Subject(s)
Adrenal Gland Neoplasms/diagnosis , Megacolon/diagnosis , Multiple Endocrine Neoplasia Type 2b/diagnosis , Thyroid Neoplasms/diagnosis , Abdominal Pain/etiology , Adrenal Gland Neoplasms/diagnostic imaging , Adrenal Gland Neoplasms/pathology , Adrenal Gland Neoplasms/surgery , Adult , Colectomy , Diagnosis, Differential , Humans , Male , Megacolon/complications , Megacolon/diagnostic imaging , Megacolon/surgery , Multiple Endocrine Neoplasia Type 2b/diagnostic imaging , Multiple Endocrine Neoplasia Type 2b/secondary , Multiple Endocrine Neoplasia Type 2b/surgery , Sigmoidoscopy , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/secondary , Thyroid Neoplasms/surgery , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Multiple endocrine neoplasia (MEN) IIb is a rare genetic syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma and mucosal neuromas. CASE REPORT: A 43-year-old woman with MEN IIb syndrome presented to our department with a painful enlargement of the left side of her vulva, which was initially presumed to be an inflammatory Bartholin's gland process. Upon admission, the patient was on antibiotics with no response and surgery was decided. A wide local excision was performed and histology revealed a metastatic medullary carcinoma of the vulva. CONCLUSION: MEN IIb syndrome is a clinical entity that may present multiple metastatic sites. To our knowledge, this is the first case of vulvar metastasis as part of the syndrome.
Subject(s)
Carcinoma, Medullary/secondary , Multiple Endocrine Neoplasia Type 2b/secondary , Thyroid Neoplasms/pathology , Vulvar Neoplasms/secondary , Adult , Carcinoma, Medullary/surgery , Female , Humans , Multiple Endocrine Neoplasia Type 2b/surgery , Vulvar Neoplasms/surgeryABSTRACT
Point mutations, deletions, and recombinations of the RET proto-oncogene are associated with several inherited human diseases of neural crest-derived cells: Hirschsprung's disease, familial medullary thyroid carcinoma, and the multiple endocrine neoplasia (MEN) syndromes, types 2A and 2B. RET expression is restricted to normal and malignant cells of neural crest origin, such as human neuroblastoma cells. To better understand the role of the activated RET oncogene in neural crest cells, we transfected two adherent human neuroblastoma tumor cell lines with oncogenic MEN2 mutant RET cDNAs. Transfectant clones from both cell lines overexpressing MEN2B RET demonstrated a marked increase in the cell fraction growing in suspension. Both control and MEN2B cells formed tumors at the site of injection in all cases. However, mice injected with MEN2B cells developed lung metastases at a much higher frequency than control mice. Only RET protein derived from MEN2A transfectant cells had increased autokinase activity, whereas MEN2B transfectant cells demonstrated selective activation of the mitogen-activated protein kinase, Jun kinase-1 (Jnk1). These results indicate a biochemical signaling pathway that may link oncogenic RET with the metastatic process.
