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Endocrine Memorize
GEnes pheochromocytoma
26
Science
Graduate
04/11/2012

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Term
Multiple endocrine neoplasia, type 2A (MEN-2A)
Definition
Gene: RET

Affects:
Medullary THYROID Carcinoma
PARATHYROID hyperplasia

Associated Lesion:
Pheochromocytoma
Term
Multiple endocrine neoplasia, type 2B(MEN-2B)
Definition
Gene: RET

Affects:
Medullary THYROID carcinoma
Marfinoid Habitus - LONG LIMBS
Mucocutaneous Ganglioneroma

Associated Lesion:
Pheochromocytoma
Term
Neurofibromatosis, type 1
aka
von Recklinghausen disease
Definition
Gene: NF1

Affects:
Neurofibromatosis
Café-au-lait spots
Optic Nerve Glioma

Associated Lesion:
Pheochromocytoma
Term
Von Hippel-Lindau
Definition
Gene: VHL

Affects:
RENAL Cell Carcinoma
PANCREATIC endocrine neoplasm
Hemangioblastoma - tumors in CNS from vascular system

Associated Lesion:
Pheochromocytoma, paraganglioma(uncommon)
Term
Familial paraganglioma 1
Definition
Gene: SDHD
succinate dehydrogenase complex, subunit D

Associated Lesion:
Pheochromocytoma, paraganglioma
Term
Familial paraganglioma 3
Definition
Gene: SDHC
succinate dehydrogenase complex, subunit C

Associated Lesion:
Paraganglioma
Term
Familial paraganglioma 4
Definition
Gene: SDHB
succinate dehydrogenase complex, subunit B

Associated Lesion:
Pheochromocytoma, paraganglioma
Term
Crigler-Najjar syndrome type I
Definition
UNCONJUGATED HYPERBILIRUBINEMIA

Autosomal recessive -

Absent UGT1A1 activity

Fatal in neonatal period
Term
Crigler-Najjar syndrome type II
Definition
UNCONJUGATED HYPERBILIRUBINEMIA

Autosomal dominant with variable penetrance

DECREASED UGT1A1

Generally mild, occasional Kernicterus
Term
Gilbert syndrome
Definition
UNCONJUGATED HYPERBILIRUBINEMIA

Autosomal Recessive

Decreased UGT1A1

Innocous
Term
Dubin-Johnson syndrome
Definition
CONJUGATED HYPERBILIRUBINEMIA

LIVER PATHOLOGY: Pigmented cytopasmic globules; ?epinephrine metabolites

Autosomal Recessive

Impaired biliary excretion of bilirubin glucuronides due to mutation in canalicular multidrug resistance protein 2 (MRP2)
Term
Rotor syndrome
Definition
CONJUGATED HYPERBILIRUBINEMIA

Autosomal Recessive


Decreased hepatic uptake and storage?
Decreased biliary excretion?
Term
Pancreatic Tumor Suppressor Genes Mutated
Definition
p16/CDKN2A(CHROMOSOME 9p) : MOST FREQUENTLY SUPRESSED 95%

kRAS (Chromosome 12p) Inactive in 90%

SMAD4(Chromosome 18q) - inactivated in 55% of pancreatic cancer. plays an important role in signal transduction from the TGF-β family of cell surface receptors

p53(Chromosome 17p)is seen in 50-70% of cancers
Term
Hereditary breast and ovarian cancer
Definition
BRCA2 (13q12–q13)
Term
Familial atypical multiple-mole melanoma syndrome
Definition
p16/CDKN2A (9p21)
Term
Strong family history (3 or more relatives with pancreatic cancer)
Definition
Unknown
Term
Hereditary pancreatitis
Definition
PRSS1 (7q35) andSPINK1
Term
Camplobacter
Definition
Meat and Milk

Colon

Arthritis and Guillen Barre
Term
Cholera
Definition
Fecal Oral

SI

Dehydrate NO BLOOD
Term
Salmonella
Definition
Meat and Milk

Colon/SI

Sepsis and Abcess
Term
Shigella
Definition
Fecal Oral

L Colon and Ileium

Reiter and hemolytic uremia
Term
Enteric Typhoid
Definition
Fecal Oral

SI

Chronic infection, encephalopathy, myocarditis
Term
intussusception
Definition
part of the intestine has invaginated into another section of intestine, similar to the way in which the parts of a collapsible telescope slide into one another.[1] This can often result in an obstruction. The part that prolapses into the other is called the intussusceptum, and the part that receives it is called the intussuscipiens.
Term
volvulus
Definition
A volvulus is a bowel obstruction with a loop of bowel that has abnormally twisted on itself.
Term
Juvenile Polyps
Definition
SMAD4/BMPR1A

Autosomal Dominant associated with increased risk of colon, gastric, SI and pancreatic adenocarcinoma

Occurs at age < 5

Pulmonary Arteriorvenous malformations and digital clubbing
Term
Peutz- Jeghers Syndrome
Definition
LKB1/STK11

Age Presents 10-15

Autosomal Dominant

Brown macules, polyps.

Increased risk of cancer in colon, pancreas, breast, lung, ovary, uterus, and testicles.

Most common in SI and are pedunculated

Arise with hamartomous polyps and are not preneoplastic precursor lesions.
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