title: Single nucleotide polymorphism array karyotyping: a diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytogenetic testing.
abstract: Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/high risk patients. We also saw differences in survival between very low/low/intermediate and the high/very high patients when we applied the revised IPSS (IPSS-R). In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients.
authors.affiliation: Laboratori de CitologiaHematològica. Laboratori de Citogenètica Molecular, Pathology Department, Hospital del Mar, GRETNHE, IMIM (Hospital del Mar ResearchInstitute), Barcelona, Spain.
authors.forename: Leonor
authors.initials: L
authors.lastname: Arenillas
authors.forename: Mar
authors.initials: M
authors.lastname: Mallo
authors.forename: Fernando
authors.initials: F
authors.lastname: Ramos
authors.forename: Kathryn
authors.initials: K
authors.lastname: Guinta
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
authors.forename: Eva
authors.initials: E
authors.lastname: Lumbreras
authors.forename: María-José
authors.initials: MJ
authors.lastname: Larráyoz
authors.forename: Raquel
authors.initials: R
authors.lastname: De Paz
authors.forename: Mar
authors.initials: M
authors.lastname: Tormo
authors.forename: María
authors.initials: M
authors.lastname: Abáigar
authors.forename: Carme
authors.initials: C
authors.lastname: Pedro
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Esperanza
authors.initials: E
authors.lastname: Such
authors.forename: María
authors.initials: M
authors.lastname: José Calasanz
authors.forename: María
authors.initials: M
authors.lastname: Díez-Campelo
authors.forename: Guillermo F
authors.initials: GF
authors.lastname: Sanz
authors.forename: Jesús María
authors.initials: JM
authors.lastname: Hernández
authors.forename: Elisa
authors.initials: E
authors.lastname: Luño
authors.forename: Sílvia
authors.initials: S
authors.lastname: Saumell
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Maciejewski
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis