Multiple endocrine neoplasia type 2 diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

According to the American Society of Clinical Oncology, diagnosis of multiple endocrine neoplasia type 2 requires existence of two or more specific endocrine tumors (medullary thyroid carcinoma, pheochromocytoma, or parathyroid hyperplasia). Multiple endocrine neoplasia type 2 is also diagnosed with four or more cases of medullary thyroid carcinoma without pheochromocytoma and parathyroid adenoma or if there is early onset of medullary thyroid carcinoma, mucosal neuromas of lips and tongue, disctinctive facial features with enlarged lips and marfanoid body habitus.

The current clinical criteria for detecting Multiple endocrine neoplasia type 2 is as follows:^[1]^[2]^[3]

Clinical criteria for diagnosis of Multiple endocrine neoplasia type 2
Two or more specific endocrine tumors (medullary thyroid carcinoma, pheochromocytoma or parathyroid hyperplasia)
Familial medullary thyroid carcinoma is diagnosed in families with four or more cases of medullary thyroid carcinoma without pheochromocytoma and parathyroid adenoma
Multiple endocrine neoplasia type 2b is diagnosed if there is early onset of medullary thyroid carcinoma, mucosal neuromas of lips and tongue, disctinctive facial features with enlarged lips and marfanoid body habitus

↑ "Genetics-University of Washington, Seattle".
↑ Haruhiro Sato, Yasuhiro Suzuki, Maki Fukasawa, Masanori Yasuda & Robert Yoshiyuki Osamura (2006). "De novo multiple endocrine neoplasia type 2B with noncardiogenic pulmonary edema as the presenting symptom". Endocrine journal. 53 (4): 523–529. PMID 16829704. Unknown parameter |month= ignored (help)
↑ Romei, C.; Pardi, E.; Cetani, F.; Elisei, R. (2012). "Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2". Journal of Oncology. 2012: 1–15. doi:10.1155/2012/705036. ISSN 1687-8450.