Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases.
BACKGROUND
Chromosome abnormalities are important prognostic factors in myeloma allowing risk stratification of patients. Different techniques are available for their detection including cytogenetics, Fluorescent In Situ Hybridisation (FISH) and array Competitive Genomic Hybridisation (CGH). This study aimed to assess the validity and usefulness of each technique in a diagnostic setting.


METHODS
112 myeloma cases were analysed by whole bone marrow cytogenetics and by FISH and array CGH performed on purified plasma cell populations.


RESULTS
Clonal abnormalities were identified in 30% of cases by cytogenetics and 97% by FISH and array CGH. By combining array and FISH results abnormalities were detected in 99% of cases and, if cytogenetic analysis was also considered, abnormalities were detected in 100% of cases.


CONCLUSIONS
Cytogenetic analysis is of limited value in myeloma. Array CGH and FISH are highly specific tests allowing the identification of aberrations in virtually all cases. The two techniques are complementary and need to be combined in order to provide a comprehensive analysis of all clinically relevant aberrations in myeloma.
Centre of Human Genetics, Institut de Pathologie et de Genetique, Gosselies, Belgium.
Katrina
K
Rack
Centre of Human Genetics, Institut de Pathologie et de Genetique, Gosselies, Belgium.
Sébastien
S
Vidrequin
Department of Pathology, Institut de Pathologie et de Genetique, Gosselies, Belgium.
Jean-Louis
JL
Dargent
D014408:Biomarkers, Tumor / Q000235:genetics*; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D056915:DNA Copy Number Variations; D020869:Gene Expression Profiling / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011003:Ploidies; D011237:Predictive Value of Tests; D014178:Translocation, Genetic
D014408:Biomarkers, Tumor
ANALYTICAL METHODS; CYTOGENETICS; FISH; MICRO ARRAY; MYELOMA