STANDARD_NAME	HASLINGER_B_CLL_WITH_17P13_DELETION
SYSTEMATIC_NAME	M3256
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HASLINGER_B_CLL_WITH_17P13_DELETION
NAMESPACE	HUMAN_GENE_SYMBOL
DESCRIPTION_BRIEF	Genes changed in the B cell chronic lymphocytic leukemia (B-CLL) with deletions in the 17p13 region.
DESCRIPTION_FULL	PURPOSE: Genomic aberrations and mutational status of the immunoglobulin variable heavy chain (VH) gene have been shown to be among the most important predictors for outcome in patients with B-cell chronic lymphocytic leukemia (B-CLL). In this study, we report on differential gene expression patterns that are characteristic for genetically defined B-CLL subtypes. MATERIALS AND METHODS: One hundred genetically well-characterized B-CLL samples, together with 11 healthy control samples, were analyzed using oligonucleotide arrays, which test for the expression of some 12,000 human genes. RESULTS: Aiming at microarray-based subclassification, class predictors were constructed using sets of differentially expressed genes, which yielded in zero or low misclassification rates. Furthermore, a significant number of the differentially expressed genes clustered in chromosomal regions affected by the respective genomic losses/gains. Deletions affecting chromosome bands 11q22-q23 and 17p13 led to a reduced expression of the corresponding genes, such as ATM and p53, while trisomy 12 resulted in the upregulation of genes mapping to chromosome arm 12q. Using an unsupervised analysis algorithm, expression profiling allowed partitioning into predominantly VH-mutated versus unmutated patient groups; however, association of the expression profile with the VH mutational status could only be detected in male patients. CONCLUSION: The finding that the most significantly differentially expressed genes are located in the corresponding aberrant chromosomal regions indicates that a gene dosage effect may exert a pathogenic role in B-CLL. The significant difference in the partitioning of male and female B-CLL samples suggests that the genomic signature for the VH mutational status might be sex-related.
PMID	15459216
GEOID	GSE2466
AUTHORS	Haslinger C,Schweifer N,Stilgenbauer S,Döhner H,Lichter P,Kraut N,Stratowa C,Abseher R
CONTRIBUTOR	Kevin Vogelsang
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 3: 17p13
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	ASMTL,CENTR1,EIF4A1,FXR2,GABARAP,GEMIN4,GNAI2,GPS2,HNRPDL,KIAA0399,KIAA1055,LOC51031,MAPRE3,MINK,PLD2,PRDX4,PRP8,RYR1,SCP2,SENP3,TC21,TP53,TRN-SR,VDAC1
GENE_SYMBOLS	ASMTL,,EIF4A1,FXR2,GABARAP,GEMIN4,GNAI2,GPS2,HNRNPDL,ZZEF1,TBC1D2B,GLOD4,MAPRE3,MINK1,PLD2,PRDX4,,RYR1,SCP2,SENP3,RRAS2,TP53,TNPO3,VDAC1
FOUNDER_NAMES