Robbins Chapter 8: Neoplasia

TUMOR
MUTATION
GENE
GENE PRODUCT
AML, ALL t(4;11)(q21;q23)
t(6;11)(q27;q23)
Burkitt lymphoma t(8;14)(q24;q32) c-myc; IgH
Colon carcinoma K-ras
CML t(9;22)(q34;q11) bcr;abl
Ewing sarcoma t(11;22)(q24;q12) FL-1;EWS
HNPCC (Hereditary non-polyposis colon cancer) 2p16
3p21
hMSH2 (50%)
hMLH1 (30%)
hPMS1&2 (20%)
Genes involved in DNA mismatch repair
Follicular lymphoma t(14;18)(q32;q21) IgH; bcl-2
T cell ALL t(8;14)(q24;q11)
t(10;14)(q24;q11)
c-myc; TCR-a
Mantle cell lymphoma t(11;14)(q13;q32) Cyclin D; IgH
Melanoma of soft parts t(12;22)(q13;q12)
Meningioma del 22
Neuroblastoma N-myc amplification
Pleomorphic adenomas t(8, 12, or 3)
Retinoblastoma del(13q14) Rb Cell cycle regulation

t = translocation


Tumor Marker Tumor
ACTH Small cell carcinoma, carcinoid
AFP Hepatocellular CA, Yolk sac tumor, cirrhosis, liver necrosis, hepatitis, pregnancy, fetal distress/death, fetal neural tube defects (anencephaly/spina bifida).
Androgens Arrhenoblastoma
CA19-9 Pancreatic CA
Calcitonin Medullary Carcinoma
CEA Cholangiocarcinoma, Pancreatic ca, Colon ca
hCG Choriocarcinoma
Insulin Insulinoma, retroperitoneal fibromas and fibrosarcomas
PAP Prostate CA
PLAP Seminoma
PSA Prostate CA
TTF-1 Lung, thyroid
VIP islet cell tumor, ganglioneuromas, neuroblastoma, neurofibroma, pheochromocytoma


Tumor Clinical Associations Mutations
Hepatocellular carcinoma HBV, cirrhosis, HCV
Cholangiocarcinoma Thorotrast, Opisthorchis/Clonorchis sinensis
Hepatic Angiosarcoma vinyl chloride, arsenic, Thorotrast
Pancreatic carcinoma smoking, ETOH, familial relapsing pancreatitis K-ras (90%), p53 (60-80%)