ECE2020 Audio ePoster Presentations Thyroid (144 abstracts)
Next generation sequencing of 12-gene panel Molecular profiling of Thyroid cancer: An indian study
Ramesh Bangaraiahgari 1 , Ramakanth Bhargav Panchangam 2 , Sabaretnam Mayilvaganan 3 , Rakshith G 4 , Rajesh B 5 , Rafi Md 1 , Lakshmi Akshaya Ramesh D 6 , Akhila V 6 , Shiran Shetty M 6 , Shreshta T 6 & Sweeya P 6
1Surabhi Medical College, Biochemistry; 2Endocare Hospital, Endocrine Surgery; 3SGPGIMS, Endocrine Surgery; 4Apollo Hospital, Medicine; 5Surabhi Medical College, Anatomy; 6Surabhi Medical College, mbbs
Introduction: Next-generation sequencing (NGS) in thyroid cancer allows for high-throughput sequencing analysis of various genetic alterations and provides a useful information of tumor biology. NGS Studies on follicular differentiated thyroid cancer have been scantyfrom Indian subcontinent. In this context, we set out study the prevalence of a genetic panel wide somatic mutations in thyroid cancer.
Material and Methods: This prospective study was conducted on 40 paraffin embedded thyroidectomy surgical tissue samples. Institutional ethical committee approval was obtained. Followup details are documented and analysed. Mutation analysis with a 12-gene mutation panel using real-time PCR and ThyroSeq v2 on the Ion Torrent PGM sequencer was employed.
Results: Common single nucleotide polymorphisms (SNPs) with a minor allele frequency of >0.05, asdocumented in dbSNP; noncoding region variants; and variants in repetitive regions were excluded. Mutations were also manually checked using the Integrated Genomics Viewer v2.4.10 to filter out false positives. The analysis found mutations commonly in BRAF (30)), CDKN2A (19), NRAS (12), PI3KCA (17), RET (8), RAS (24) and TP53 (5) genes. The common mutations found in the samples was RET (M918T), NRAS (Q61R), BRAF (V600E) and missense mutation in TP53(c.217–c.1178). A mutation has also been identified in KMT2D gene in two of the patient samples. BRAF, CDKN2A, PI3KCA were more common in papillary cancer; RAS, NRAS, RET mutations were common in follicular cancer; TP53 and KMT2D were seen only in poorly differentiated cancer.
Conclusions: NGS helps in patient management, providing risk stratification and subtyping of malignancy. It can be used in molecular tumor classification, and molecular prediction of recurrence and metastasis in thyroid carcinoma. To the best of our knowledge, this is one of its kind study from Indian subcontinent
Keywords: Thyroid cancer, BRAF gene, RAS gene, genomics, mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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