Rare Endocrine Tumors Flashcards
MC etiology in MEN1
Familial= 90%
Name the gene mutation in MEN1
LOSS of menin tumor suppressor protein
When is it considered that you have the DISEASE in MEN1
2nd hit
List the MC tumors in MEN1
- Parathyroid Hyperplasia
- Pancreatic Tumors
- Pituitary tumors
+ Non-hormonal tumors
List the Non-hormonal/Non-classical tumors in MEN1
- Dermal tumors: Facial angiofibromas, collagenoma
- Lipomas
- Smooth muscle tumors: Esophageal, uterine, and ureteral leiomyomas
Carcinoid Syndrome
- Flushing
- Sweating
- Diarreha
- Wheezing
- Right sided valvular dz
What causes Carcinoid syndrome?
Tumor secretion of serotonin and vasoactive peptides (histamine, tachykinins, kvllikrein, PG’s)
Lab/Diagnostics finding in Carcinoid Syndrome?
5-HIAA: Serotonin Metabolite
Define Zollinger-Ellison syndrome. Etiology?
Gastrinoma
- Abdominal pain: Peptic ulcer dz, GERD
- Diarrhea
Diagnostic findings in gastronomas
- Elevated gastrin, decreased stomach pH
2. Secretin Test: Gastrin rises
Insulinoma clinical presentation
Whipple’s Triad:
- Fasting Hypoglycemia: <70
- Neuroglycopenic sx’s (<50): Confusion, HA, Blurred vision, sx’s, coma
- Improvement after glucose replacement
Insulinoma Lab findings
Increased: Insulin, C-Peptide, and Pro-Insulin
What imaging would you use to localize insulinoma?
Endoscopic US
List the arteries that supply the pancreas and the study that measures the insulin levels
Calcium Stimulated Arteriogram:
- Splenic artery: Pancreatic body
- Gastroduodenal artery: Head of pancreas
- Superior mesenteric artery: Uncinate
Insulinoma surgical treatment
- Open> laparoscopic
2. Enucleation: Small benign tumors
Dietary treatment in insulinomas
Small carb meals
Avoid prolonged fasting
Pharmacological treatment in insulinomas
- Diazoxide: Supres insulin secretion
2. Ocreotide: Somatostatin Analog/GH antagonist- Inhibits Insulin
Diazoxide CI. Why?
CHF
D/t edema, wt. gain side effects
MEN Type2 gene mutation
Autosomal dominant mutation
RET Proto Oncogene
What conditions do both MEN Type2A and Type2B have?
- Medullary thyroid CA
2. Pheochromocytoma
What condition is specific to MEN Type 2A?
Hyperparathyroidism
What condition(s) is specific to MEN Type 2B?
- Multiple neuromas (tongue)
2. Marfanoid Habitus
Gene mutation in Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT)
Inactivation of mutation of CDC73/HRPT2 Tumor Suppressor Gene
What are people with HPT-JT at an increased risk for?
Parathyroid CA= 15%
