Fluorescence In Situ Hybridization

Fluorescence in situ hybridization (FISH) is a technique that uses fluorescent probes that bind only to parts of a chromosome with a high degree of sequence complementarity. The fluorescence-labeled DNA probes specific to chromosomal regions of interest are used to identify DNA changes on a chromosome. FISH is used to identify numerical abnormalities of chromosomes as well as deletions, duplications, translocations and inversions of certain disease-specific regions. FISH is very useful in identifying deletions, duplications and rearrangements of small disease regions when the presence of these anomalies is unidentifiable by standard chromosome analysis. In hematopoietic neoplasms, FISH aids in diagnosis, prognosis and choice of treatment options.

FISH PANELS: HEMATOLOGY
  • ALL
    BCR/ABL (t(9;22)), D10Z1/D17Z1/CHIC2 (Hyperdiploidy), E2A Break-Apart (E2A Rearrangement), IGH Break-Apart (IGH Rearrangement), MLL Break-Apart (MLL Rearrangement), MYC Break-Apart (MYC Rearrangement), P16/D9Z3 (P16 Deletion), TEL/AML1 (t(12;21))
  • AML
    AML1/ETO (RUNX1/RUNX1T1, (t(8;21)), CBFβ/MYH11 (Inv(16)), EGR1/5p15.31 (5q Deletion), CEP 8 (Trisomy 8), PML/RARA (t(15;17)), RELN/TES (7q Deletion)
  • CLL
    13q14.3 (13q14.3 Deletion), ATM/D11Z1 (ATM Deletion), D12Z1 (Trisomy 12), IGH/CCND1 (t(11;14)), MYB/D6Z1 (6q Deletion), p53/D17Z1 (P53 Deletion)
  • CML
    BCR/ABL1-ASS(t(9;22)), CEP 8 (Trisomy 8)
  • Myeloma
    13q14.3 (13q14.3 Deletion), CKS1B/CDKN2C, IGH/CCND1 (t(11;14)), IGH/FGFR3 (t(4;14)), P53/D1721 (P53 Deletion), CEP 3 (Trisomy 3), CEP 9 (Trisomy 9)
  • MDS
    CEP8 (Trisomy 8), EGR1/5p15.31 (5q Deletion), MLL Break-Apart (MLL Rearrangement), P53/D17Z1 (P53 Deletion), PTPRT/MYBL2 (20q Deletion), RELN/TES (7q Deletion)
  • Eosinophilia
    FIP1L1/CHC2/PDGFRA Deletion/Fusion, FGFR1 Rearrangement, PDGFRB Rearrangement
  • High-Grade/Large B-Cell Lymphoma
    IGH/BCL2; BCL6; cMYC/IGH
  • Low-Grade/Small B-Cell Lymphoma
    IGH/CCND1; MALT; IGH/BCL2; BCL6
FISH Probes: Hematology
  • ALK/Lymphoma (2p23)
    Break-Apart probe covers ALK gene on chromosome 2 at locus p23
  • ATM (11q22)
    Probe covers ATM gene on chromosome 9 at locus q22.3. D11Z1 is as a control probe for chromosome 11
  • BCL6 (3q27)
    Break-Apart probe covers BCL6 gene on chromosome 3 at locus q27
  • BCR-ABL/ASS1 t(9;22)
    Translocation, dual fusion probe covering BCR gene on chromosome 22 at locus q11.22-q11.23 and ABL1-ASS genes on chromosome 9 at locus q34.11-q34.12
  • CBFB/MYH11 inv(16)
    Translocation, dual fusion probe covering CBFB gene at locus q22.1 and MYH11 gene at locus p13.11
  • CKS1B/CDKN2C (1p/1q)
    Probe covers CDKN2C gene locus p32.3 and CKS1B gene at locus q21.3, both on chromosome 1
  • ETV6/RUNX1 t(12;21)
    Break-Apart probe covers ETV6 gene on chromosome 12 at locus p13.2
  • FGFR1 (8p11)
    Break-Apart/amplification probe covers FGFR1 gene on chromosome 8 at locus 8p11
  • IGH (14q32)
    Break-Apart probe covers IGH gene on chromosome 14 at locus q32.3
  • IGH/BCL2 t(14;18)
    Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and BCL2 gene on chromosome 18 at locus q21
  • IGH/CCND1 t(11;14)
    Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and CCND1 gene on chromosome 11 at locus q13
  • IGH/FGFR3 t(4;14)
    Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and FGFR3 gene on chromosome 4 at locus p16.3
  • IGH/MAF t(14;16)
    Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and MAF gene on chromosome 16 at locus q23
  • IGH/MYC t(8;14)
    Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and MYC gene on chromosome 8 at locus q24.21
  • MALT1 (18q21)
    Break-Apart probe covers MALT1 gene on chromosome 18 at locus q21
  • MLL (11q23)
    Break-Apart probe covers MLL gene on chromosome 11 at locus q23.3
  • c-MYC (8q24)
    Break-Apart probe covers cMYC gene on chromosome 8 at locus q24
  • PDGFRA (4q12)
    Deletion/fusion probe covering FIP1L1/CHIC2/PDGFRA genes on chromosome 4 at locus 4q12
  • PDGFRB (5q32)
    Break-Apart probe covers PDGFRB gene on chromosome 5 at locus q32
  • PML/RARA t(15;17)
    Translocation probe covering PML gene on chromosome 15 at locus q24.1 and RARA gene on chromosome 17 at locus q21.1-q21.2
  • RUNX1T1/RUNX1 (ETO/AML1) t(8;21)
    Translocation probe covering ETO(RUNX1T1) gene on chromosome 8 at locus q21.3 and AML1(RUNX1) gene on chromosome 21 at locus q22.12
  • TP53 (17p13)
    Probe covers TP53 gene on chromosome 17 at locus p13. D17Z1 is a control probe for chromosome 17
  • 5q-/-5/+5
    Probe covers EGR1 gene on chromosome 5 at locus q31.2. The control probe is located on chromosome 5 at locus p15.31
  • 6q21/6q23
    Probe covers MYB gene on chromosome 6 at locus q23.3. D6Z1 is a control probe for chromosome 6
  • 7q-/-7
    Probe covers RELN gene at locus q22.1-q22.2 and TES gene at locus q31.2, both on chromosome 7
  • +8
    Enumeration probe located in the centromeric, pericentromic or heterochromatic region of chromosome 8
  • +12
    Enumeration probe located in the centromeric, pericentromic or heterochromatic region of chromosome 12
  • 13q-/-13
    13q14.3 probe covers D13S319 and D13S25 markers. 13qter probe acts as a control probe.
  • 20q-
    Probe covers PTPRT gene at locus q12 and MYBL2 gene at locus q13.12, both on chromosome 20
FISH: SOLID TUMOR
  • ALK Rearrangement
    The FDA-approved Vysis® ALK Break Apart FISH Probe Kit detects rearrangements involving the ALK gene via fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded (FFPE) non-small cell lung cancer (NSCLC) tissue specimens.
  • HER2 Amplification
    Amplification of the ERBB2 gene (encoding for HER2 protein) is detected by fluorescent in situ hybridization (FISH) in human breast and esophagogastric cancer tissue specimens.
  • EWSR1 Rearrangement
    Probes: EWSR1 (22q12)
    Disease(s): Ewing sarcoma, primitive neuroectodermal tumor (PNET)
  • MET Amplification
    Amplification of the MET gene is detected by fluorescence in situ hybridization (FISH)
  • ROS1 Rearrangement
    Probes: ROS1 (6q22.1)
    Disease(s): Non-small cell lung carcinoma (NSCLC)
FISH: POC PLOIDY
  • FISH on Formalin Fixed Products of Conception, Common Trisomies and Triploidies, Chromosomes 13/16/18/21/X/Y