title: Genomic arrays in chronic lymphocytic leukemia routine clinical practice: are we ready to substitute conventional cytogenetics and fluorescence in situ hybridization techniques?
abstract: Chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Del(11q) and del(17p), routinely studied by conventional G-banding cytogenetics (CGC) and fluorescence in situ hybridization (FISH), have been related to progression and shorter overall survival. Recently, array-based karyotyping has gained acceptance as a high-resolution new tool for detecting genomic imbalances. The aim of the present study was to compare genomic arrays with CGC and FISH to ascertain whether the current techniques could be substituted in routine procedures. We analyzed 70 patients with CLL using the Cytogenetics Whole-Genome 2.7M Array and CytoScan HD Array (Affymetrix), CGC and FISH with the classical CLL panel. Whereas 31.4% and 68.6% of patients presented abnormalities when studied by CGC and FISH, respectively, these rates increased when arrays were also analyzed (78.6% and 80%). Although abnormality detection is higher when arrays are applied, one case with del(11q) and three with del(17p) were missed by genomic arrays due to their limited sensitivity. We consider that the complete substitution of CGC and FISH by genomic arrays in routine laboratories could negatively affect the management of some patients harboring 11q or 17p deletions. In conclusion, genomic arrays are valid to detect known and novel genomic imbalances in CLL, but should be maintained as a complementary tool to the current techniques.
authors.affiliation: Programa de Recerca en Càncer, Grup de Recerca Translacional en Neoplàsies Hematològiques (GRETNHE), IMIM-Hospital del Mar, Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Puiggros
authors.forename: Eulàlia
authors.initials: E
authors.lastname: Puigdecanet
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Ana
authors.initials: A
authors.lastname: Ferrer
authors.forename: Eugènia
authors.initials: E
authors.lastname: Abella
authors.forename: Eva
authors.initials: E
authors.lastname: Gimeno
authors.forename: Lara
authors.initials: L
authors.lastname: Nonell
authors.forename: María José
authors.initials: MJ
authors.lastname: Herranz
authors.forename: Ana Belén
authors.initials: AB
authors.lastname: Galván
authors.forename: María
authors.initials: M
authors.lastname: Rodríguez-Rivera
authors.forename: Carme
authors.initials: C
authors.lastname: Melero
authors.forename: Silvia
authors.initials: S
authors.lastname: Pairet
authors.forename: Beatriz
authors.initials: B
authors.lastname: Bellosillo
authors.forename: Sergi
authors.initials: S
authors.lastname: Serrano
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D023281:Genomics / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis* / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged