Translocations involving the lysine (K)-specific methyltransferase 2A gene ( KMT2A), previously known as mixed lineage leukemia ( MLL), are frequently associated with acute lymphoid leukemia (ALL), acute myeloid leukemia (AML), and mixed-phenotype acute leukemia (MPAL) 1. Adding FISH of KMT2A to routine detection leads to more accurate detection of KMT2A-r and improved identification of KMT2A CNV, which would benefit patients by improving the risk stratification in AL. Ten patients with acute myeloid leukemia (AML) harboring KMT2A CNV had a complex karyotype, a negative prognostic factor in AML. FISH also identified 17 KMT2A CNV, 15 with gains and two with deletions. Twenty-three samples were identified as positive for KMT2A-r (20 using FISH, 15 using RT-PCR, 16 using CBA, and eight according to all three).
The three detection techniques were compared in identification of KMT2A-r, and the applicability of FISH for detecting KMT2A CNV was evaluated. This study investigated the potential value of FISH in the treatment of AL by performing FISH along with CBA and RT-PCR in 269 de novo cases of AL.
The fluorescence in situ hybridization (FISH) probe for KMT2A detects KMT2A-r and copy number variation (CNV) but is not routinely used as a detection technique. Detection of this aberration in Chinese adult patients relies on reverse transcription polymerase chain reaction (RT-PCR) and chromosome banding analysis (CBA). Most cases of acute leukemia (AL) with KMT2A rearrangement ( KMT2A-r) have a dismal prognosis.
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