FLUORESCENT IN SITU HYBRIDIZATION (FISH) FOR HEMATOLOGICAL MALIGNANCIES AND SOLID TUMORS
Fluorescent in situ hybridization (FISH) is a technique that utilizes hybridization of fluorescein labeled DNA probes to specific chromosomal regions to detect specific chromosome abnormalities. The abnormalities may be translocations, deletions, inversions, trisomies or amplification. The power of these probes results from the fact that analysis can be performed on interphase nuclei, facilitating the analysis of many more cells providing detail concerning percentages of cells that are positive or negative for the rearrangement.
INDICATIONS:
Rapid detection of specific translocations (turn around time 24-48 hours) Gene amplification can be detected Assessment of minimal residual disease following treatment or bone marrow transplant Confirmation of rearrangements difficult to detect on karyotypes Results can be obtained in absence of dividing cells following treatment Detection of an early relapse Identification of the lineage of neoplastic cellsSAMPLE REQUIREMENTS:
FISH studies can be performed on the same sample submitted for chromosome analysis. No additional sample or bone marrow is required.
FISH studies can also be performed on paraffin embedded tissue of excised tumors.
INTERPRETATION:
The diagnosis, type of sample and probe used will determine the number of interphase nuclei or metaphase spreads analyzed by routine laboratory protocol.
RESULTS:
Results are presented according to the International System for Human Cytogenetic Nomenclature (ISCN 2005). Full explanation of the abnormality is provided and a short summary is written for each result.
FISH PROBES AVAILABLE FOR TESTING :
HEMATOLOGIC DISORDERS, Most Commonly Associated Diseases
Cancer Probe
CEPX/CEPY BM Transplant
Myelodysplastic Syndrome (MDS) and/or Secondary Acute Myeloid Leukemia (AML)
EGR1, 5q31 deletion
EGFR, 7p12 deletion
D7S486, 7q31 deletion
CEP 8, trisomy 8
D20S108, 20q12deletion
Acute Myeloid Leukemia (AML)
ETO/AML, t( 8:21 )(q22;q22) (M2)
MLL BA, 11q23 rearrangement (M5)
CBFB BA, 16q22 inversion
RARA BA, 17q21 rearrangement (M3)
Chronic Myeloid Leukemia (CML)
BCR/ABL df, t( 9:22 )(q34;q11.2)
Acute Lymphoblastic Leukemia (ALL) B-Cell
Triple Trisomy, 4, 10, 17
MYB/CEP6, 6q22-23 deletion
LSI 16, 9p21 deletion
BCR/ABL df, t( 9:22 )(q34;q11.2)
MLL BA, 11q23 rearrangement
TEL/AML1, t( 12:21 )(p13;q22)
Acute Lymphoblastic Leukemia (ALL) T-Cell
ABL amplification, BCR/ABL
LSI 16, 9p21 deletion
Multiple Myeloma (MM)
Trisomy 5p15.2, 9cen, 15cen
D13S319, 13q14.3 deletion
RB1, 13q14 deletion
p53, 17p13.1 deletion
CCND1/IGH, t( 11:14 )
SUBTYPES : IGH/MAF, t(14;16)
FGFR3/IGH,t(4;14)
Chronic Lymphocytic Leukemia (CLL)
ATM, 11q22
MLL BA, 11q23 rearrangement
CEP 12, trisomy 12
D13S319, 13q14.3 deletion
13q34 deletion
p53, 17p13.1 deletion
B-Cell Lymphoma-Please specify
IgH BA, 14q32.3
MALT1 BA, 18q21
MYC BA, 8q24
BCL2 BA, 18q21
c-MYC, 8q24-q24.3
SUBTYPES: t(8;14) Burkitt
t(11;14) Mantle Cell
t(14;18) Follicular
t(11;18) MALT/ Marginal Zone
Anaplastic Large Cell Lymphoma
ALK BA, 2p23 ALCL
SOLID TUMORS, Most Commonly Associated Diseases
EWS BA, 22q12, Ewing 's Sarcoma
N-MYC, 2p23-24, Neuroblastoma
FKHR BA, 13q14, Rhabdomyosarcoma
SYT BA, 18q11.2, Synovial Sarcoma
RB1, 13q14 deletion,Retinoblastoma
Cyclin D1, 11q13, head, neck & breast cancer
CHOP BA, 12q13, Myxoid Liposarcoma
FUS BA, 16p11, LGFMS & MLS
p53, 17p13.1, Li-Fraumeni syndrome
ALK BA, 2p23, Inf. My fibroblastic
Her2neu, 17q11.2, PathVysion, Breast Cancer