Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome
No Thumbnail Available
Authors
Bono, Elisa
McLornan, Donal
Travaglino, Erica
Gandhi, Shreyans
Gallì, Anna
Khan, Alesia Abigael
Kulasekararaj, Austin G.
Boveri, Emanuela
Raj, Kavita
Elena, Chiara
Check for full-text access
Issue Date
2019
Type
Article
Language
Keywords
Alternative Title
Abstract
Diagnostic criteria for hypoplastic myelodysplasic syndrome (h-MDS) have not been clearly established, making the differential diagnosis from other bone marrow failure syndromes (BMF) challenging. In this study, we aimed to delineate clinical, histopathological, and molecular features of h-MDS, based on a large and well-annotated cohort of patients with bone marrow (BM) hypocellularity. The study included 534 consecutive adult patients with hypocellular BM (278 h-MDS and 136 aplastic anemia), and 727 with normo- or hypercellular MDS (n-MDS). Comparison of clinical features of patients with h-MDS as defined by BM cellularity ≤25% (n = 204) or reduced age-adjusted cellularity (n = 74) did not reveal significant differences. We developed a diagnostic score to discriminate h-MDS from non-malignant BMF based on histological and cytological variables with the highest specificity for MDS (h-score). The information from chromosomal abnormalities and somatic mutation patterns was then integrated into a cyto-histological/genetic score (hg-score). This score was able to segregate two groups of h-MDS with a significantly different risk of blast progression (P < 0.001). The integration of cyto-histological and genetic features in adult patients with hypocellular BM facilitated segregation into two distinct groups, one with clinical and genetic features highly consistent with myeloid neoplasm, and one with features more consistent with non-malignant BMF.
Description
Citation
Publisher
License
Journal
Leukemia
Volume
33
Issue
10