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Endocrine Abstracts (2020) 70 AEP950 | DOI: 10.1530/endoabs.70.AEP950

1Endocare Hospital, Endocrine Surgery, India; 2Surabhi Medical College, Biochemistry; 3Surabhi Medical College, Anatomy; 4Sri Rishika LifeSciences Pvt Ltd, Genetics; 5SGPGIMS, Endocrine Surgery; 6Apollo Hospital, Medicine; 7Surabhi Medical College, mbbs


Introduction: Poorly differentiated thyroid cancer (PDC) is a relatively rare form of differentiated thyroid caner with intermediate prognosis between well differentiated (WDTC) and anaplastic cancers (ATC). But, this finding is debatable in literature. Genomics is the one of definitive modalities to resolve this conundrum. ATC tends to express P53 and KMT2D mutations frequently, while WDTC have no such mutations. Similar studies are scanty in PDC. In this context, we set out study the prevalence of these somatic mutations in surgical tissue samples of PDC.

Material and Methods: This prospective study was conducted on surgically managed thyroid cancerpatients. Institutional ethical committee approval was obtained. Diagnosis was based on biochemical confirmation, imaging, fine needle aspiration cytology and later confirmed by histopathology. We selected 10 PDC, 3 ATC and 25 WDTC cases. Tumour tissue samples were taken from ex-vivo thyroidectomy specimen within operation theatre. After appropriate processing of samples, DNA extraction, cDNA preparation, PCR amplification, application of 2 sets of Primers were performed as part of mutational analysis of P53 and KMT2D genes.

Results: Heterozygous mutations in KMT2D gene and missense mutation in P53 genewere found in 3/10 (30%) and 5/10 (50%) of PDC cases respectively. In ATC, KMT2D mutations were seen in 2/3 (67%) and 3/3 (100%) cases. In WDTC, mutations were not seen in either of these two genes.

Conclusions: Our study shows a distinct chronological pattern of mutations in KMT2D and P53 genes suggesting correlation between the gene function and cancer cell differentiation. Further, PDC appears to be intermediate in mutation frequency, with WDTC on lower side and ATC on higher side of scale. Though our results are not robust, it sets precedent for larger multi-institutional studies to justify this observation in future.

Keywords: thyroid cancer, poorly differentiated cancer, anaplasia, follicular cell.

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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