ECE2015 Eposter Presentations Thyroid cancer (90 abstracts)
Polymorphisms of cdkn1b gene may influence hereditary medullary thyroid carcinoma aggressiveness
Raquel Bueno Barbieri 1 , Lucas Leite Cunha 1 , Natassia Elena Bufalo 1 , Danilo Villagelin 1, , Lígia Vera Assumpção 1 , Rui Monteiro Maciel 2 , Janete Maria Cerutti 2 & Laura Sterian Ward 1
1University of Campinas – UNICAMP, Campinas/SP, Brazil; 2Federal University of São Paulo – UNIFESP, Sao Paulo/SP, Brazil; 3Pontificia Universidade Católica de Campinas – PUCC, Campinas/SP, Brazil.
Despite the importance of the Ret receptor, it is clear that other signal transduction pathways, tyrosine kinase receptors, and tumours suppressor genes are involved in MTC tumorigenesis and progression. Differences in the clinical behaviour of patients harbouring the same Ret mutations may be related to these other genes. Alterations of genes involved in the G1 phase of the cell cycle, including the cyclins, CDKs and CDK inhibitors, are common events in neoplastic development of a series of different types of tumours. The role of key cell cycle regulations genes in hereditary medullary thyroid cancer (HMTC) is still largely unknown. In order to evaluate the influence of inherited polymorphisms of CDKN1B (rs2066827, rs34330), CDKN2C (rs12885) and CDKN2A (rs11515) genes in the pathogenesis of HMTC, we used TaqMan SNP genotyping to examine 138 HMTC patients. All patients were previously genotyped for RET gene and mutations are: 81 in codon 533 3 in codon 618 1 in codon 609 51 in codon 634 and two patients in codon 804.
A multivariate logistic regression analysis demonstrated that CDKN1B (34330) gene polymorphism inheritance was related to HMTC aggressiveness. Wild type (CC) rs34330 CDKN1B patients presented larger tumours (1.4±1.38 cm) than polymorphic (TT) patients (0.6±0.65 cm; P=0.044). In the same way, wild type (CC – 29.3±15.6 years) rs34330 CDKN1B gene patients are younger than heterozygous patients (CT – 42.1±18.2 years; P=0.029). We were unable to find any other association between the profile of the CDKN1B (rs2066827), CDKN2C (rs12885) and CDKN2A (rs11515) genes and patients’ clinical or pathological characteristics. This study is first to investigate the association of CDKN1B, CDKN2C and CDKN2A polymorphisms and the aggressiveness to HMTC and suggests that profiling cell cycle genes may help define the risk and characterize HMTC aggressiveness, hence identifying patients who could benefit of a closer follow-up.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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