title: Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.
abstract: This study evaluates the incidence and prognostic impact of aberrant methylation of 25 tumor suppressor genes in 40 patients with RARS, a MDS subtype, by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Methylation of at least one gene was detected in 18 patients (45%). The genes methylated were CDKN2B (20%), RASSF1 (18%), RARB (10%), CDH13 (7.5%) and FHIT (5%). Patients with at least one methylated gene had a significantly shorter OS than patients without methylated genes. Aberrant methylation is a frequent event in patients with RARS as in patients with high-risk MDS appears to confer a worse prognosis.
authors.affiliation: Department of Hematology, Hospital Universitario La Fe, Avda. Campanar 21, 46009 Valencia, Spain. valencia ana@gva.es
authors.forename: Ana
authors.initials: A
authors.lastname: Valencia
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Esperanza
authors.initials: E
authors.lastname: Such
authors.forename: Mariam
authors.initials: M
authors.lastname: Ibañez
authors.forename: Inés
authors.initials: I
authors.lastname: Gómez
authors.forename: Irene
authors.initials: I
authors.lastname: Luna
authors.forename: Leonor
authors.initials: L
authors.lastname: Senent
authors.forename: Silvestre
authors.initials: S
authors.lastname: Oltra
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Sanz
authors.forename: Guillermo F
authors.initials: GF
authors.lastname: Sanz
mesh_terms: D017766:Acid Anhydride Hydrolases / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000753:Anemia, Refractory / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics; D019175:DNA Methylation; D005260:Female; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009363:Neoplasm Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D011379:Prognosis; D018168:Receptors, Retinoic Acid / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D000099170:Bis(5'-adenosyl)triphosphatase
chemical_list: D017766:Acid Anhydride Hydrolases; D050762:Cyclin-Dependent Kinase Inhibitor p15; D009363:Neoplasm Proteins; D018168:Receptors, Retinoic Acid; D025521:Tumor Suppressor Proteins; D000099170:Bis(5'-adenosyl)triphosphatase; C493966:CDKN2B protein, human; C411762:RASSF1 protein, human; C082925:retinoic acid receptor beta