Robbins Chapter 8: Neoplasia

Robbins Chapter 8: Neoplasia

TUMORMUTATIONGENEGENE PRODUCT
AML, ALLt(4;11)(q21;q23)
t(6;11)(q27;q23)
Burkitt lymphomat(8;14)(q24;q32)c-myc; IgH
Colon carcinomaK-ras
CMLt(9;22)(q34;q11)bcr;abl
Ewing sarcomat(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 lymphomat(14;18)(q32;q21)IgH; bcl-2
T cell ALLt(8;14)(q24;q11)
t(10;14)(q24;q11)
c-myc; TCR-a
Mantle cell lymphomat(11;14)(q13;q32)Cyclin D; IgH
Melanoma of soft partst(12;22)(q13;q12)
Meningiomadel 22
NeuroblastomaN-myc amplification
Pleomorphic adenomast(8, 12, or 3)
Retinoblastomadel(13q14)RbCell cycle regulation

t = translocation

Tumor MarkerTumor
ACTHSmall cell carcinoma, carcinoid
AFPHepatocellular CA, Yolk sac tumor, cirrhosis, liver necrosis, hepatitis, pregnancy, fetal distress/death, fetal neural tube defects (anencephaly/spina bifida).
AndrogensArrhenoblastoma
CA19-9Pancreatic CA
CalcitoninMedullary Carcinoma
CEACholangiocarcinoma, Pancreatic ca, Colon ca
hCGChoriocarcinoma
InsulinInsulinoma, retroperitoneal fibromas and fibrosarcomas
PAPProstate CA
PLAPSeminoma
PSAProstate CA
TTF-1Lung, thyroid
VIPislet cell tumor, ganglioneuromas, neuroblastoma, neurofibroma, pheochromocytoma
TumorClinical AssociationsMutations
Hepatocellular carcinomaHBV, cirrhosis, HCV
CholangiocarcinomaThorotrast, Opisthorchis/Clonorchis sinensis
Hepatic Angiosarcomavinyl chloride, arsenic, Thorotrast
Pancreatic carcinomasmoking, ETOH, familial relapsing pancreatitisK-ras (90%), p53 (60-80%)