All are associated with MEN-2 except:
Correct Answer: Islet cell hyperplasia
Description: Type (Chromosomal Location) Tumors (Estimated Penetrance) Gene and Most Frequently Mutated Codons MEN 1 (11q13) Parathyroid adenoma (90%) Enteropancreatic tumor (30-70%) Gastrinoma (>50%) Insulinoma (10-30% Nonfunctioning and PPoma (20-55%) Glucagonoma (<3%) VIPoma (<1%) Pituitary adenoma (15-50%) Prolactinoma (60%) Somatotrophinoma (25%) Coicotropinoma (<5%) Nonfunctioning (<5%) Associated tumors Adrenal coical tumor (20-70%) Pheochromocytoma (<1%) Bronchopulmonary NET (2%) Thymic NET (2%) Gastric NET (10%) Lipomas (>33%) Angiofibromas (58%) Collagenomas (70%) Meningiomas (8%) MEN 1 83/84, 4-bp del ([?]4%) 119, 3-bp del ([?]3%) 209-211, 4-bp del ([?]8%) 418, 3-bp del ([?]4%) 514-516, del or ins ([?]7%) Intro 4 ss ([?]10%) MEN 2 (10 cen-10q 11.2) MEN 2A MTC (90%)Pheochromocytoma (>50%) Parathyroid adenoma (10-25%) RET 634, e.g., Cys - Arg (~85%) MTC only MTC (100%) RET 618, missense (>50%) MEN 2B (also known as MEN 3) MTC (>90%) Pheochromocytoma (>50%) Associated abnormalities (40-50%) Mucosal neuromas Marfanoid habitus Medullated corneal nerve fibers Megacolon RET 918, Met - Thr (>95%) MEN 4 (12p 13) Parathyroid adenoma Pituitary adenoma Reproductive organ tumors (e.g., testicular cancer, neuroendocrine cervical carcinoma)? Adrenal + renal tumors CDKN 1B; no common mutations identified to date
Category:
Pathology
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