INTRODUCTION: The 2016 World Health Organization (WHO) classification of myeloid neoplasms reclassified patients with myelodysplastic syndromes (MDS) with multilineage dysplasia (MLD) based on the presence or absence of ring sideroblasts (RS). We performed this study to validate this change in the context of relevant gene mutations. METHODS: WHO-defined MDS and MLD were identified with detailed clinical, cytogenetic and outcomes data. A 32-gene targeted exome sequencing panel was performed on bone marrow samples obtained at diagnosis. RESULTS: Ninety eight patients were included; 59 (60%) MDS-MLD and 39 (40%) MDS-RS-MLD. There were no significant differences in the median overall survival (OS) in the two groups (25 months each, p = 0.6). Among the myeloid-relevant gene mutations, presence of ASXL1 (HR 2.5, p = 0.005) was identified as an adverse prognostic factor in a multivariate analysis. CONCLUSION: While segregation of MDS-MLD based on RS holds little prognostic relevance, ASXL1 mutational status significantly and independently predicts poor outcomes.
INTRODUCTION: The 2016 World Health Organization (WHO) classification of myeloid neoplasms reclassified patients with myelodysplastic syndromes (MDS) with multilineage dysplasia (MLD) based on the presence or absence of ring sideroblasts (RS). We performed this study to validate this change in the context of relevant gene mutations. METHODS: WHO-defined MDS and MLD were identified with detailed clinical, cytogenetic and outcomes data. A 32-gene targeted exome sequencing panel was performed on bone marrow samples obtained at diagnosis. RESULTS: Ninety eight patients were included; 59 (60%) MDS-MLD and 39 (40%) MDS-RS-MLD. There were no significant differences in the median overall survival (OS) in the two groups (25 months each, p = 0.6). Among the myeloid-relevant gene mutations, presence of ASXL1 (HR 2.5, p = 0.005) was identified as an adverse prognostic factor in a multivariate analysis. CONCLUSION: While segregation of MDS-MLD based on RS holds little prognostic relevance, ASXL1 mutational status significantly and independently predicts poor outcomes.
Authors: Matilde Y Follo; Andrea Pellagatti; Richard N Armstrong; Stefano Ratti; Sara Mongiorgi; Sara De Fanti; Maria Teresa Bochicchio; Domenico Russo; Marco Gobbi; Maurizio Miglino; Sarah Parisi; Giovanni Martinelli; Michele Cavo; Donata Luiselli; James A McCubrey; Pann-Ghill Suh; Lucia Manzoli; Jacqueline Boultwood; Carlo Finelli; Lucio Cocco Journal: Leukemia Date: 2019-02-20 Impact factor: 11.528
Authors: Bruno Fattizzo; Giorgia Virginia Levati; Juri Alessandro Giannotta; Giulio Cassanello; Lilla Marcella Cro; Anna Zaninoni; Marzia Barbieri; Giorgio Alberto Croci; Nicoletta Revelli; Wilma Barcellini Journal: Front Oncol Date: 2022-03-22 Impact factor: 6.244