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primeFISH Products Hermatology
HEMATOLOGY

PANEL

17-134 MLL-MLLT4 t(6;11)

The KMT2A (MLL) gene located at 11q23 is rearranged in MLLT1, MLLT10, ELL, and AFDN (MLLT4), respectively.
the majority of acute lymphoblastic leukemia (ALL) or acute The MLLT4 (AFDN) gene is located at 6q27. KMT2A-AFDN
myeloid leukemia (AML) patients, and in approximately fusions result from translocations of the t(6;11)(q27;q23)
10% of all acute leukemia patients. In infants, the incidence type. The most frequent breakpoint is located in intron
of KMT2A rearrangements is around 70-80%. KMT2A is 9 of the KMT2A gene, leading to this translocation. A
a nuclear protein with methyltransferase activity and is significant proportion of ALL patients have borderline
involved in the regulation of target genes necessary for values for the 1st or 2nd exon of the AFDN gene. T-cell
early development and hematopoiesis as part of multiple ALL patients show a significantly higher percentage of
protein complexes. KMT2A has been identified to have KMT2A-AFDN and KMT2A-MLLT1 fusions compared to
over 80 fusion partners. The most common translocation other subgroups of ALL patients.
partners in KMT2A-associated leukemia are AFF1, MLLT3,

TRANSLOCATION

RH37393 SHGC-145679
3' 5'
Gen Tel NORMAL
MLLT4 (AFDN)

505 kb

WI-9069 D11S797
5' 3'
Gen Tel TRANSLOCATION
KMT2A

485 kb

11q23.3 TRANSLOCATION
6q27 (Not to scale)

References
De Braekeleer M, et al. (2005) Anticancer Res 25: 1931-44.
Ford DJ & Dingwall AK (2015) Cancer Genet 208(5): 178-91. www.diagen.com.tr
Keefe JG, et al. (2010) J Mol Diagn 12: 441-52.
Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New
Jersey: John Wiley & Sons Inc.
Kumar et al., Leuk Res. 2011;35(3):305-9

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