Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma

Nelson Wohllk, Gilbert J. Cote, Maria M J Bugalho, Nelson Ordonez, Douglas B. Evans, Helmuth Goepfert, Sangeeta Khorana, Pamela Schultz, Carolyn (Sue) Richards, Robert F. Gagel

Research output: Contribution to journalArticle

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Abstract

Analysis of peripheral blood or tumor DNA samples from 101 patients with apparent sporadic medullary thyroid carcinoma (MTC) was performed to assess the frequency of RET proto-oncogene mutations in this patient population. Peripheral blood and/or tumor DNA was amplified by polymerase chain reaction. DNA sequence or restriction enzyme analysis was performed to detect mutations of RET proto-oncogene codons 609, 611, 618, 620, 634, 768, and 918. Six of 101 patients with apparent sporadic MTC had peripheral blood DNA mutations more commonly associated with hereditary MTC. In 4 patients, these mutations led to the identification of previously unrecognized kindreds. The remaining 2 patients were examples of de novo mutations. A codon 918 mutation was found in 14 of 57 (~25%) tumor DNA samples. Mutations were not identified in the remaining patients. In this large cancer center population, ~6%, of patients with sporadic MTC carry peripheral blood DNA mutations, either inherited or de novo, more commonly associated with MEN 2A or familial MTC. Seven additional gene carriers were identified as a direct result of these studies, a 2 fold multiplying effect. We conclude routine application of RET proto- oncogene testing should be included in all cases of apparent sporadic MTC.

Original languageEnglish (US)
Pages (from-to)3740-3745
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume81
Issue number10
DOIs
StatePublished - 1996
Externally publishedYes

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Proto-Oncogenes
Blood
Mutation
DNA
Tumors
Codon
Polymerase chain reaction
DNA sequences
Neoplasms
Multiple Endocrine Neoplasia Type 2a
Restriction Mapping
Genes
Medullary Thyroid cancer
Population
Testing
Enzymes
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Wohllk, N., Cote, G. J., Bugalho, M. M. J., Ordonez, N., Evans, D. B., Goepfert, H., ... Gagel, R. F. (1996). Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism, 81(10), 3740-3745. https://doi.org/10.1210/jc.81.10.3740

Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. / Wohllk, Nelson; Cote, Gilbert J.; Bugalho, Maria M J; Ordonez, Nelson; Evans, Douglas B.; Goepfert, Helmuth; Khorana, Sangeeta; Schultz, Pamela; Richards, Carolyn (Sue); Gagel, Robert F.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 81, No. 10, 1996, p. 3740-3745.

Research output: Contribution to journalArticle

Wohllk, N, Cote, GJ, Bugalho, MMJ, Ordonez, N, Evans, DB, Goepfert, H, Khorana, S, Schultz, P, Richards, CS & Gagel, RF 1996, 'Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma', Journal of Clinical Endocrinology and Metabolism, vol. 81, no. 10, pp. 3740-3745. https://doi.org/10.1210/jc.81.10.3740
Wohllk, Nelson ; Cote, Gilbert J. ; Bugalho, Maria M J ; Ordonez, Nelson ; Evans, Douglas B. ; Goepfert, Helmuth ; Khorana, Sangeeta ; Schultz, Pamela ; Richards, Carolyn (Sue) ; Gagel, Robert F. / Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. In: Journal of Clinical Endocrinology and Metabolism. 1996 ; Vol. 81, No. 10. pp. 3740-3745.
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