Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(6;11)(q13;q23) KMT2A::SMAP1

Written2007-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
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
Atlas_Id 1408

Clinics and Pathology

Disease Acute leukemia
Note Only 2 cases to date; one of which was not further described.
Phenotype / cell stem origin One case was a M4 acute myeloid leukaemia.
Epidemiology The patient was a 14 year old girl
Prognosis Survival was 18 months in the only documented case.


Additional anomalies Sole anomaly.

Genes involved and Proteins

Gene NameSMAP1 (stromal membrane-associated protein 1)
Location 6q13
Protein SMAP1 is a GTPase-activating protein (GAP) for Arf6.
Vesicle formation requires clathrin, its adaptors, and an enzymatic activity. This is given by small GTPase ADP-ribosylation factors (Arf; there is six Arfs, Arf1, Arf3, Arf2/Arf4, Arf5 and Arf6). Arf switches between a GTP-bound active state (regulated by guanine-nucleotide exchange factor (GEF)) and a GDP-bound inactive state (regulated by GTPase-activating protein (GAP)).
Arf6/SMAP1 regulates the clathrin dependent endocytosis of vesicles from the plasma membrane and the recycling of endosome to the plasma membrane.
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Protein transcriptional regulatory factor; MLL may have yin-yang functions though actions of MLL-N and MLL-C (e.g. desacetylation/acetylation); MLL-N acts as a transcriptional repressor; MLL can 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 5' MLL-3' SMAP1

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.


Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 811-822.
PMID 9593286
Cloning, characterization and chromosome mapping of the human SMAP1 gene.
Marcos I, Borrego S, Rodríguez de Córdoba S, Galán JJ, Antiñolo G
Gene. 2002 ; 292 (1-2) : 167-171.
PMID 12119110
Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.
Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R
Proceedings of the National Academy of Sciences of the United States of America. 2005 ; 102 (2) : 449-454.
PMID 15626757
SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network.
Natsume W, Tanabe K, Kon S, Yoshida N, Watanabe T, Torii T, Satake M
Molecular biology of the cell. 2006 ; 17 (6) : 2592-2603.
PMID 16571680
A novel GTPase-activating protein for ARF6 directly interacts with clathrin and regulates clathrin-dependent endocytosis.
Tanabe K, Torii T, Natsume W, Braesch-Andersen S, Watanabe T, Satake M
Molecular biology of the cell. 2005 ; 16 (4) : 1617-1628.
PMID 15659652


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):457-458.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(6;11)(q13;q23) KMT2A/SMAP1

External links

Mitelman databaset(6;11)(q13;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 ( 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]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 16:36:45 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us