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Presented by Ralph Hruban, M.D. and prepared by Lynette S. Nichols, M.D.
Case 5: This 29 year old woman had a family history of cancer.
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1. Question
Week 110: Case 5
This 29 year old woman had a family history of cancer./images/Lyn’s/10-14-hruban-5.a.jpg
/images/Lyn’s/10-14-hruban-5.b.jpg
/images/Lyn’s/10-14-hruban-5.c.jpgCorrect
Answer: Medullary carcinoma with c-cell hyperplasia
Histology: Numerous lesions are present. The largest has the typical characteristic appearance of a medullary carcinoma of the thyroid. In addition, scattered throughout the gland are numerous smaller collections of similar appearing cells representing c-cell hyperplasia.
Discussion: This patient has the MEN2 syndrome. MEN2 includes medullary carcinoma of the thyroid, pheochromocytoma of the adrenals and parathyroid hyperplasia/adenomas. MEN2 is caused by germline (inherited) mutations in the ret (receptor tyrosine kinase) gene on chromosome 10q11.2. These mutations constitutively activate the enzyme. Medullary carcinomas typically grow in nests, trabeculae or in sheets. The cells are large, with abundant eosinophilic or amphophilic granular cytoplasm. The neoplastic cells are immunoreactive with antibodies to calcitonin.
Incorrect
Answer: Medullary carcinoma with c-cell hyperplasia
Histology: Numerous lesions are present. The largest has the typical characteristic appearance of a medullary carcinoma of the thyroid. In addition, scattered throughout the gland are numerous smaller collections of similar appearing cells representing c-cell hyperplasia.
Discussion: This patient has the MEN2 syndrome. MEN2 includes medullary carcinoma of the thyroid, pheochromocytoma of the adrenals and parathyroid hyperplasia/adenomas. MEN2 is caused by germline (inherited) mutations in the ret (receptor tyrosine kinase) gene on chromosome 10q11.2. These mutations constitutively activate the enzyme. Medullary carcinomas typically grow in nests, trabeculae or in sheets. The cells are large, with abundant eosinophilic or amphophilic granular cytoplasm. The neoplastic cells are immunoreactive with antibodies to calcitonin.
