title: Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients.
abstract: OBJECTIVE
  Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Internal Medicine, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand. maisathit@hotmail.com
authors: Sathit
authors: S
authors: Niramitmahapanya
authors: Thongkum
authors: T
authors: Sunthornthepvarakul
authors: Chaicharn
authors: C
authors: Deerochanawong
authors: Veerasak
authors: V
authors: Sarinnapakorn
authors: Pornake
authors: P
authors: Athipan
authors: Piyathida
authors: P
authors: Harnsomboonvana
authors: Subsai
authors: S
authors: Kongsaengdao
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D044466:Asian People / Q000235:genetics; D005091:Exons; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C454900:CDC73 protein, human; D025521:Tumor Suppressor Proteins