diseases associated with defective tummor supressor genes Flashcards
What are the major clinical symptoms of von hippel lindau disease?
bilateral renal cell carcinomas
retinal hemangioblastoma
intracranial hemangioblastomas
pheochromocytomas
what is the cause of von hippel lindau disease?
result of mutated VHL gene on chromosome 3
normally functions as a tumor suppressor
Autosomal dominant
A 21-year-old female presents to the family physician with 3 weeks of headaches, sweating, and palpitations. Her BP was 160/125 mmHg, and a 24-hour urine test revealed elevated vanillymandelic acid (VMA) and normetanephrine. Past medical history is notable for bilateral retinal hemangioblastomas, and family history is significant for three generations (patient, mother, and maternal grandfather) with similar symptoms. Genetic analysis revealed a mutation of a gene on chromosome 3p. Which of the following is the patient at risk of developing? Topic Review Topic
- Clear cell renal cell carcinoma
- Retinoblastoma
- Osteosarcoma
- Breast cancer
- Ovarian cancer
The female has a history of bilateral retinal hemangioblastomas, is currently experiencing symptoms of a pheochromocytoma, and has a mutation on chromosome 3p suggesting a diagnosis of von Hippel-Lindau (VHL) disease. Patients with mutations in the VHL gene are at risk of developing clear cell renal cell carcinoma.
von Hippel-Lindau disease is a rare, autosomal dominant neurocutaneous disease that results in cavernous hemangiomas in the skin, mucosa, and viscera. It results from a mutated VHL gene on chromosome 3p, which normally acts as a tumor suppressor gene. VHL disease is associated with bilateral renal cell carcinomas, retinal and cranial/spinal hemangioblastomas, pheochromocytomas and cysts (pancreas, kidney, and reproductive tract). The hemangioblastomas are typically not cancerous, but they can compress the brain and spinal cord resulting in headaches, vomiting, paralysis, and ataxia.
Cancer/disease:
Colorectal cancer (associated with FAP) Melanoma Wilms' tumor Retinoblastoma and osteosarcoma Breast cancer Neurofibromatosis type 1 Breast and ovarian cancer Most human cancers and Li-Fraumeni syndrome Pancreatic cancer Colon cancer Neurofibromatosis type 2
Associated gene/chromasome:
APC 5 p16 9 WT1 11 Rb 13 BRCA2 13 NF1 17 BRCA1 17 p53 17 DPC 18 DCC 18 NF2 22
Colorectal cancer (associated with FAP)
APC 5
Melanoma
p16 9
Wilms’ tumor
WT1 11
osteosarcoma
Rb 13
Breast cancer
BRCA2 13
Neurofibromatosis type 1
NF1 17
Breast and ovarian cancer
BRCA1 17
Li-Fraumeni syndrome
p53 17
Pancreatic cancer
DPC 18
gene stands for deleted in pancreatic cancer
Colon cancer
DCC 18 (gene stands for deleted in colon cancer)
Neurofibromatosis type 2
NF2 22
