The impact of fluorescence in situ hybridization on the detection of genetic aberrations in haematological oncology

Thomas S.K. Wan and Edmond S.K. Ma

Division of Haematology, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong SAR, China.


Interphase fluorescence in-situ hybridization study has become more or less routinely utilized for the rapid detection of a BCR/ABL fusion in chroinic myeloid leukaemia. Its applications in cancer cytogenetics have vastly multiplied, and probes for many different genetic loci involved in chromosomal translocations have been developed. Commonly occurring translocations such as t(8;21)(q22;q22), t(15;17)(q24;q21.1), and inv(16)(p13q22) in acute myeloid leukaemia (AML), as well as t(12;21)(p13;q22) in acute lymphoblastic leukaemia (ALL), are associated with a favourable prognosis. In addition,  t(9;22)(q34;q11.2) and MLL gene rearrangement at 11q23, which are associated with a poor prognosis, can also be readily identified with gene-specific probes. This is particularly helpful in cases in which these genes are suspected to be involved in compex translocation, especially when the chromosome morphology is poor. This review will summarize the current utilization of these translocation probes in the clinical cytogenetic laboratory.

Keywords: FISH, cytogenetics, gene rearrangement, chromosome translocation, leakaemia

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