| 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. |
| Cytogenetics |
| Additional anomalies | Sole anomaly. |
| Genes involved and Proteins |
| Gene Name | SMAP1 |
| 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 Name | MLL |
| Location | 11q23 |
| 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 |
| Description | 5' MLL-3' SMAP1 |
| External links |
| Other database | t(6;11)(q13;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(6;11)(q13;q23) | CancerChromosomes (NCBI) |
| 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. |
| Bibliography |
| 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, Rodrˆ‚guez de Cˆ„rdoba S, Galˆ°n JJ, Antiˆ±olo G |
| Gene. 2002 ; 292 (1-2) : 167-171. |
| PMID 12119110 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 10-2007 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(6;11)(q13;q23). Atlas Genet Cytogenet Oncol Haematol. October 2007 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0611q13q23ID1408.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:45:54 CET 2010 |
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