Document Detail

A novel infant acute lymphoblastic leukemia cell line with MLL-AF5q31 fusion transcript.
MedLine Citation:
PMID:  12399976     Owner:  NLM     Status:  MEDLINE    
Infant acute lymphoblastic leukemia (ALL) is characterized by the presence of the proB phenotype (CD10(-)/CD19(+)), poor prognosis and frequent rearrangement of the mixed lineage leukemia (MLL) gene. The most frequent rearrangement is t(4;11)(q21;q23), the role of whose product, the MLL-AF4 fusion transcript, has been extensively studied in leukemogenesis. In a cell line of infant leukemia with MLL rearrangement denoted KP-L-RY, panhandle PCR amplification of cDNA revealed the presence of a fusion transcript, MLL-AF5q31, indicating that AF5q31 is also a partner gene of MLL. In this fusion transcript the MLL exon 6 is fused in frame to the 5' side of the putative transactivation domain of AF5q31. The AF5q31 protein is a member of the AF4/LAF4/FMR2-related family of proteins, which have been suggested to play a role in hematopoietic cell growth and differentiation. The MLL-AF5q31 fusion transcript, although probably rare, appears to be associated with the pathogenesis of infant ALL like MLL-AF4. Co-expression of HoxA9 and Meis1 genes in the KP-L-RY cell line indicated possible functional similarity between MLL-AF4 and MLL-AF5q31. Further understanding of the function of AF5q31 as well as the specific leukemogenic mechanism of MLL-AF5q31 awaits future studies.
T Imamura; A Morimoto; S Ikushima; N Kakazu; S Hada; Y Tabata; T Yagi; T Inaba; S Hibi; T Sugimoto; S Imashuku
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Leukemia     Volume:  16     ISSN:  0887-6924     ISO Abbreviation:  Leukemia     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-25     Completed Date:  2002-12-02     Revised Date:  2013-03-04    
Medline Journal Info:
Nlm Unique ID:  8704895     Medline TA:  Leukemia     Country:  England    
Other Details:
Languages:  eng     Pagination:  2302-8     Citation Subset:  IM    
Department of Pediatrics, Kyoto Prefectural University of Medicine, Japan.
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MeSH Terms
Acute Disease
Artificial Gene Fusion
Blotting, Southern
Cell Line
Chromosome Mapping
Chromosomes, Human, Pair 11 / genetics
Chromosomes, Human, Pair 4 / genetics
DNA Primers / chemistry
DNA, Neoplasm / analysis
Homeodomain Proteins / genetics,  metabolism
In Situ Hybridization, Fluorescence
Myeloid-Lymphoid Leukemia Protein
Neoplasm Proteins / genetics*,  metabolism
Oncogene Proteins, Fusion / genetics*
Polymerase Chain Reaction
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Translocation, Genetic
Tumor Markers, Biological / genetics*
Reg. No./Substance:
0/DNA Primers; 0/DNA, Neoplasm; 0/Homeodomain Proteins; 0/MLL-AF4 fusion protein, human; 0/Neoplasm Proteins; 0/Oncogene Proteins, Fusion; 0/Tumor Markers, Biological; 0/homeobox protein HOXA9; 0/myeloid ecotropic viral integration site 1 protein; 149025-06-9/Myeloid-Lymphoid Leukemia Protein

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