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Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma

Fabrício P Nascimento1, Mirian G Cardoso1, Susan C Lindsey1

  • 1Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039‑032, Brazil.

Molecular Medicine Reports
|January 1, 2016
PubMed

Insights

Medullary thyroid carcinoma (MTC) oncogenesis is not driven by BRAF, CDKN2A, or PI3KCA mutations. Novel HRAS mutations and CDKN2A polymorphisms were found, suggesting further investigation into their role in MTC development.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor arising from thyroid parafollicular cells.
  • Known genetic drivers include mutations in RET, HRAS, KRAS, and NRAS.
  • The involvement of other neural crest tumor oncogenesis genes in MTC requires further investigation.

Purpose of the Study:

  • To investigate somatic mutations in BRAF, CDKN2A, and PI3KCA in MTC.
  • To explore the correlation between these mutations and disease progression.
  • To identify potential novel genetic alterations in MTC.

Main Methods:

  • DNA isolation from paraffin-embedded MTC tumors and patient blood samples.
  • Sequencing of hotspot somatic mutations in BRAF, CDKN2A, and PI3KCA.
  • Analysis of genetic variations and their association with clinical data.

Main Results:

  • Two novel HRAS mutations (p.Asp33Asn and p.His94Tyr) were identified.
  • Polymorphisms in the 3' untranslated region (UTR) of CDKN2A (rs11515 and rs3088440) were detected.
  • No somatic mutations were found in BRAF, CDKN2A, or PI3KCA in the studied MTC cohort.

Conclusions:

  • Somatic point mutations in BRAF, CDKN2A, and PI3KCA do not appear to be major drivers of MTC oncogenesis.
  • The identified HRAS mutations and CDKN2A 3'UTR polymorphisms warrant further research for their specific roles in MTC.
  • Additional studies are needed to elucidate the contribution of CDKN2A polymorphisms to MTC development.

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