Fluorescence in Situ Hybridization (FISH)

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. Fluorescently labeled DNA probes specific to chromosomal regions of interest are used to detect DNA changes on a chromosome. FISH is used to identify submicroscopic numerical abnormalities of chromosomes as well as deletions, duplications, translocations and inversions of certain disease-specific regions beyond the capabilities of classic cytogenetic testing.

FISH testing also allows for the analysis of both metaphase chromosomes in cultured samples, as well as interphase cells in samples where culturing is not possible. In hematopoietic neoplasms, FISH provides rapid detection for aid in diagnosis, prognosis and choice of treatment options.

CorePath’s STAT testing is available for critical cases with 4 to 6 hour PML/RARA FISH results.

ALL
MYC break-apart (MYC rearrangement), CDKN2A/D9Z3 (9p deletion), BCR/ABL1-ASS (t(9;22)), D10Z1/D17Z1/CHIC2 (hyperdiploidy), KMT2A (KMT2A or MLL rearrangement), ETV6/RUNX1 (TEL/AML1; t(12;21)), IGH break-apart (IGH rearrangement), TCF3 break-apart (TCF3 or E2A rearrangement)

AML
5p15.3/EGR1 (5q deletion), RELN/TES (7q deletion), D8Z2 (trisomy 8), RUNX1/RUNX1T1 (AML1/ETO; t(8;21), PML/RARA (t(15;17), CBFB/MYH11 (inv(16))

CLL
MYB/D6Z1 (6q deletion), IGH/CCND1 (t(11;14)), ATM/D11Z1 (ATM deletion), D12Z1 (Trisomy 12), 13q14.3/13q34 (13q deletion or monosomy 13), TP53/D17Z1 (TP53 deletion)

CML
BCR/ABL1-ASS (t(9;22)), D8Z2 (trisomy 8)

Multiple Myeloma
CKS1B/CDKN2C (1q gain/1p deletion), CEP3 (trisomy 3), CEP9 (trisomy 9), 13q14.3/13q34 (13q deletion), TP53/D17Z1 (TP53 deletion)

Multiple Myeloma IGH Reflex
IGH/FGFR3 t(4;14), IGH/CCND1 (t(11;14), IGH/MAF t(14;16), and IGH/MAFB t(14;20)

MDS
5p15.3/EGR1 (5q deletion), RELN/TES (7q deletion), D8Z2 (trisomy 8), KMT2A break-apart (KMT2A or MLL rearrangement), TP53/D17Z1 (TP53 deletion), PTPRT/MYBL2 (20q deletion)

Eosinophilia
FIP1L1/CHIC2/PDGFRA deletion/fusion (CHIC2 deletion and FIP1L1-PDGFRA fusion), FGFR1 break-apart (FGFR1 rearrangement), PDGFRB break-apart (PDGFRB rearrangement)

High-Grade/Large B-Cell Lymphoma
BCL6 break-apart (BCL6 rearrangement), MYC break-apart (MYC rearrangement), BCL2 break-apart (BCL2 rearrangement)

Low-Grade/Small B-Cell Lymphoma
BCL6 break-apart (BCL6 rearrangement), MYC break-apart (MYC rearrangement), IGH/CCND1 (t(11;14)), IGH/BCL2 (t(14;18)), MALT1 break-apart (MALT1 rearrangement)

ALK (2p23) Lymphoma
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

CEP10/CHIC2/CEP17
This probe set covers monosomy, trisomy, or tetrasomy 4, 10, 17 (4q12/Cen 10/Cen 17)

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/MAFB t(14;20)
Translocation probe covering IGH gene on chromosome 14 at locus q32.3 and MAFB gene on chromosome 20 at locus q12

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

KMT2A (MLL; 11q23)

Break-apart probe covers MLL gene on chromosome 11 at locus q23.3

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

TCF3 (E2A) (19p13)
Break-apart probe covers the TCF3 (E2A) gene on chromosome 19 at locus p13.3

TP53 (17p13)
Probe covers TP53 gene on chromosome 17 at locus p13. D17Z1 is a control probe for chromosome 17

5q-/-5
Probe covers EGR1 gene on chromosome 5 at locus q31.2. The control probe is located on chromosome 5 at locus p15.31

MYB (6q23.3)
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
The probe covers 13q14 and 13q34 loci on chromosome 13

20q-/-20
Probe covers PTPRT gene at locus q12 and MYBL2 gene at locus q13.12, both on chromosome 20

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)

Formalin Fixed Products of Conception for Ploidy FISH from Molar Pregnancy
This panel covers chromosomes 13/16/18/21/X/Y

UroVysion
This panel covers +3 (Cen 3) | +7 (Cen 7) | loss of p16-/(9p21) | +17 (Cen 17) for bladder cancer