A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.

A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11. Oncol Lett. 2017 Sep;14(3):3552-3558 Authors: Lu F, Chen X, Bai Y, Feng Y, Wu J Abstract The present study identified the clinical features of the largest multiple endocrine neoplasia type 2 (MEN2) A pedigree from China, with a novel double missense rearranged during transfection (RET) mutation (C634Y/D707E). To the best of our knowledge, the D707E mutation has not been identified to date. In the present study, a total of 101 family members who originated from a large pedigree (134 members in total) underwent RET mutation screening by next-generation sequencing and polymerase chain reaction (PCR) amplification, followed by direct bidirectional DNA sequencing. The clinical features of this pedigree were carefully reviewed retrospectively, and statistical analyses were conducted using SPSS software. A total of 33 (32.67%) carriers were identified to exhibit the C634Y/D707E RET germline mutation. The mean age of the patients with medullary thyroid carcinoma (MTC) identified by RET screening was 38.4±16.5 years (n=11; range, 14-65 years). Only 4 patients with pheochromocytoma with a median age of 37 years were identified. No hyperparathyroidism was diagnosed. Persistent or recurrent disease developed in the patients of the present study who underwent inappropriate initial thyroid surgeries that were performed in pr...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research