Multiple endocrine neoplasia type IIb: a clinicopathological report.
The clinicopathological findings in a 12-year-old boy with multiple endocrine neoplasia type IIb (MEN-IIb) are presented. He demonstrated the characteristics of a Marfanoid habitus and had mucosal neuromas of the lips, tongue, eyelids, and cornea. The enlarged right thyroid lobe showed an increased thallium-201 chloride uptake, and the serum calcitonin level was markedly raised. A total thyroidectomy was performed. Histopathological examination showed an infiltrating medullary carcinoma of the thyroid (MCT) and metastatic spread to supraclavicular lymph nodes. Special stains, immunocytochemistry, and electron microscopy revealed mucin-containing follicular structures lined by calcitonin-positive and thyroglobulin-negative tumour cells. Ultrastructurally the mucosal neuromas consisted of proliferating perineurial and Schwann cells. The serum calcitonin level fell below 300 pmol/L, and his stools returned to normal postoperatively. Because the incidence of MCT in MEN-IIb is virtually 100%, a total thyroidectomy in high risk patients--even before clinical evidence of malignant tumours--may be the only hope of cure.
Van Zyl
J A
JA
Department of Surgery, University of Stellenbosch Medical School, Cape Town, Republic of South Africa.
Muller
G S
GS
Rossouw
D J
DJ
Van Velden
D J
DJ
D002648:Child; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy