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The prevalence of somatic RAS mutations in medullary thyroid cancer - a Polish population study

Malgorzata Oczko-Wojciechowska1, Aleksandra Pfeifer, Dagmara Rusinek

  • 1Department of Nuclear Medicine and Endocrine Oncology Maria Sklodowska-Curie memorial Cancer Center and Institute of Oncology in Warsaw, Gliwice Branch. gosiaoczko@io.gliwice.pl.

Endokrynologia Polska
|May 2, 2015
PubMed
Abstract

Insights

RAS mutations are common in RET-negative sporadic medullary thyroid cancer (MTC) in Polish patients, occurring in 68.7% of these cases. Further research is needed to clarify the role of RAS mutations in MTC development.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Somatic RET mutations are found in approximately two-thirds of sporadic medullary thyroid cancer (MTC) cases.
  • RAS somatic mutations have been identified in RET-negative tumors, suggesting a potential alternative genetic pathway in MTC tumorigenesis.

Purpose of the Study:

  • To determine the frequency of somatic RAS mutations in sporadic MTC within the Polish population.
  • To investigate the relationship between RAS mutations and the presence of somatic RET mutations in MTC.

Main Methods:

  • Somatic mutations in RET and RAS genes were analyzed using direct sequencing in 78 MTC samples (57 sporadic, 21 hereditary).
  • Next-generation sequencing was performed on three randomly selected RET-negative MTC samples.

Main Results:

  • RAS mutations were detected in 26.5% of sporadic MTC tumors (49 analyzed).
  • In RET-negative sporadic MTC, RAS mutation prevalence was 68.7%, compared to 6% in RET-positive samples.
  • The majority of RAS mutations (72%) were found in H-RAS codon 61; no N-RAS mutations were observed. Hereditary MTC samples showed no RAS mutations.

Conclusions:

  • RAS mutations represent a frequent molecular event in RET-negative sporadic medullary thyroid carcinoma among Polish patients.
  • The precise role of RAS mutations in the development of medullary thyroid cancer requires further investigation.

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