title: Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q: clinicopathologic correlations and new insights from the pre-lenalidomide era.
abstract: To better estimate prognosis for patients with myelodysplastic syndromes (MDS) associated with clonal interstitial deletions of the long arm of chromosome 5 (del(5q)), we reviewed the medical records of 130 adults with del(5q) MDS seen at our institution over a 15-year period. Overall median survival of this cohort was 9.5 months, shorter than reported in earlier series. The least favorable outcomes are associated with complex cytogenetics, lack of any normal metaphases, normocytic rather than macrocytic erythrocyte indices, and low baseline lymphocyte counts. Lymphopenia but not neutropenia at the time of diagnosis appears to be a new adverse prognostic indicator. Cytogenetic breakpoints defined by G-banded karyotyping correlate poorly with particular disease features. Surprisingly, survival of patients with treatment-related MDS was equivalent to that of de novo MDS with del(5q) in this series. Morphologic features associated with del(5q) are diverse. Most patients with del(5q) MDS do not meet criteria for WHO-defined 5q-syndrome, and the presence of del(5q) does not appear to modify the clinical phenotype otherwise risk-stratified by the International Prognostic Scoring System (IPSS). Additional important prognostic factors not taken into account by the IPSS include the baseline erythrocyte indices, lymphocyte count, and clonal burden.
authors.affiliation: Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Shernan G
authors.initials: SG
authors.lastname: Holtan
authors.forename: Rafael
authors.initials: R
authors.lastname: Santana-Davila
authors.forename: Gordon W
authors.initials: GW
authors.lastname: Dewald
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Khetterling
authors.forename: Ryan A
authors.initials: RA
authors.lastname: Knudson
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Dong
authors.initials: D
authors.lastname: Chen
authors.forename: Curtis A
authors.initials: CA
authors.lastname: Hanson
authors.forename: Luis
authors.initials: L
authors.lastname: Porrata
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.forename: David P
authors.initials: DP
authors.lastname: Steensma
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D002999:Clone Cells / Q000473:pathology; D015331:Cohort Studies; D004909:Erythrocyte Indices; D005260:Female; D006801:Humans; D007951:Leukemia, Myeloid / Q000453:epidemiology / Q000209:etiology; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D008910:Minnesota / Q000453:epidemiology; D009190:Myelodysplastic Syndromes / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis; D016896:Treatment Outcome