upmc   PITTSBURGH CYTOGENETICS LABORATORY

 

LABORATORY SERVICES

 

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.

Specimen Requirements

SPECIMEN REQUIREMENTS (PDF TABLE)

ONCOLOGY STUDY REQUISITION FORM (PDF TABLE)

Turnaround time:

Chromosome analysis involves culturing of living cells. Microscopic examination of both chromosome number and structure is routinely performed on 20 metaphases, if possible. Additional metaphases will be studied if needed. Whenever possible, two or more G-banded karyograms will be created by computer image analysis on each patient.

The turnaround time varies depending on complexity of the tumor.

FISH Analysis

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

 

PROBE LIST (PDF TABLE)