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t(11;12)(q23;q13) KMT2A/SARNP

Written2005-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1400

Clinics and Pathology

Disease M4 acute myeloid leukaemia (AML)
Epidemiology only 1 case to date: a 7 mth old boy
Prognosis no data

Cytogenetics

Additional anomalies sole anomaly in this case

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 36 exons, spans over 100kb, ORF 12kb.
Protein 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain.
Gene NameSARNP (cytokine induced protein 29 kDa)
Location 12q13.2
Protein 210 amino acids, 29 kDa;contains from N term to C term a SAP domain and 2 nuclear localization domains

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' CIP29 including the 9 first exons of MLL, and nearly the entire CIP29
  
Fusion Protein
Description The fusion protein includes from N term to C term the AT hooks and the methyltransferase domain of MLL and the SAP domain and the C term nuclear localization domains of CIP29.
  

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

Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest.
Fukuda S, Pelus LM
Cellular and molecular life sciences : CMLS. 2005 ; 62 (13) : 1526-1527.
PMID 15924260
 
Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.
Fukuda S, Wu DW, Stark K, Pelus LM
Biochemical and biophysical research communications. 2002 ; 292 (3) : 593-600.
PMID 11922608
 
A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia.
Hashii Y, Kim JY, Sawada A, Tokimasa S, Hiroyuki F, Ohta H, Makiko K, Takihara Y, Ozono K, Hara J
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (9) : 1546-1548.
PMID 15284855
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;12)(q23;q13) MLL/CIP29
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):24-24.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1112q23q13MLLID1400.html


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

Genes KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;12)(q23;q13) KMT2A/SARNP

External links

KMT2A (11q23.3) SARNP (12q13.2)

Mitelman databaset(11;12)(q23;q13) [Case List]    t(11;12)(q23;q13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/SARNP KMT2A (11q23.3) SARNP (12q13.2)   [fusion1848]   [fusion1849]  
 
Disease databaset(11;12)(q23;q13) KMT2A/SARNP
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Nov 21 15:09:59 CET 2017


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