HRPT2突变筛查对检测泰国患者甲状旁腺癌和非典型甲状旁腺腺瘤的敏感性。

Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients.

作者信息

Niramitmahapanya Sathit, Sunthornthepvarakul Thongkum, Deerochanawong Chaicharn, Sarinnapakorn Veerasak, Athipan Pornake, Harnsomboonvana Piyathida, Kongsaengdao Subsai

机构信息

Department of Internal Medicine, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand.

出版信息

J Med Assoc Thai. 2011 Mar;94 Suppl 2:S17-22.

PMID:21717873

Abstract

OBJECTIVE

Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients.

MATERIAL AND METHOD

Samples of parathyroid carcinoma, typical (atypical) adenoma or hyperplasia were obtained for HRPT2 gene (17 exons) study since September 2001 to August 2010 both somatic and germline by SyBr Green PCR method.

RESULTS

Parathyroid carcinomas and atypical parathyroid adenoma from 5 of 26 patients (10 of 32 samples) were tested for HRPT2 mutations. Only somatic HRPT2 mutations were found in tumor from 2 patients but three patients found both somatic and germline HRPT2 mutations. Exon 15 of HRPT2 gene was the best sensitivity (sensitivity 80.0%; p < 0.001, 95% CI 0.75-1.05) followed by exon 2 and exon 11 (sensitivity 60.0%; p = 0.007, 95% CI 0.60-0.99) to detected parathyroid carcinoma or atypical parathyroid adenoma.

CONCLUSION

HRPT2 mutations by SyBr Green PCR sensitive method to detected parathyroid carcinoma or atypical adenoma from benign parathyroid tissues. Exon 15 was the best sensitive to detected parathyroid carcinoma or atypical adenoma. Genotyping of such family members for germline mutation would focus implementation of clinical and biochemical monitoring of carriers of these mutations.

摘要

目的

检测泰国散发性甲状旁腺功能亢进患者甲状旁腺癌或非典型甲状旁腺腺瘤中的HRPT2突变。

材料与方法

自2001年9月至2010年8月，采用SyBr Green PCR方法获取甲状旁腺癌、典型（非典型）腺瘤或增生的样本，用于HRPT2基因（17个外显子）的体细胞和种系研究。

结果

对26例患者中的5例（32个样本中的10个）的甲状旁腺癌和非典型甲状旁腺腺瘤进行了HRPT2突变检测。仅在2例患者的肿瘤中发现了体细胞HRPT2突变，但有3例患者同时发现了体细胞和种系HRPT2突变。HRPT2基因的外显子15检测甲状旁腺癌或非典型甲状旁腺腺瘤的敏感性最高（敏感性80.0%；p<0.001，95%CI 0.75-1.05），其次是外显子2和外显子11（敏感性60.0%；p = 0.007，95%CI 0.60-0.99）。