Clinical and histopathological profile of BRAF V600E mutation in conventional papillary thyroid carcinoma in a Filipino population.

UNLABELLED: BRAF V600E is a possible biomarker for risk stratification and prognostication in papillary thyroid carcinoma. Studies on its association with aggressive clinicopathological features among East Asian populations are limited. This study examines the clinical and histopathological features of this mutation in Filipinos with conventional papillary thyroid carcinoma. METHODS: Formalin-fixed, paraffin embedded thyroid tissue blocks of papillary carcinoma for the study period January 2010 to December 2012 were retrieved. Slides were reviewed and described according to tumour size, variant type, sclerosis, multifocality, subcapsular location, extra-thyroidal extension, nodal metastasis, and nodal extracapsular spread. Medical records were reviewed for patient demographics and characteristics. Mutation status was determined using realtime polymerase chain reaction and sequencing. RESULTS: Sixty-five patients were included in this study. BRAF V600E mutation prevalence was 38.46%. The mutation positive group was predominantly female, young (mean age 36 years), with tumour size less than 4 cm, and late-stage disease. Extra-thyroidal extension (60%), significant sclerosis (96%), and subcapsular tumour location (72%) were the most frequent findings. Eighty-three percent of patients with nodal metastasis had extracapsular spread. CONCLUSIONS: Compared to some Asian populations, this study of Filipino patients shows a lower prevalence of BRAF V600E mutation. The clinical and histopathological features of mutation positive patients raise important issues regarding extent of surgical excision and appropriate management of neck metastasis for this group.

Genome-wide screen for atopy susceptibility alleles in the Hutterites.

A genome-wide screen for loci influencing positive skin prick tests (SPT) to airborne allergens was conducted in the Hutterites, a founder population of European ancestry. Positive SPT to 14 standardized allergens was measured in 370 subjects in our primary sample and 324 subjects in a replication sample. Evidence for linkage to positive SPT was assessed using the transmission disequilibrium test (TDT) with 337 autosomal markers (average spacing 9.13 cM, SD = 7.8 cM). Three loci showed the strongest overall evidence of linkage to atopy, with at least one allele-specific and a locus-specific p< 1 x 10(-4). This study provides evidence for at least three atopy-susceptibility loci in the Hutterites on chromosomes 1, 6 and 16.