diseases associated with defective tummor supressor genes Flashcards Preview

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Flashcards in diseases associated with defective tummor supressor genes Deck (15):
1

What are the major clinical symptoms of von hippel lindau disease?

bilateral renal cell carcinomas
retinal hemangioblastoma
intracranial hemangioblastomas
pheochromocytomas

2

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

3

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

1. Clear cell renal cell carcinoma
2. Retinoblastoma
3. Osteosarcoma
4. Breast cancer
5. 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.

4

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

5

Colorectal cancer (associated with FAP)

APC 5

6

Melanoma

p16 9

7

Wilms' tumor

WT1 11

8

osteosarcoma

Rb 13

9

Breast cancer

BRCA2 13

10

Neurofibromatosis type 1

NF1 17

11

Breast and ovarian cancer

BRCA1 17

12

Li-Fraumeni syndrome

p53 17

13

Pancreatic cancer

DPC 18

(gene stands for deleted in pancreatic cancer)

14

Colon cancer

DCC 18
(gene stands for deleted in colon cancer)

15

Neurofibromatosis type 2

NF2 22

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