Oncogenes and tumor suppressor pairs Flashcards
PDGF (PDGFB) function
Growth factor. secreted by activated platlets and macrophages. Induces vascular remodeling, smooth muscle cell prolif. Stimulates fibroblast growth for collagen synthesis
Mutation in PDGF
Astrocytoma
FGF function
Stimulate angiogenesis
EGF function
stimulates cell growth via tyrosine kinases (EGFR/ErbB1)
TGFBeta function
Angiogenesis, fibrosis
Metalloproteinases function
tissue remodeling
VEGF function
stimulate angiogenesis
ALK disease
oncogene receptor tyrosine kinase, lung adenocarcinoma
BCR-ABL disease
oncogene tyrosine kinase, CML (9;22), ALL
BCL-2 disease
oncogene antiapoptoic molecule (inhibits apoptosis, gets too stable follic and diffuse large bell lymphoma
BRAF disease
oncogene serine/threnonine kinase: melanoma, non hodgkin lymphoma, papillary thyroid carcinoma
C-Kit disease
oncogene cytokine receptor, GI stromal tumor
c-MYC disease
oncogene trnascription factor, nuclear regulator, burkitt lymphoma t(8:14)
HER2/neu (cerbb2) disease
oncogene receptor tyrosine kinase breast and gastric carcinomas
Trastuzumab
tx for HER2neu cancers
JAK2 disease
oncogene tyrosine kinase; CML
KRAS disease
oncogene GTPase; colon cancer, lung cancer, pancreatic cancer
MYCL1 disease
oncogene transcription factor, lung tumor
MYCN disease
oncogene trnascirption factor, neuroblastoma
RET disease
oncogene receptor tyrosine kinase (growth factor receptor), neural growth factor, MEN2A, MEN2B, medullary thyroid cancer
TSC1/TSC2 disease
tumor suppressor TSC1: hamartin protein, TSC2: tuberin protein, Tuberous sclerosis
VHL func and disease
tumor suppressor inhibits hypoxia inducible fator 1a von hippel lindau disease
WT1 disease
tumor suppressor Wilms tumor (nephroblastoma) transcription factor regulating urogenital development
NF1 diseasse
Neurofibromin (Ras GTPase activating protein) tumor suppressor NF1
NF2 disesase
tumor suppressor Merlin (Schwannomin protein) NF2
DCC
tumor suppressor Deleted In Colon Cancer (DCC) Colon Cancer
DPC4/SMAD4
tumor suppressor Deleted in Pancreatic Cancer (DPC) Pancreatic cancer
APC
tumor suppressor negative regulator of beta catenin, WNT pathway Colorectal cancer (FAP assoc)
p53
Tumor suppressor, regulate cell cycle growth between G1 and S (upregulates BAX; disrupts Bcl2->cytochrome c leakage and destruciton) Start with 1 mutation in Li-Fraumeni syndrome present in over 50% of cancers
Rb
tumor suppressor, regulate G1 to S; holds E2F transcription factor, needed to progress to S phase E2F is released when RB is phosphorylated by clini D/CDK4 complex Mutation? free E2F and progression Sporadic: unilateral retionblastoma Rb disease? Retinoblastoma, osteosarcoma, often bilateral
CCND1 (cyclin D1)
cyclin, important in phoshporylating Rb to release E2F, Mantle Cell lymphoma t(11;14) oncogene
CDK4
oncogene cyclin dependent kinase, important in phoshporylating Rb to release EBF Melanoma
Liver fluke, clonorchis sinensis
Cholangiocarcoma
Schistoma Haematobium
bladder cancer (Squamous)
Psamomma bofdies
papillary carcinoma thyroid, serous papillary ovarian, meningioma, malignant mesothelioma
alk phos tumor marker
metastes to obne or liver, paget disease of obne, seminoma
AFP tumor marker
HCC< hepatoblastoma, yolk sac tumor, mixed germ cell tumor (dont forget in preg high is neural tube defect or abd wall, low is down syndrome)
Beta hcgtumor
hydratiform moles, choriocarcinomas, testicular cancer, mixed germ cell tumor
CA 15-3 CA27/29 tumor
Breast Cancer
CA19-9 tumor
pancreatic cancer
CA125 tumor
ovarian cancer
Calcitonin tumor
medullary thyroid carcinoma (including men2a and men2b)
CEA tumor
major assoc with colorectal and pancreatic, minor with gastric, breast, medullary
chromogranin tumor
neuroendocrine
PSA tumor
prostate cance,r but can be raised in BPH and prostatitis
GFAP stain
neuroglia
Neurofilament stain
neurons
keratin stain
epithelium
vimetin stain
mesenchyme
desmin stain
muscle
ER stain
breast epithelium
thyroglobulin stain
thyroid follic cells
chromogranin stain
neuroendocrine cells (eg small cell lung, carcinooid tumor)
S-100 stain
melanoma, schwannoma, langerhans cell histocytosis
P-glycoprotein function
MDR1 (multidrug reisstant protein 1), pumps out toxins like chemotherapeutic agents, bad news
What mediates cachexia
TNFalpha, IFNgamma, IL1, IL6