title: WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations.
abstract: The 2008 World Health Organization (WHO) criteria were used to identify 88 consecutive Mayo Clinic patients with 'myelodysplastic syndrome with isolated del(5q)' (median age 74 years; 60 females). In all, 60 (68%) patients were followed up to the time of their death. Overall median survival was 66 months; leukemic transformation was documented in five (5.7%) cases. Multivariable analysis identified age >or=70 years (P=0.01), transfusion need at diagnosis (P=0.04) and dysgranulopoiesis (P=0.02) as independent predictors of shortened survival; the presence of zero (low risk), one (intermediate risk) or >or=2 (high risk) risk factors corresponded to median survivals of 102, 52 and 27 months, respectively. Janus kinase 2 (JAK2), thrombopoietin receptor (MPL), isocitrate dehydrogenase 1 (IDH1) and IDH2 mutational analysis was performed on archived bone marrows in 78 patients; JAK2V617F and MPLW515L mutations were shown in five (6.4%) and three (3.8%) patients, respectively, and did not seem to affect phenotype or prognosis. IDH mutations were not detected. Survival was not affected by serum ferritin and there were no instances of death directly related to iron overload. The current study is unique in its strict adherence to WHO criteria for selecting study patients and providing information on long-term survival, practical prognostic factors, baseline risk of leukemic transformation and the prevalence of JAK2, MPL and IDH mutations.
authors.affiliation: Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: M M
authors.initials: MM
authors.lastname: Patnaik
authors.forename: T L
authors.initials: TL
authors.lastname: Lasho
authors.forename: C M
authors.initials: CM
authors.lastname: Finke
authors.forename: N
authors.initials: N
authors.lastname: Gangat
authors.forename: D
authors.initials: D
authors.lastname: Caramazza
authors.forename: S G
authors.initials: SG
authors.lastname: Holtan
authors.forename: A
authors.initials: A
authors.lastname: Pardanani
authors.forename: R A
authors.initials: RA
authors.lastname: Knudson
authors.forename: R P
authors.initials: RP
authors.lastname: Ketterling
authors.forename: D
authors.initials: D
authors.lastname: Chen
authors.forename: J D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: C A
authors.initials: CA
authors.lastname: Hanson
authors.forename: A
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002471:Cell Transformation, Neoplastic; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D016133:Polymerase Chain Reaction; D011379:Prognosis; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D015996:Survival Rate; D014944:World Health Organization
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2