Acute Myeloid Leukemia Panel by FISH

FISH FOR PML-RARA [t(15;17)]

This testing is used to detect the abnormal promyelocytic leukemia / retinoic acid receptor alpha
or PML-RARA gene sequence. It is used to help diagnose acute promyelocytic leukemia (APL)
in which the PML-RARA gene sequence is present, to guide treatment, to monitor response to
treatment, and to monitor for disease recurrence.

FISH FOR CBFB-MYH [inv(16)]

This testing is used for the detection of chromosome 16q22 rearrangements which occur in
inv(16)(p13;q22) or t(16;16)(p13;q22) and the deletion of 16q22. Aberrations of chromosome
16q22 have been found to be associated with acute myeloid leukemia of FAB M4 Eo subtype.
Patients with the CBFB rearrangement who undergo high dose cytarabine treatments achieve a
longer complete remission.

FISH FOR AML1-ETO [t(8;21)]

This testing is used for the detection of fusion of the AML1 and ETO genes which defines a
specific AML subtype. These two genes are also known as RUNX1 and RUNX1T1
(respectively). This gene fusion is the result of a chromosomal translocation: t(8;21)(q22;q22).
Fusion of AML1 and ETO is associated with favourable prognosis in adults with AML.

Acute Myeloid Leukemia Panel by FISH

FISH FOR BCR-ABL [t(9;22)]

This testing is used to detect the fusion of BCR and ABL1 genes in individuals with chronic
myeloid leukemia (CML), adult precursor B-cell acute lymphoblastic leukemia (B-ALL) and
pediatric B-ALL. It helps to diagnose CML or ALL, monitor treatment, monitor for recurrence
and/or detect resistance to therapy.

FISH FOR TEL-AML1 [t(12;21)]

This testing detects the presence of translocation involving the TEL gene on 12p13 and the
AML1 gene on 21q22. The TEL/AML1 gene fusion is associated with a more favorable
prognosis as evidenced by a significantly lower relapse rate.

FISH FOR MLL (11q23)

This testing is used for the detection of Mixed lineage leukemia (MLL) gene abnormalities that
are frequently found in infant leukemias and therapy-related leukemias. It is believed to confer
poor prognosis.

FISH FOR PBX1-TCF3 [t(1;19)]

This testing allows detection of balanced and unbalanced translocations involving 1q23.3
(PBX1) and 19p13.3 (TCF3). This translocation has been observed in acute lymphoblastic
leukemia with a precursor-B immunophenotype and is associated with poor prognosis.
WHOLE GENOME ANALYSIS BY MULTICOLOUR FLUORESCENT IN-SITU
HYBRIDIZATION (M-FISH)
Multicolour fluorescent in-situ hybridization (M-FISH) is whole chromosome painting available
for every human chromosome, allowing the simultaneous painting of the entire genetic
complement in 24 colours. This testing is used for the precise characterization of unbalanced
translocations, complex chromosomal rearrangements, marker chromosomes and numerical
chromosome aberrations with applications in tumor cytogenetics, clinical genetics and radiation
biodosimetry. Note: mFISH is generally used as a research
tool.

FISH FOR HER2/NEU

HER2/neu tissue testing is used to determine whether the tumor is positive for HER2/neu and
the person may benefit from treatment with trastuzumab (Herceptin), a drug that was created
to target HER2.