240- cancer syndromes (non-boobs) Flashcards
FAP: what gene is mutated? what chromosome? what is the molecular pathway? where is cancer?
APC gene on chromosome 5. Loss of APC, K-RAS mutation, loss of p53 and DCC.
Always involves rectum
Gardner syndrome
FAP + osseous and soft tissue tumors. Hypertrophy of retinal pigmented epithelium
Turcot syndrome
FAP + CNS tumor
Lynch syndrome: another name for it? what gene? what is the molecular pathway? where is the cancer
HNPCC. MMR gene. Microsatellite instability. Proximal colon always involved
peutz-jeghers syndrome: what do you find in the GI tract? elsewhere? malignant?
multiple hamartomas throughout.
Hyperpigmented mouth, lips, hands, genitalia
Increased risk of CRC but not malignant itself
Juvenile polyposis syndrome: what is it and is there and increased risk of carcinoma?
multiple GI polyps in children < 5yo. Increased risk of adenocarcinoma
Colonic polyps: what are the two types? what make them more or less likely to progress to cancer?
hyperplastic (serrated appearance on microscopy). Benign
Adenomatous. Pre-malignant
size >2cm, sessile (rounded as opposed to peduculated), villous histology (as opposed to tubular)
WIlms tumor: part of what complex? what is the mutation? on what chromosome?
WAGR complex: wilms tumor, aniridia, GU malformation, metal Retardation
WT1 or WT2 on chromosome 11
Von hipple lindau: what mutation on what chromosome and leads to what? what does the mutation do?
VHL gene on chromosome 3. VHL usually ubiquinates HIF-alpha. Bilateral clear cell RCC. hemangionas in skin, mucosa. hemangioblastoma in retina, brain stem. Pheochromocytomas
MEN1: what tumors? Presentation? Gene?
“Diamond” Pituitary, parathyroid, pancreas (ZE syndrome, VIPomas). Kidney stones and stomach ulcers. MEN gene
MEN2A: what tumors? what gene
“Square”. Parathyroid and pheos + Medullary thyroid. ret gene
MEN2B: what tumors? what gene? other features?
“triangle”. Oral ganglioneuromas and pheos + medullary thyroid. ret gene. Marfanoid habitus
