Contributions
Abstract: PB1929
Type: Publication Only
Background
Myelodysplastic syndrome (MDS) constitutes a heterogeneous group of hematopoietic stem cell disorders, characterized by peripheral blood cytopenias in the presence of a dysplastic and hypercellular bone marrow. This biological heterogeneity is reflected in the clinical course, ranging from an indolent disease to entities with high risk of progression to AML and dismal prognosis.
Aims
Our aim was to search for genetic mutations in a cohort of patients with MDS.
Methods
We studied a total of 33 patients diagnosed with de novo MDS (WHO 2008 classification), using a Next Generation Sequencing panel comprising 45 myeloid genes.
Results
Patients were 15 male and 18 female, with a median age at diagnosis of 76 years (52 – 93 years). The MDS subtypes distribution was 16 patients (48,5%) with RCMD, 4 patients with RARS, 4 with RAEB -1 and 4 with RAEB-2 (12,1% for each subtype), 3 patients (9,1%) with 5q-Syndrome and 2 patients (6,1%) with RCUD. These patients were stratified according to the IPSS as Low-risk (24,2%), Int-1 (33,3%) and Int-2 (18,2%), without any high-risk patients. All patients required erythropoiesis stimulating agents and 9 patients received treatment with azacytidine (AZA), including all the Int-2 patients and 3 lower risk patients who progressed to a higher risk MDS. Estimated cumulative survival at 46 months was 67% with a median OS not reached and median follow-up time of 34 months. Patients receiving AZA revealed a trend towards survival benefit (mean survival 54,2 vs 50 months), independent of IPSS and R-IPSS, but not statistically significant.
Conclusion
We conclude that the most frequently detected mutations were related to DNA methylation genes, as described in the literature, which was independent of the IPSS risk group, being observed in both low-risk and high-risk patients. These results raise the question whether hypomethylating agents may also be of benefit for lower-risk patients.
Session topic: 10. Myelodysplastic syndromes - Clinical
Keyword(s): Signal transduction, mutation analysis, Methylation, MDS
Abstract: PB1929
Type: Publication Only
Background
Myelodysplastic syndrome (MDS) constitutes a heterogeneous group of hematopoietic stem cell disorders, characterized by peripheral blood cytopenias in the presence of a dysplastic and hypercellular bone marrow. This biological heterogeneity is reflected in the clinical course, ranging from an indolent disease to entities with high risk of progression to AML and dismal prognosis.
Aims
Our aim was to search for genetic mutations in a cohort of patients with MDS.
Methods
We studied a total of 33 patients diagnosed with de novo MDS (WHO 2008 classification), using a Next Generation Sequencing panel comprising 45 myeloid genes.
Results
Patients were 15 male and 18 female, with a median age at diagnosis of 76 years (52 – 93 years). The MDS subtypes distribution was 16 patients (48,5%) with RCMD, 4 patients with RARS, 4 with RAEB -1 and 4 with RAEB-2 (12,1% for each subtype), 3 patients (9,1%) with 5q-Syndrome and 2 patients (6,1%) with RCUD. These patients were stratified according to the IPSS as Low-risk (24,2%), Int-1 (33,3%) and Int-2 (18,2%), without any high-risk patients. All patients required erythropoiesis stimulating agents and 9 patients received treatment with azacytidine (AZA), including all the Int-2 patients and 3 lower risk patients who progressed to a higher risk MDS. Estimated cumulative survival at 46 months was 67% with a median OS not reached and median follow-up time of 34 months. Patients receiving AZA revealed a trend towards survival benefit (mean survival 54,2 vs 50 months), independent of IPSS and R-IPSS, but not statistically significant.
Conclusion
We conclude that the most frequently detected mutations were related to DNA methylation genes, as described in the literature, which was independent of the IPSS risk group, being observed in both low-risk and high-risk patients. These results raise the question whether hypomethylating agents may also be of benefit for lower-risk patients.
Session topic: 10. Myelodysplastic syndromes - Clinical
Keyword(s): Signal transduction, mutation analysis, Methylation, MDS