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Medullary thyroid carcinoma: recent advances and management update
D J Marsh1, D L Learoyd, B G Robinson
1Molecular Genetics Unit, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, Australia.
Thyroid : Official Journal of the American Thyroid Association
|October 1, 1995
Summary
Medullary thyroid carcinoma (MTC) screening now involves genetic testing for RET protooncogene mutations, aiding in diagnosing hereditary forms like MEN 2A and MEN 2B. Early detection and surgical management are key for this rare thyroid cancer.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy originating from C-cells, accounting for 5-10% of thyroid cancers.
- MTC presents in sporadic and familial forms, with familial cases linked to multiple endocrine neoplasia types 2A and 2B (MEN 2A, MEN 2B) and familial MTC (FMTC).
- Current screening relies on the pentagastrin stimulation test for calcitonin release, but genetic screening for RET protooncogene mutations is increasingly vital.
Purpose of the Study:
- To review the clinical management and genetic basis of medullary thyroid carcinoma.
- To highlight the role of RET protooncogene mutations in hereditary MTC syndromes.
- To discuss current and emerging diagnostic and therapeutic strategies for MTC.
Main Methods:
- Review of literature on MTC genetics, diagnosis, and treatment.
- Analysis of RET protooncogene mutation patterns in different MTC syndromes.
- Discussion of surgical and adjuvant treatment modalities.
Main Results:
- Germline RET protooncogene mutations are identified in familial MTC syndromes (MEN 2A, MEN 2B, FMTC).
- Mutations in MEN 2A and FMTC cluster in the RET receptor's cysteine-rich region; MEN 2B mutations are in the tyrosine kinase domain.
- Somatic mutations in sporadic MTC may help differentiate hereditary from sporadic forms.
Conclusions:
- Genetic screening of RET protooncogene mutations is crucial for managing individuals at risk of hereditary MTC.
- Total thyroidectomy and central neck lymph node clearance are standard primary surgical treatments for MTC.
- While palliative options exist, curative treatments beyond surgery are limited, and prognostic factors require further evaluation.