Abstract
As an uncommon but nonrandom translocation in acute myeloid leukemia (AML) t(5;11)(q31;q23)
results in fusion between KMT2A at 11q23 and ARHGAP26 at 5q31. The 5q31 region has another KMT2A partner, AFF4, which was identified in acute lymphoblastic leukemia harboring ins(5;11)(q31;q13q23).
We report here a 65-year-old woman with AML M5b. G-banding and spectral karyotyping
demonstrated 46,XX,t(5;11)(q31;q23.3). Fluorescence in situ hybridization revealed not only separated 5′ and 3′ KMT2A signals but a faint 5′ KMT2A signal. Reverse transcription polymerase chain reaction (RT–PCR), using a KMT2A sense primer and ARHGAP26 antisense primer, detected no band whereas RT–PCR with a AFF4 antisense primer revealed an amplified band. However, sequence analysis unexpectedly
disclosed that KMT2A exon 6 was connected with MLLT10 exons 15 to 18. This may be due to cross-hybridization between MLLT10 exon 18 and AFF4 antisense primer derived from AFF4 exon 10 since both exons had eight identical bases (AAGCAGCT). The MLLT10 gene is located at 10p12.31; a faint 5′ KMT2A signal was probably present at this locus. These findings indicate that in AML the
5′ KMT2A fragment containing exons 1 to 6 may be cryptically inserted into MLLT10 intron 14 when a reciprocal translocation t(5;11)(q31;q23.3) involving KMT2A occurred.
Keywords
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Article info
Publication history
Published online: February 03, 2023
Accepted:
February 2,
2023
Received in revised form:
January 11,
2023
Received:
August 31,
2022
Identification
Copyright
© 2023 Elsevier Inc. All rights reserved.
