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Germline mutation of RET codon 883 in two cases of de novo MEN 2B
D P Smith1, C Houghton, B A Ponder
1University of Cambridge, Department of Pathology, UK.
Abstract:
Germline mutations in the RET proto-oncogene are seen in the majority of patients with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2 (MEN 2). The clinical subtypes of MEN 2 (MEN 2A, MEN 2B and familial MTC) all have medullary thyroid carcinoma, but vary in the involvement of pheochromocytoma, parathyroid adenoma/hyperplasia and developmental abnormalities. A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities). Here we report the identification of a new germline RET mutation (A883F) in two de novo cases of MEN 2B. Identification of this new mutation will contribute to understanding the molecular basis of MEN 2B, and will assist in the clinical management of families harbouring this mutation.
Insights
A new germline RET mutation, A883F, was identified in two de novo cases of multiple endocrine neoplasia type 2B (MEN 2B). This discovery advances understanding of MEN 2B
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Multiple endocrine neoplasia type 2 (MEN 2) are inherited cancer syndromes caused by germline mutations in the RET proto-oncogene.
- MEN 2 subtypes (MEN 2A, MEN 2B, familial medullary thyroid carcinoma) share medullary thyroid carcinoma but differ in other clinical features.
Observation:
- The M918T RET mutation is found in 94% of MEN 2B cases, characterized by medullary thyroid carcinoma, pheochromocytoma, and developmental abnormalities.
- Two de novo cases of MEN 2B were identified with a novel germline RET mutation, A883F.
Findings:
- Identification of the A883F germline RET mutation in MEN 2B.
- This mutation was found in two unrelated individuals with de novo MEN 2B.
Implications:
- The discovery of A883F enhances the understanding of the molecular basis of MEN 2B.
- This finding aids in the clinical management and genetic counseling of families affected by MEN 2B.