Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome

Elisa Bono, Donal McLornan, Erica Travaglino, Shreyans Gandhi, Anna Gallì, Alesia Abigael Khan, Austin G. Kulasekararaj, Emanuela Boveri, Kavita Raj, Chiara Elena, Robin M. Ireland, Antonio Bianchessi, Jie Jiang, Gabriele Todisco, Virginia Valeria Ferretti, Mario Cazzola, Judith C.W. Marsh, Luca Malcovati, Ghulam J. Mufti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Publication statusPublished - Jan 1 2019

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


Dive into the research topics of 'Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome'. Together they form a unique fingerprint.

Cite this