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P088 | the Role of Morphology in Diagnosing Mds With Non-clonal Cytopenias

Year: 2025

Type: article

Abstract: Myelodysplastic syndromes/neoplasms (MDS) are a heterogeneous group of blood disorders characterized by distinctive biological and clinical features. Diagnosis typically relies on bone marrow examination and cytogenetic/molecular analysis. However, a small subset of patients lacks detectable cytogenetic or genetic abnormalities, making diagnosis challenging and reliant solely on marrow dysplasia and cytopenia. Here, we conducted a multicenter retrospective study investigating the clinical and hematological features of patients with MDS lacking detectable cytogenetic or molecular alterations. From a cohort of 329 MDS patients who underwent genetic testing at our laboratory of “Diagnostica Avanzata Oncoematologica”, we selected 62 patients presenting with unexplained cytopenia, suspected MDS, and a non-informative cytogenomic profile. Of these, 26 were ultimately diagnosed with alternative conditions such as aplastic anemia, drug/radiation toxicity, multiple myeloma, and others. The patients with non-informative genetic profile had a median age of 60 years and a female predominance (67%). Autoimmune diseases (AD) were the most frequently observed comorbidities (26%), and neutropenia was the most common type of cytopenia (56%), followed by thrombocytopenia (22%), and anemia (19%). Most patients had bi-lineage or tri-lineage dysplasia, and had low-risk disease according to IPSS-R and IPSS-M. Only one patient progressed to AML at a median follow-up of 12 months (IQR for the test cohort: 2-25). MDS lacking classical myeloid clonal alteration represent a unique clinical-biological subtype whereby marrow assessment along with a thorough clinical workup is crucial.

Source: DOAJ (DOAJ: Directory of Open Access Journals)

Authors: G.E. Trotta, E. Santinelli, S. Mariani, K. Paciaroni, T. Caravita Di Toritto, N. Cenfra, S. Fenu, P. Ricci, L. Maurillo, F. Moretti, E. Fabiani, C. Gurnari, M.T. Voso

Institutions: University of Rome Tor Vergata, Sapienza University of Rome, ASL Roma, Ospedale Santa Maria Goretti, Azienda Ospedaliera San Giovanni Addolorata

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7093122534

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