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Spontaneous Murine Model of Anaplastic Thyroid Cancer
05:39

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to

A Boichard1, L Croux, A Al Ghuzlan

  • 1Institut Gustave Roussy, Translational Research Laboratory, 114 Rue Édouard Vaillant, 94805 Villejuif, France.

The Journal of Clinical Endocrinology and Metabolism
|August 7, 2012
PubMed
Abstract

Insights

RAS mutations are common in sporadic medullary thyroid carcinoma (MTC), occurring independently of RET mutations. Analysis should include exon 4 of RAS genes, not just hot spots.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Medullary thyroid carcinoma (MTC) often involves RET proto-oncogene mutations.
  • RAS mutations are increasingly recognized as significant in sporadic MTC tumorigenesis.

Purpose of the Study:

  • To investigate the frequency and spectrum of RET, BRAF, and RAS mutations in MTC.
  • To determine the role of RAS mutations in sporadic MTC lacking RET alterations.

Main Methods:

  • Direct sequencing of RET, BRAF, KRAS, HRAS, and NRAS genes in 50 MTC samples.
  • Analysis included exons 2, 3, and 4 for RAS genes, and specific exons for RET and BRAF.

Main Results:

  • RET mutations were found in hereditary and sporadic MTC cases.
  • RAS mutations (HRAS, KRAS) were identified in 13 of 16 sporadic MTCs without RET mutations.
  • RAS and RET mutations were mutually exclusive; no BRAF or NRAS mutations were detected.

Conclusions:

  • RAS mutations are frequent in sporadic MTC and represent an alternative oncogenic pathway.
  • Comprehensive RAS mutation analysis, including exon 4, is crucial for sporadic MTC diagnosis.

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