PMID- 17550852
OWN - NLM
STAT- MEDLINE
DCOM- 20070703
LR  - 20190608
IS  - 1592-8721 (Electronic)
IS  - 0390-6078 (Linking)
VI  - 92
IP  - 6
DP  - 2007 Jun
TI  - Multiple myeloma primary cells show a highly rearranged unbalanced genome with 
      amplifications and homozygous deletions irrespective of the presence of 
      immunoglobulin-related chromosome translocations.
PG  - 795-802
AB  - BACKGROUND AND OBJECTIVES: Multiple myeloma (MM) is a malignant plasma cell 
      neoplasia in which genetic studies have shown that genomic changes may affect 
      almost all chromosomes, as shown by fluorescence in situ hybridization (FISH) and 
      comparative genomic hybridization (CGH). Our objective was the genomic 
      characterization of CD 138 positive primary MM samples by means of a high 
      resolution array CGH platform. DESIGN AND METHODS: For the first time, a high 
      resolution array CGH with more than 40,000 probes, has been used to analyze 26 
      primary MM samples after the enrichment of CD138-positive plasma cells. RESULTS: 
      This approach identified copy number imbalances in all cases. Bioinformatics 
      strategies were optimized to perform data analysis allowing the segregation of 
      hyperdiploid and non-hyperdiploid cases by array CGH. Additional analysis showed 
      that structural chromosome rearrangements were more frequently seen in 
      hyperdiploid cases. We also identified the same Xq21 duplication in nearly 20% of 
      the cases, which originated through unbalanced chromosome translocations. High 
      level amplifications and homozygous deletions were recurrently observed in our 
      series and involved genes with meaningful function in cancer biology. 
      INTERPRETATION AND CONCLUSIONS: High resolution array CGH allowed us to identify 
      copy number changes in 100% of the primary MM samples. We segregated different MM 
      subgroups based on their genomic profiles which made it possible to identify 
      homozygous deletions and amplifications of great genetic relevance in MM.
FAU - Largo, Cristina
AU  - Largo C
AD  - Molecular Cytogenetics Group, Centro Nacional de Investigaciones Oncologicas, 
      Madrid, Spain.
FAU - Saez, Borja
AU  - Saez B
FAU - Alvarez, Sara
AU  - Alvarez S
FAU - Suela, Javier
AU  - Suela J
FAU - Ferreira, Bibiana
AU  - Ferreira B
FAU - Blesa, David
AU  - Blesa D
FAU - Prosper, Felipe
AU  - Prosper F
FAU - Calasanz, M Jose
AU  - Calasanz MJ
FAU - Cigudosa, Juan C
AU  - Cigudosa JC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 0 (Immunoglobulins)
RN  - 0 (Syndecan-1)
SB  - IM
MH  - Adult
MH  - Aged
MH  - *Chromosome Aberrations
MH  - Female
MH  - *Gene Dosage
MH  - Gene Rearrangement
MH  - Genome, Human
MH  - Humans
MH  - Immunoglobulins/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Myeloma/*genetics/*pathology
MH  - Oligonucleotide Array Sequence Analysis
MH  - Syndecan-1
MH  - Translocation, Genetic
EDAT- 2007/06/07 09:00
MHDA- 2007/07/04 09:00
CRDT- 2007/06/07 09:00
PHST- 2007/06/07 09:00 [pubmed]
PHST- 2007/07/04 09:00 [medline]
PHST- 2007/06/07 09:00 [entrez]
AID - 10.3324/haematol.11052 [doi]
PST - ppublish
SO  - Haematologica. 2007 Jun;92(6):795-802. doi: 10.3324/haematol.11052.