Lipoblastoma / Lipoblastomatosis
Supplemental Studies
Immunohistology
- S100 labels fat cells but is seldom of diagnostic utility
- One report of 100% CD34 reactivity in tumor cells (Coffin)
- Not described or illustrated
Immunohistochemistry of lipomatous tumors
| MDM2 | CDK4 | p16 | |
| Atypical lipomatous tumor | 60-100% | 84-92% | 83% |
| Dedifferentiated liposarcoma | 95 | 92-100 | |
| Myxoid / round cell liposarcoma | 4 | 4 | |
| Pleomorphic liposarcoma | 0 | 0 | |
| Lipoma | 0-4 | 0 | 0 |
| Spindle cell and pleomorphic lipoma | 0-12 | 0-6 | |
| Angiomyolipoma | 0 | 0 | |
| Hibernoma | 0 | 0 | positive (1 case) |
| Lipoblastoma | 0 (1 case) | 0 (1 case) | positive (1 case) |
Genetic Study
- Nearly all cases have demonstrable abnormalities of 8q(11-13) or polysomy 8
- Results in overexpression of PLAG1 gene
- Demonstrable by FISH for PLAG1 or cytogenetics
- FISH shows all cell types to be involved
- Lipoblasts, mature adipocytes
- Primitive mesenchymal cells and fibroblast-like cells
FISH/PCR of lipomatous tumors
| MDM2 FISH | MDM2 QPCR | CDK4 FISH | CDK4 QPCR | |
| Atypical lipomatous tumor | 90-100% | 72-100% | 75-100% | 69-100% |
| Dedifferentiated liposarcoma | 100% | 100% | 100% | 100% |
| Myxoid liposarcoma | 20% | |||
| Spindle cell / pleomorphic lipoma | Negative | Negative | Negative | Negative |
| Angiolipoma | Negative | |||
| Lipoma, NOS | Negative | Negative | Negative | Negative |
| Sarcomas | 0-40% | 0% | 0% | 0% |
