Document Detail

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.
MedLine Citation:
PMID:  19480937     Owner:  NLM     Status:  MEDLINE    
In T-cell prolymphocytic leukemia (T-PLL), chromosomal imbalances affecting the long arm of chromosome 22 are regarded as typical chromosomal aberrations secondary to a TCRAD-TCL1A fusion due to inv(14) or t(14;14). We analyzed recently obtained data from conventional karyotyping, SNP-chip array copy number mapping, genome-wide expression profiling, and interphase fluorescence in situ hybridization (FISH) of inv(14)-positive T-PLL with respect to structural aberrations on chromosome 22. Combined gene chip and interphase FISH analyses revealed interstitial deletions on 22q in 4 of 12 cases, with one case additionally showing a terminal copy number gain. A minimally deleted region of approximately 9.1 Mb was delineated, from 16.2 Mb (22cen) to 25.3 Mb (22q12.1). The distal borders of copy number alterations spread over a region of approximately 8.8 Mb, from 25.2 Mb (22q12.1) to 34 Mb (22q12.3). Mutation screening of candidate tumor suppressor genes SMARCB1 and CHEK2 mapping to the minimally deleted and the breakpoint regions, respectively, in cases with hemizygous deletion, revealed no inactivating mutations. With gene expression profiling, no significantly downregulated genes were identified in the minimally deleted region. We therefore assume that haploinsufficiency or alternative pathomechanisms underlie chromosome 22 aberrations in T-PLL.
Stefanie Bug; Jan Dürig; Florian Oyen; Ludger Klein-Hitpass; Jose I Martin-Subero; Lana Harder; Michael Baudis; Norbert Arnold; Uwe Kordes; Ulrich Dührsen; Reinhard Schneppenheim; Reiner Siebert
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  192     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-06-01     Completed Date:  2009-06-15     Revised Date:  2011-11-02    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  44-7     Citation Subset:  IM    
Institute of Human Genetics, Christian-Albrechts University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
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MeSH Terms
Chromosomal Proteins, Non-Histone / genetics*
Comparative Genomic Hybridization
DNA Mutational Analysis
DNA-Binding Proteins / genetics*
Gene Deletion*
Gene Frequency
Genes, Tumor Suppressor / physiology
Genetic Testing
Leukemia, Prolymphocytic, T-Cell / genetics*
Mutation / physiology
Protein-Serine-Threonine Kinases / genetics*
Proto-Oncogene Proteins / genetics*
Transcription Factors / genetics*
Reg. No./Substance:
0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/Proto-Oncogene Proteins; 0/SMARCB1 protein, human; 0/TCL1A protein, human; 0/Transcription Factors; EC kinase 2; EC Kinases

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