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Endocrine Abstracts (2025) 110 P501 | DOI: 10.1530/endoabs.110.P501

1TRR Institute of Medical Sciences, Hyderabad, India; 2BGH, Vijayawada, India


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Introduction: Poorly differentiated thyroid cancer (PDC) is a relatively infrequent form of differentiated thyroid cancer 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 clarify this moot point. ATC tends to express P53 and KMT2D mutations frequently, while WDTC have no such mutations. Similar Indian 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 cancer patients. Institutional ethical committee approval was obtained. Diagnosis was based on biochemical confirmation, imaging, fine needle aspiration cytology and later confirmed by histopathology. We selected 15 PDC, 4 ATC and 40 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 gene were found in 4/15 (26. 6 %) and 7/15 (45%) of PDC cases respectively. In ATC, KMT2D mutations were seen in 3/4 (75%) and 4/4 (100%) cases. None of these gene mutations were seen WDTC cases.

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

Key words: Thyroid cancer; Poorly differentiated cancer; Anaplasia; Follicular cell)

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
European Society for Paediatric Endocrinology 

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