title: Combined assessment of WT1 and BAALC gene expression at diagnosis may improve leukemia-free survival prediction in patients with myelodysplastic syndromes.
abstract: Several genes with relevant pathogenetic and prognostic value have been identified in patients with myelodysplastic syndromes. Overexpression of WT1 at diagnosis has been associated with increased progression to acute myeloid leukemia and reduced leukemia free survival. Conversely, few data are available on the prognostic value of BAALC gene overexpression in AML and MDS patients. We evaluated the prognostic value of the combined expression of WT1 and BAALC genes at diagnosis in 86 MDS patients who had been stratified according to IPSS and R-IPSS scoring systems. Our results suggest that in the whole group of patients, low levels of both WT1 and BAALC were associated with a favorable outcome (3-year LFS 74.5%, median not reached), whereas patients presenting high expression levels of both genes had the worst prognosis (3-year LFS 0%, median 12 months, p<0.001). More specifically, molecular profiling was especially useful for intermediate 1 and intermediate-2/high risk groups. This study suggests that evaluating WT1 and BAALC gene expression at diagnosis may improve standard risk stratification and possibly refine the therapeutic approach for MDS patients.
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy. Electronic address: dr.paolaminetto@gmail.com.
authors.forename: Paola
authors.initials: P
authors.lastname: Minetto
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Guolo
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Marino
authors.initials: M
authors.lastname: Clavio
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: De Astis
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Colombo
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Grasso
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fugazza
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sessarego
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Roberto Massimo
authors.initials: RM
authors.lastname: Lemoli
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Gobbi
authors.affiliation: Chair of Hematology, Department of Internal Medicine (DiMI), University of Genoa, IRCCS AOU S Martino - IST, Genoa, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Miglino
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D018450:Disease Progression; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D009363:Neoplasm Proteins / Q000235:genetics*; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis; D059467:Transcriptome; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: C442828:BAALC protein, human; D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D025721:WT1 Proteins; C583751:WT1 protein, human
keywords: BAALC; Leukemia-free survival; MDS; Molecular analysis; Risk stratification; WT1