A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations

VernacularTitle:不同基因突变方式的两个多发性内分泌腺瘤病2A型家系相关临床特征比较
Author: Yu WENG ^{1
,

2} ; Shengneng XUE ; Shaoling ZHANG ; Hua CHENG ; Li YAN
Author Information

1. 510120 广州,中山大学孙逸仙纪念医院内分泌科
2. 广东省第二人民医院内分泌科,广州,510370
Keywords: Multiple endocrine neoplasia type 2a; RET proto-oncogene; Mutations
From: Chinese Journal of Internal Medicine 2018;57(2):134-137
CountryChina
Language:Chinese
Abstract: Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome. Here, two different RET proto-oncogen mutation were identified from family members of two MEN2A pedigrees by genetic screening. One RET mutations were found at codons 1893 and 1895 in exon 11 (1893-1895delCGA) from pedigree 1, which is a novel mutation, the other occurs at codon 634 (Cys634Arg) in exon 11 from pedigree 2. However, the clinical characteristics were similar in the patients of the two pedigrees. All the patients were in middle-age at onset. Most of them were firstly diagnosed with bilateral adrenal pheochromocytoma with different degrees of thyroid abnormalities (elevated serum calcitonin with or without thyroid mass, or had been diagnosed with medullary thyroid carcinoma). Some family members were with elevated serum parathyroid hormone but with no other evidences for hyperparathyroidism.