Neoplasia Flashcards
Retinoblastoma
increased risk if patient carries RB allele
autosomal dominant
Multiple Endocrine neoplasia
mutation in TK or melanin transcription factors
oncogene
multiple benign colon tumors
Hereditary nonpolyposis colon cancer (HNPCC)
AD disorder caused by mutation in DNA mismatch repair
most common cancer predisposition therapy
**colon (proximal and cecum)
SI, endometrial, and ovarian cancers
Xeroderma pigmentosum
failure of nucleotide excision repair
cells extremely vulnerable to UV damage
increased melanomas (even of the eye)
RET gene mutation
TK receptor becomes oncogenic
constitutively dimerized
cause Multiple Endocrine Neoplasia (MEN)
thyroid, adrenal, para cancers
c-KIT mutations
oncogenic mutation causes permanent dimerization
GI cancers
RAS mutations
RAS oncogene
most common oncogene mutation
pancreatic adenocarcinomas, cholangiocarcniomas
(rare in cervix and breast)
**GTPase gene is mutated (usually inhibits RAS)
RAF mutation
downstream of RAS pathway
melanoma development
Abl mutation
nonreceptor TK oncogene
BCR-ABL complex forms after translocation
Acute Lymphoblastic Anemia
and CML
MYC mutation
oncogenic mutation that pushes the cell thru cycle unchecked
Burkitt Lymphoma
many carcinomas
small cell lung carcinomas
neuroblastoma (indicates poor px)
RB protein
plays a role in the G1/S transition
inactivated by phosphorylation increases cyclin activity
Retinoblastoma
also small cell carcinomas of lung breast and bladder
Li-Fraumeni syndrom
TS
inherited somatic mutation of p53
LOH–> sarcomas and carcinomas (Brain, Breast, Leukemias)
APC/ B-catenin mutations
APC usually inhibits B-catenin (promotes proliferation)
TS
loss of APC or loss of E-cadherins
colon polyps or polyps that become malignant (colorectal carcinoma
INK4a/ARF mutation
usually –>p16–>inhibition of cell replicaiton and increases p53
TS
mutated in a variety of cancers
TGF-B mutation
potent inhibitor of proliferation (activates RB)
100% of pancreatic cancers
83% colon cancers
