|
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 |
| 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%) |