Term
| Multiple endocrine neoplasia, type 2A (MEN-2A) |
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Definition
Gene: RET
Affects:
Medullary THYROID Carcinoma
PARATHYROID hyperplasia
Associated Lesion:
Pheochromocytoma |
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Term
| Multiple endocrine neoplasia, type 2B(MEN-2B) |
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Definition
Gene: RET
Affects:
Medullary THYROID carcinoma
Marfinoid Habitus - LONG LIMBS
Mucocutaneous Ganglioneroma
Associated Lesion:
Pheochromocytoma |
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Term
Neurofibromatosis, type 1
aka
von Recklinghausen disease |
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Definition
Gene: NF1
Affects:
Neurofibromatosis
Café-au-lait spots
Optic Nerve Glioma
Associated Lesion:
Pheochromocytoma |
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Term
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Definition
Gene: VHL
Affects:
RENAL Cell Carcinoma
PANCREATIC endocrine neoplasm
Hemangioblastoma - tumors in CNS from vascular system
Associated Lesion:
Pheochromocytoma, paraganglioma(uncommon) |
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Term
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Definition
Gene: SDHD
succinate dehydrogenase complex, subunit D
Associated Lesion:
Pheochromocytoma, paraganglioma |
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Term
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Definition
Gene: SDHC
succinate dehydrogenase complex, subunit C
Associated Lesion:
Paraganglioma |
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Term
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Definition
Gene: SDHB
succinate dehydrogenase complex, subunit B
Associated Lesion:
Pheochromocytoma, paraganglioma |
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Term
| Crigler-Najjar syndrome type I |
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Definition
UNCONJUGATED HYPERBILIRUBINEMIA
Autosomal recessive -
Absent UGT1A1 activity
Fatal in neonatal period |
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Term
| Crigler-Najjar syndrome type II |
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Definition
UNCONJUGATED HYPERBILIRUBINEMIA
Autosomal dominant with variable penetrance
DECREASED UGT1A1
Generally mild, occasional Kernicterus |
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Term
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Definition
UNCONJUGATED HYPERBILIRUBINEMIA
Autosomal Recessive
Decreased UGT1A1
Innocous |
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Term
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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) |
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Term
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Definition
CONJUGATED HYPERBILIRUBINEMIA
Autosomal Recessive
Decreased hepatic uptake and storage?
Decreased biliary excretion? |
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Term
| Pancreatic Tumor Suppressor Genes Mutated |
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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 |
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Term
| Hereditary breast and ovarian cancer |
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Definition
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Term
| Familial atypical multiple-mole melanoma syndrome |
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Definition
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Term
| Strong family history (3 or more relatives with pancreatic cancer) |
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Definition
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Term
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Definition
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Term
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Definition
Meat and Milk
Colon
Arthritis and Guillen Barre |
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Term
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Definition
Fecal Oral
SI
Dehydrate NO BLOOD |
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Term
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Definition
Meat and Milk
Colon/SI
Sepsis and Abcess |
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Term
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Definition
Fecal Oral
L Colon and Ileium
Reiter and hemolytic uremia |
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Term
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Definition
Fecal Oral
SI
Chronic infection, encephalopathy, myocarditis |
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Term
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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. |
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Term
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Definition
| A volvulus is a bowel obstruction with a loop of bowel that has abnormally twisted on itself. |
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Term
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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 |
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Term
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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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