Hematology and Oncology

Biography

Biography: Murugan Avaniyapuram Kannan

Abstract

Thyroid cancer is the most common endocrine malignancy. In the past 4 decades, the incidence of thyroid cancer is consistently increasing in all parts of the world. Recently, mutations in the genes of GPCR signaling pathway were reported in thyroid cancer patients of mixed ages. However, the prevalence of mutations of the GPCR signaling pathway genes its significance is completely unknown in pure pediatric and adult DTCs. In this study, we determine the prevalence of the GPCR pathway genes (LPAR4, PIK3CA and PTEN) mutation in pure pediatric and adult DTCs. A total of 310 samples consisting of 17 multi nodular goiters (MNG), 89 pediatric (age < 18 years) and 204 adult (age > 18 years) DTC samples were analyzed for mutations in genes LPAR4 (exon 1), PIK3CA (exons 9 and 20) and PTEN (exons 5, 6, 7 and 8) of the GPCR pathway by PCR amplification of tumor genomic DNAs and direct sequencing of amplicons using Sanger sequencing. Overall, we found 2.7% (2/72) of PIK3CA and 1.4% (1/72) of PTEN in pediatric CPTC (classical papillary thyroid cancer). We identified 3.6% (2/55) of PIK3CA in FV-PTC (Follicular Variant PTC), 3.5% (1/29) of PIK3CA in TPC (Tall-cell PTC), and 1% (1/114) in CPTC of adult thyroid cancer. We did not find any mutations in LPAR4 gene in both pediatric and adult thyroid cancer. We also found two novel mutations one in the PIK3CA gene (C984Y) of a pediatric CPTC and the other in the PTEN gene of an adult CPTC sample. Our study is the first to report GPCR pathway mutations in a pure and adult DTC samples. Our results show a common occurrence of PIK3CA and PTEN mutations but not the LPAR4 mutations in both pediatric and adult DTCs suggest PIK3CA and PTEN genes of the GPCR pathway play a significant role in thyroid carcinogenesis and pave attractive target for therapeutic prevention.