Jose Ezequiel Martin , Benjamin G Challis , Eleanor Rattenberry
关键词: Renal cell carcinoma 、 Germline mutation 、 Context (language use) 、 Endocrinology 、 Pheochromocytoma 、 Von Hippel–Lindau disease 、 SDHD 、 Internal medicine 、 Pathology 、 Paraganglioma 、 SDHB 、 Medicine
摘要: Context The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes predisposition PC, paraganglioma (PGL), or head neck (HNPGL) have been described, but case series non-VHL-related cases tumor pheochromocytoma/paraganglioma association (RAPTAS) are rare. Objective To determine clinical molecular features non-VHL RAPTAS by literature review characterization a series. Design A performed retrospective study referrals for investigation RAPTAS. Results Literature revealed evidence an association, in addition VHL disease, between germline mutations SDHB, SDHC, SDHD, TMEM127, MAX genes [defined here as from both classes (PC/PGL/HNPGL tumors) same individual first-degree relatives]. In our 22 probands with RAPTAS, SDHB were most frequent cause identified 36.3% (8/22) kindreds. Conclusion Renal PC/PGL/HNPGL share common their family should prompt investigations. We report MAX-associated cell carcinoma confirm role TMEM127 predisposition.
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