Neoplasia Flashcards
BRC-ABL
CML, ALL
GOF in tryosine kinase
bcl-2
Follicular and undifferentiated lymphomas
GOF in anti-apoptotic molecule
BRAF
Melanoma
GOF in serine/threonine kinase
c-kit
GIST
GOF in cytokine receptor for stem cell factor
c-myc
Burkitt lymphoma
GOF in transcription factor
HER2/neu (c-erbB2)
Breast, ovarian, gastric carcinomas
GOF in tyrosine kinase
L-myc
Lung tumor
GOF in transcription factor
N-myc
Neuroblastoma
GOF in transcription factor
ras
Colon, lung and pancreatic cancer
GOF in GTPase
ret
MEN 2A and 2B
GOF in tyrosine kinase
APC
Colorectal cancer (FAP) (LOF)
BRCA1 and BRCA2
Breast and Ovarian
LOF in DNA Repair protein
CPD4/SMAD4
Pancreatic cancer (DPC= deleted in pancreatic cancer)
DCC
Colon Cancer (DCC= deleted in colon cancer)
MEN1
MEN type 1
LOF
NF1
Neurofibromatosis type 1
LOF in RAS GTPase activating protein (neurofibromin)
NF2
Neurofibromatosis type 2
LOF in Merlin (schwannomin) protein
p16
Melanoma
LOF in cyclin-dependent kinase inhibitor 2A
p53
Most cancer (Li-Fraumeni syndrome) (LOF in TF for p21 to prevent block of G1 to S)
PTEN
Breast, prostate, endometrial cancer
LOF
Rb
Retinoblastoma, osteosarcoma
LOF in inhibitor of E2F (can’t block G1 to S)
TSC1
Tuberous sclerosis
LOF in hamartin protein
TSC2
Tuberous sclerosis
LOF of Tuberin protein
VHL
von Hippel-Lindau disease
LOF in HIF1a
WT1 and WT2
Wilms Tumor (nephroblastoma)
What is alkaline phosphate a marker for?
- Mets to bone and liver
- Paget disease of bone
- Seminoma (placental ALP)
What is alpha-fetoprotein a marker for?
- HCC
- Hepatoblastoma
- Yolk sac (endodermal sinus) tumor
- Testicular cancer
- Mixed germ cell tumor (secreted with beta-hCG)
What is beta-hCG a marker for?
- Hydatidiform moles and Choriocarcinomas (gestational trophoblastic disease)
- Testicular cancer
- Pregnancy
What is CA-15-3/CA-27-29 a marker for?
Breast cancer