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

Written2016-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
2000-01Elena W Fleischman
Cancer Research Center, Moscow, Russia

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

Keywords Chromosome 2; chromosome 11; MLL; KMT2A; acute myeloid leukemia; acute lymphoblastic leukemia

(Note : for Links provided by Atlas : click)


ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1109
  t(2;11)(p21;q23) G- banding (left) - Courtesy Eric Crawford, and R- banding (Editor)

Clinics and Pathology

Disease Myelodysplastic syndromes: (MDS), acute myeloid leukemia: (AML) and acute lymphoblastic leukemia (ALL).
Phenotype / cell stem 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.
Epidemiology 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).
Clinics variable


Additional anomalies The t(2;11)(p21;q23) was the sole abnormality in 3 cases, and was accompanied with , del(5q) in one case. It is of note that deletions of 5q usually are not seen in cases with MLL-associated translocations.

Genes involved and Proteins

Note the gene involved in 2p in unknown
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 37 exons, spanning about 120 kb; 13-15 mRNA
Protein 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

Hybrid gene
Description unknown
Fusion Protein
Description unknown


Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer (2016).
Mitelman F, Johansson B and Mertens F (Eds.),"
Detection of chromosome 11q23 involving translocations by pulsed field gel electrophoresis.
Finke J, Kunzmann R, Lange W.
Ann Hematol. 1994 Mar;68(3):133-8.
PMID 8167179
MLL is involved in a t(2;11)(p21;q23) in a patient with acute myeloblastic leukemia.
Fleischman EW, Reshmi S, Frenkel MA, Konovalova WI, Guleva GP, Kulagina OE, Konstantinova LN, Tupitsyn NN, Rowley JD
Genes, chromosomes & cancer. 1999 ; 24 (2) : 151-155.
PMID 9885982
Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).
Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y.
Oncogene. 2003 May 8;22(18):2851-5.
PMID 12743608
A 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, Cho HI, Kim EC, Ko EK, See CJ, Park SY, Lee DS.
Br J Haematol. 2002 Dec;119(4):930-9.
PMID 12472570
The MLL recombinome of acute leukemias.
Meyer C, Schneider B, Jakob S, Strehl S, Attarbaschi A, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, den Boer ML, Pieters R, Ennas MG, Angelucci E, Koehl U, Greil J, Griesinger F, Zur Stadt U, Eckert C, Szczepa?ski T, Niggli FK, Schäfer BW, Kempski H, Brady HJ, Zuna J, Trka J, Nigro LL, Biondi A, Delabesse E, Macintyre E, Stanulla M, Schrappe M, Haas OA, Burmeister T, Dingermann T, Klingebiel T, Marschalek R.
Leukemia. 2006 May;20(5):777-84.
PMID 16511515
t(2;11)(p21;q23) without KMT2A (MLL) rearrangement
Ruano, AL, Shetty, S
Atlas Genet Cytogenet Oncol Haematol
Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.
Thirman MJ, Gill HJ, Burnett RC, Mbangkollo D, McCabe NR, Kobayashi H, Ziemin-van der Poel S, Kaneko Y, Morgan R, Sandberg AA
The New England journal of medicine. 1993 ; 329 (13) : 909-914.
PMID 8361504


This paper should be referenced as such :
JeanLoup Huret
t(2;11)(p21;q23) KMT2A/?
Atlas Genet Cytogenet Oncol Haematol. 2017;21(5):191-192.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Fleischman, EW. t(2;11)(p21;q23). Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):17-18.

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;11)(p21;q23) KMT2A/?

External links

Mitelman databaset(2;11)(p21;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
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