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Multiple endocrine neoplasia type IIb: a clinicopathological report
J A Van Zyl1, G S Muller, D J Rossouw
1Department of Surgery, University of Stellenbosch Medical School, Cape Town, Republic of South Africa.
Journal of Surgical Oncology
|December 1, 1990
Summary
Multiple endocrine neoplasia type IIb (MEN-IIb) in a boy presented with Marfanoid habitus and mucosal neuromas. Early total thyroidectomy is crucial for preventing medullary thyroid carcinoma (MCT) in MEN-IIb patients.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type IIb (MEN-IIb) is a rare genetic disorder.
- It is characterized by a specific constellation of clinical features and a high risk of medullary thyroid carcinoma (MCT).
Observation:
- A 12-year-old boy with MEN-IIb presented with Marfanoid habitus and mucosal neuromas.
- He had an enlarged thyroid with elevated serum calcitonin levels, indicative of MCT.
Findings:
- Histopathological examination confirmed infiltrating medullary thyroid carcinoma with lymph node metastasis.
- Tumor cells were calcitonin-positive and thyroglobulin-negative.
- Mucosal neuromas were composed of proliferating perineurial and Schwann cells.
Implications:
- The near 100% incidence of MCT in MEN-IIb underscores the importance of proactive management.
- Total thyroidectomy, even before clinical manifestation of malignancy, may offer the only chance for cure in high-risk individuals.