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27-bp deletion in the ret proto-oncogene as a somatic mutation associated with medullary thyroid carcinoma

V Kalinin1, A Frilling

  • 1Department for General Surgery, University Hospital Hamburg, Germany.

Journal of Molecular Medicine (Berlin, Germany)
|May 20, 1998
PubMed

Insights

This study identifies a novel 27-bp deletion in exon 10 of the RET proto-oncogene as a somatic mutation. This finding is associated with sporadic medullary thyroid carcinoma (MTC), offering new insights into MTC development.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Medullary thyroid carcinoma (MTC) arises sporadically or as part of inherited syndromes like multiple endocrine neoplasia (MEN) types 2A and 2B.
  • RET proto-oncogene mutations, particularly in exons 10 and 11, are common in familial MTC and MEN 2A.
  • Codon 918 mutations in exon 16 are prevalent in MEN 2B and also observed in sporadic MTC.

Purpose of the Study:

  • To report a newly identified somatic mutation in sporadic medullary thyroid carcinoma.
  • To characterize a specific genetic alteration in the RET proto-oncogene associated with MTC.

Main Methods:

  • Genetic analysis of tumor samples from patients with sporadic medullary thyroid carcinoma.
  • Identification and characterization of specific deletions within the RET proto-oncogene.

Main Results:

  • A 27-base pair deletion in exon 10 of the RET proto-oncogene was identified.
  • This deletion was found to be a somatic mutation associated with a sporadic MTC case.
  • This expands the spectrum of known RET mutations in sporadic MTC.

Conclusions:

  • The 27-bp deletion in RET exon 10 represents a novel somatic mutation contributing to sporadic medullary thyroid carcinoma.
  • Understanding these specific mutations aids in the diagnosis and potential therapeutic strategies for MTC.
  • Further research is warranted to explore the functional impact of this new mutation.

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