Cancer syndromes Flashcards
1
Q
Familial Adenomatous Polyposis
A
- APC mutation of 5q22 (also an example of 2 hit hypothesis)
- Thousands of polyps early
- Pancolonic but rectum always involved
- Prophylactic colectomy always
2
Q
Gardner syndrome
A
FAP + bone tumors
3
Q
Turcot syndrome
A
FAP or Lynch syndrome + CNS tumors
4
Q
Peutz-Jeghers syndrome
A
Hamartomas + hyperpigmented macules on lips, mouth, genitals; incr. risk of GI + breast cancer
5
Q
Juvenile polyposis syndrome
A
Hamartomas in colon, small intestine, stomach; incr. risk of CRC
6
Q
Lynch syndrome
A
aka HNPCC:
- mutation in DNA mismatch repair genes (MLH1, MSH2) –> microsatellite instability
- Proximal colon predilection
- 80% progress to CRC, also associated with ovarian, endometrial, skin cancers
7
Q
Li Fraumeni Syndrome
A
- Brain, Breast, Adrenocortical tumors, Sarcomas + Leukemias
- Dominant mutation in TP53 tumor suppressor gene (2 hit hypothesis)
8
Q
MEN 1
A
- Parathyroid adenomas
- Pancreatic endocrine tumors (ZES, VIPoma)
- Pituitary tumors (prolactin or GH)
9
Q
MEN 2A
A
Medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia
- Associated w/ RET mutation
10
Q
MEN 2B
A
MEN 2A but with mucosal (oral) neuromas (papules) OR marfanoid habitus instead of parathyroid things
- Associated w/ RET mutation
11
Q
Von Hippel Lindau
A
Von HARP-el Lindau:
- Hemagioblastomas (of the brain; can produce EPO leading to polycythemia)
- Angiomatosis
- Renal cell cancer
- Pheochromocytoma
12
Q
Tuberous Sclerosis
A
Hamartomas Angiofibromas Mitral regurgitation Ash-leaf spots Rhabdomyoma Tuberous sclerosis dOminant Mental retardation Angiomyolipomas Seizures, Shagreen patches
13
Q
Neurofibromatosis type I
A
Cafe au lait spots Intellectual disability Cutaneous neurofibromas (from Schwann cells) Lisch nodules Optic glioams Pheochromocytomas Seizures
