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t(11;20)(q23;q11) KMT2A::MAPRE1

Written2006-03JF Fu, LY Shih
Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital, 199 Tung-Hwa North Road, Taipei 105, Taiwan

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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
Atlas_Id 1415

Clinics and Pathology

Disease pro-B acute lymphoblastic leukemia (L2)
Epidemiology One case described (42 yrs); male
Clinics The patient presented with fever and chills for 10 days. He had multiple 0.5 to 1.0 cm lymph nodes on bilateral necks, axillary and inguinal areas. He had no hepatosplenomegaly. His initial blood counts were HB 10.3 gm/dL, WBC 579.0 x 109/L with 97% blasts, and platelet 37.0 x 109/L.
Cytology Bone marrow smear showed 99% blasts (FAB L2), which were negative for myeloperoxidase and exhibited diffuse fine granular patterns for PAS and acid phosphatase stains. Immunophenotypic analysis showed that the blasts were positive for CD19, CD33, CD34, HLA-DR and cyCD79; and negative for CD10, CD7, CD2, CD13, and cyMPO.
Treatment The patient refused chemotherapy


Cytogenetics Morphological Cytogenetic analysis was not performed.

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Protein 431 KDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyltransferase motif, and a SET [Su(var)3-9, enhancer of Zeste, and trithorax] doamin
Gene NameMAPRE1 (Microtubule-associated protein, RP/EB family, member 1)
Location 20q11.21
Protein MAPRE1 encoding EB1 which contains a microtubule-binding domain, a dynactin-binding domain (DBD), and an APC-binding domain that is overlapped to DBD; localized at cytoplasmic microtubule tips, centrosomes, and spindle microtubules, and interacts with APC or dynein/dynactin complex to regulate microtubule dynamics, cell polarity, and chromosomal stability

Result of the chromosomal anomaly

Hybrid gene
  Partial nucleotide and deduced amino acid sequence of the break junctions of MLL-MAPRE1 and MAPRE1-MLL fusion transcripts. Vertical lines indicate break junctions.
Description 5' MLL-3' MAPRE1, with fusion of MLL exon 6 to MAPRE1 exon 5; the reciprocal in-frame MAPRE1-MLL is also transcribed
Detection cDNA panhandle PCR
Fusion Protein
  Schematic representation of MLL-EB1 and EB1-MLL fusion proteins. AT-H, AT hooks; MT, DNA methyltansferase motif; Zn-F, zinc finger domain; SET, [Su(var]3-9, enhancer of zeste, and trithorax] domain; En, microtubule-binding domain; ABD, APC-binding domain; numbers indicate amino acids of each protein.
Description NH2-AT hook and DNA methyltransferase motif from MLL fused to APC-binding domain of EB1

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


MLL is fused to EB1 (MAPRE1), which encodes a microtubule-associated protein, in a patient with acute lymphoblastic leukemia.
Fu JF, Hsu HC, Shih LY
Genes, chromosomes & cancer. 2005 ; 43 (2) : 206-210.
PMID 15751040


This paper should be referenced as such :
Fu, JF ; Shih, LY
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):199-200.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;20)(q23;q11) KMT2A/MAPRE1

External links

KMT2A (11q23.3) MAPRE1 (20q11.21)

Mitelman databaset(11;20)(q23;q11)
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]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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