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18 Cards in this Set

  • Front
  • Back
- MALIGNANT catecholamine-producing tumor of early childhood
- urinary catecholamaines and metabolites are same as those seen in pheochromocytoma
- causes hypertension
- origicantes in adrenal medulla and presents as abdominal mass
describe the genetics behind neuroblastoma
- occasionally converts into more differentiated "ganglioneuroma"
- tumor is characterized by amplification of N-myc oncogene with thousands of copies per cell
- malignant cells sometimes differentiate into benign cells (seen as a reduction in gene amplification)
describe the N-myc gene seen in neuroblastoma
- thousands of copies of N-myc in a cell
- amplification results in karyotypic changes (homogeneously staining regions or double minute chr)
- number of N-myc genes correlates to the aggressiveness of the tumor
list the endocrine tumors (islet cell tumors)
1. Insulinoma (beta cell tumor)
2. Gastrinoma
3. Glucagonoma (alpha cell tumor)
insulinoma (beta cell tumor)
- most common islet tumor
- can be either benign or malignant
- greatly increased insulin secretion
- increased C-peptide levels
- see Whipple triad
how do you differentiate endogenous insulin from exogenous insulin administration?
- look for levels of C-peptide
- C peptide is broken off from the pre-insulin molecule during the synthesis of insulin
- high C-peptide is increased in patients with insulinoma
- not seen in the bolus given with commercial insulin
Whipple triad
1. episodic hyperinsulinemia and hypoglycemia
2. CNS dysfunction related to hypoglycemia (confusion, anxiety, stupor, convulsions, coma)
3. reversal of CNS symptoms with glucose administration
what CNS changes do you see with hypoglycemia?
- confusion
- anxiety
- stupor
- convulsions
- coma
- a type of islet cell tumor
- often malignant
- can occur in extrapancreatic sites
- results in gastrin hypersecretion and hypergastrinemia
- associated with Zollinger-Ellison syndrome
Zollinger-Ellison syndrome
- gastric hypersecretion of HCl
- recurrent peptic ulcer disease
- hypergastrinemia
Glucagonoma (alpha cell tumor)
- rare islet cell tumor
- results in secondary DM
- causes skin lesion called necrolytic migratory erythema
when do you see necrolytic migratory erythema?
a classical symptom observed in patients with glucagonoma and is present in 80% of cases. Associated NME is characterized by the spread of erythematous blisters and swelling across areas subject to greater friction and pressure, including the lower abdomen, buttocks, perineum, and groin.
- rare islet cell tumor
- tumor that secretes vasoactive intestinal peptide (VIP)
- assocatied with the WDHA syndrome: Watery Diarrhea, Hypokalemia, and Achlorhydria
WDHA syndrome (Verner-Morrison sydrome)
- aka pancreatic cholera
- Watery Diarrhea, Hypokalemia, Achlorhydria
- seen in VIPoma (an islet cell tumor)
Multiple Endocrine Neoplasia (MEN) Syndromes
- autosomal dominant
- more than one endocrine organ is HYPERfunctional
- may be associated with hyperplasias or tumors
1. MEN I (Wermer syndrome)
2. MEN IIa (Sipple syndrome)
MEN I (Wermer syndrome)
- hyperplasias or tumors of the PITUITARY, PARATHYROID, or PANCREATIC islets
- can also include hyperplasias of the thyroid or adrenal cortex
- pancreatic component can manifest as: Zollinger- Ellison syndrome, hyperinsulinism, pancreatic cholera
- linked to mutations in the MEN I gene
MEN IIa (Sipple sydrome)
- pheyochromocytoma, medullary carcinoma of the thyroid, and hyperparathyroidism from hyperplasia or tumor
- linked to mutations in the ret oncogene
- pheochromocytoma, medullayr carcinoma, and multiple mucocutaenous neuromas or ganglioneuromas
- does NOT include hyperparathyroidism (like MEN IIa)
- linked to mutations in the ret oncogene (not the same ones as MEN IIa)