Info

🌱 來自: Multiple Endocrine Neoplasia

multiple endocrine neoplasia type 1

(MENIN inactiv.)

• Parathyroid adenoma (90%)
  • 副甲: Parathyroid hyperplasia/adenomas → hypercalcemia (~100% penetrance)
• Enteropancreatic tumor (30-70%)
  • Pancreatic islet cell neoplasia (gastrin, VIP, insulin, glucagon)
  • Gastrinoma (>50%)
  • Insulinoma (10-30%)
  • Nonfunctioning and PPoma (20-55%)
  • Glucagonoma (<3%)
  • 👉 Zollinger-Ellison
  • VIPoma (<1%)
• Pituitary adenoma (15-50%)
  • Prolactinoma (60%)
  • Somatotrophinoma (25%)
  • Corticotrophinoma (<5%)
  • Nonfunctioning (<5%)
• Associated tumors
  • Adrenal cortical tumor (20-70%)
  • Pheochromocytoma (<1%)
  • Bronchopulmonary NET (2%)
  • Thymic NET (2%)
  • Gastric NET (10%)
  • Lipomas (>33%)
  • Angiofibromas (85%)
  • Collagenomas (70%)
  • Meningiomas (8%)

Gene

MEN1

• 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%)
• Intron 4 ss (≈10%)