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