Study on mixed lineage leukemia gene rearrangement in AML-M4/M5 by interphase fluorescence in situ hybridization / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the value of fluorescence in situ hybridization (FISH) in the detection of mixed lineage leukemia (MLL) rearrangement and to assess the incidence and prognostic significance of MLL gene rearrangement in AML-M4/M5.</p><p><b>METHODS</b>Bone marrow chromosome preparation of 23 cases of acute myeloid leukemia(AML) consisting of 19 cases with M5 and 4 cases with M4 was made using direct method or short-term culture. Karyotypic analysis was carried out by R-banding technique. Dig labeled 11q23 probe which spans the breakpoint cluster region in MLL was used to detect the MLL rearrangement in the above 23 cases.</p><p><b>RESULTS</b>R-banding karyotyping analysis revealed 11q23 translocation in 7 cases, while FISH analysis detected MLL rearrangement in 12 cases including the above 7 cases.</p><p><b>CONCLUSION</b>Interphase FISH was more sensitive in detecting the MLL rearrangement in AML-M4/M5, compared with the conventional cytogenetic method. MLL rearrangement is highly related to AML-M4/M5; it is an indication of poor prognosis.</p>