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Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma
- Source :
- The Journal of clinical endocrinology and metabolism. 81(10)
- Publication Year :
- 1996
-
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 (approximately 25%) tumor DNA samples. Mutations were not identified in the remaining patients. In this large cancer center population, approximately 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.
- Subjects :
- medicine.medical_specialty
endocrine system diseases
Endocrinology, Diabetes and Metabolism
Clinical Biochemistry
Oncogene RET
Population
Multiple Endocrine Neoplasia Type 2a
RET proto-oncogene
Biology
medicine.disease_cause
Biochemistry
Polymerase Chain Reaction
Proto-Oncogene Mas
law.invention
Endocrinology
law
Internal medicine
Proto-Oncogene Proteins
Carcinoma
medicine
Drosophila Proteins
Humans
Thyroid Neoplasms
education
Codon
Polymerase chain reaction
DNA Primers
Mutation
education.field_of_study
Base Sequence
Biochemistry (medical)
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
DNA, Neoplasm
Exons
medicine.disease
Pedigree
Medullary carcinoma
Carcinoma, Medullary
Cancer research
Carcinogenesis
Subjects
Details
- ISSN :
- 0021972X
- Volume :
- 81
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Accession number :
- edsair.doi.dedup.....274306eacfafd4b84d5494d91240cdcb