IDH1 Mutation Is an Independent Inferior Prognostic Indicator for Patients with Myelodysplastic Syndromes

Background: Genomic sequencing technologies have identified isocitrate dehydrogenase (IDH) mutations in haematological malignancies. The prognostic implications of somaticIDH mutation (mIDH) in myelodysplastic syndromes (MDS) remain controversial.Methods: Mutations inIDH1 andIDH2were detected using genomic sequencing technologies in 97 patients with MDS.Results: Seven (7.2%) mutations were identified: 3 inIDH1 (all R132C) and 4 inIDH2 (3 R140Q and 1 R140L). The frequency of mutation was 16.6% (2/12) in refractory anaemia with excess blasts (RAEB)-1 and 14.7% (5/34) in RAEB-2.IDH1/2 mutations were closely associated with higher bone marrow blast counts (median 10.0 vs. 2.3%;p = 0.019) and lower absolute neutrophil counts (median 0.44 × 109/L vs. 1.21 × 109/L; p = 0.027). AllIDH mutations were mutually exclusive and heterozygous.IDH mutations were not significantly correlated with any specific karyotype. Patients withIDH1 mutations exhibited shorter overall and progression-free survival (OS and PFS;p = 0.039 andp = 0.042, respectively), whereasIDH2 mutations did not affect OS or PFS (p = 0.560 andp = 0.218, respectively). Multivariate analysis indicated thatIDH1 mutation (p = 0.018; hazard ratio [HR] 4.735; 95% confidence interval [CI] 1.299-17.264), karyotype risk (p = 0.036; HR 1.619; 95% CI 1.033-2.539) and the revised International Prognostic Scoring System risk category (p
Source: Acta Haematologica - Category: Hematology Source Type: research