Sensitivity of HRPT2 Mutation Screening to Detect Parathyroid Carcinoma and Atypical Parathyroid Adenoma of Thai Patients
Sathit Niramitmahapanya MD*, Thongkum Sunthornthepvarakul MD*, Chaicharn Deerochanawong MD*, Veerasak Sarinnapakorn MD*, Pornake Athipan MD**, Piyathida Harnsomboonvana MD***, Subsai Kongsaengdao MD***
Affiliation : * Department of Internal Medicine, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand ** Department of Otolaryngology-Head and Neck, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand *** Biomolecular Research Center of Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand
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 paathyroid 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 HRPT 2 gene was the best sensitivity (sensitivity 80.0%; p < 0.001, 95% CI 0.75-
1.05) followed by exon 2 and exon11 (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.
Keywords : Parathyroid carcinoma, Atypical parathyroid adenoma, HRPT2
