t(2;11)(p21;q23) KMT2A/?

2016-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
2.Cancer Research Center, Moscow, Russia


Review on t(2;11)(p21;q23) with MLL (KMT2A) involvement, with data on clinics, and the genes involved.

Clinics and Pathology


Myelodysplastic syndromes: (MDS), acute myeloid leukemia: (AML) and acute lymphoblastic leukemia (ALL).

Phenotype stem cell origin

Although at least 43 cases of t(2;11)(p21;q23) have been described in hematological malignancies (19 MDS, 21 AML, 2 acute lymphocytic leukemia (ALL) and 1 chronic lymphocytic leukemia: (CLL) (Mitelman et al., 2016)., The implication of MLL was ascertained in only 5 cases (Thirman et al., 1993; Finke et al., 1994; Fleischman et al., 1999; Kim et al., 2002; Meyer et al., 2006), a case with a hidden involvement of AFF3 (2q11) being discarded (Hiwatari et al., 2003), while thirty two case of t(2;11)(p21;q23) without MLL rearrangement are available (review in Ruano and Shetty, 2016). There were a case of refractory anemia with excess of blasts: (RAEB) evolving towards an AML, a M0-AML: evolving towards a M4-AML, a M5a-AML, and two ALLs.


Sex ration was 3M/1F. Patients were aged 8 months, 58, 58, and 61 years (Thirman et al., 1993; Finke et al., 1994; Fleischman et al., 1999; Kim et al., 2002).



Genes Involved and Proteins

the gene involved in 2p in unknown
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
37 exons, spanning about 120 kb; 13-15 mRNA
Protein description
3969 amino acids, 431 kDa; Transcriptional regulatory factor. MLL is known to be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development, through regulation of HOX genes expression regulation (HOXA9 in particular).

Result of the Chromosomal Anomaly




Pubmed IDLast YearTitleAuthors
81671791994Detection of chromosome 11q23 involving translocations by pulsed field gel electrophoresis.Finke J et al
98859821999MLL is involved in a t(2;11)(p21;q23) in a patient with acute myeloblastic leukemia.Fleischman EW et al
127436082003Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).Hiwatari M et al
124725702002A study on 289 consecutive Korean patients with acute leukaemias revealed fluorescence in situ hybridization detects the MLL translocation without cytogenetic evidence both initially and during follow-up.Kim HJ et al
165115152006The MLL recombinome of acute leukemias.Meyer C et al
83615041993Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.Thirman MJ et al


Atlas Image
t(2;11)(p21;q23) G- banding (left) - Courtesy Eric Crawford, and R- banding (Editor)


Jean-Loup Huret

t(2;11)(p21;q23) KMT2A/?

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1109/t(2;11)(p21;q23)

Historical Card

2000-01-01 t(2;11)(p21;q23) KMT2A/? by  Elena W Fleischman 

Cancer Research Center, Moscow, Russia

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