Cytogenetic Testing for Solid Tumors
Chromosome Analysis
Specific structural chromosomal abnormalities in many solid tumors, especially in soft tissue sarcomas, can be identified by karyotyping. These chromosomal abnormalities are valuable for confirming or establishing the clinical diagnosis of specific sarcoma subtypes. Numerical and structural chromosomal abnormalities present in other solid tumors, particularly childhood tumors and brain tumors, are valuable indicators for diagnosis and prognosis, and are also important for subsequent therapeutic decisions.
The turnaround time varies depending on complexity of the tumor.
FISH Analysis
- Metaphase and interphase FISH tests can be performed on cultured cells from solid tumors.
- Interphase FISH analysis can also be carried out on paraffin embedded tissue sections.
| FISH Probes for Solid Tumors | ||
| Tumors | Abnormalities | Probes |
| Alveolar Rhabdomyosarcoma | 13q14 Rearrangement | (FKHR) FOXO1 |
| Breast Cancer | HER2 Amplification | ERBB2/CEP17 |
| Ewing Sarcoma | 22q12 Rearrangement | EWSR1 |
| Inflammatory Myofibroblastic Tumors | 2p23 Rearrangements | ALK |
| Germ Cell Tumor | Isochromosome 12p | CEP12/12p |
| Gliomas | 1p/19q Deletion | 1p36/1q25 and 19q13/19p13 |
| Low-grade Fibromyxoid Sarcoma | 16p11 Rearrangement | FUS or TLS |
| Myxoid/Round Cell Liposarcoma | 12q13 Rearrangement | CHOP |
| Neuroblastoma | N-myc Amplification | N-my |
| Synovial Sarcoma (SS) | 18q11.2 Rearrangement | SYT |
| Uveal Melanoma | Chromosome 3 Monosomy | CEP3 |
Cytogenetic Testing for Solid Tumors
Chromosome Analysis
Specific structural chromosomal abnormalities in many solid tumors, especially in soft tissue sarcomas, can be identified by karyotyping. These chromosomal abnormalities are valuable for confirming or establishing the clinical diagnosis of specific sarcoma subtypes. Numerical and structural chromosomal abnormalities present in other solid tumors, particularly childhood tumors and brain tumors, are valuable indicators for diagnosis and prognosis, and are also important for subsequent therapeutic decisions.
The turnaround time varies depending on complexity of the tumor.
FISH Analysis
- Metaphase and interphase FISH tests can be performed on cultured cells from solid tumors.
- Interphase FISH analysis can also be carried out on paraffin embedded tissue sections.
| FISH Probes for Solid Tumors | ||
| Tumors | Abnormalities | Probes |
| Alveolar Rhabdomyosarcoma | 13q14 Rearrangement | (FKHR) FOXO1 |
| Breast Cancer | HER2 Amplification | ERBB2/CEP17 |
| Ewing Sarcoma | 22q12 Rearrangement | EWSR1 |
| Inflammatory Myofibroblastic Tumors | 2p23 Rearrangements | ALK |
| Germ Cell Tumor | Isochromosome 12p | CEP12/12p |
| Gliomas | 1p/19q Deletion | 1p36/1q25 and 19q13/19p13 |
| Low-grade Fibromyxoid Sarcoma | 16p11 Rearrangement | FUS or TLS |
| Myxoid/Round Cell Liposarcoma | 12q13 Rearrangement | CHOP |
| Neuroblastoma | N-myc Amplification | N-my |
| Synovial Sarcoma (SS) | 18q11.2 Rearrangement | SYT |
| Uveal Melanoma | Chromosome 3 Monosomy | CEP3 |