Diagnostic approach to myelodysplastic syndromes and related neoplasms. Issue 9 (September 2021)

• Record Type: Journal Article
• Authors: Ilenia Sangiorgio, Valentina Fabiola; Rizvi, Hasan; Calaminici, Maria
• Is Part Of: Diagnostic histopathology. Volume 27:Issue 9(2021)
• Page Start: 380
• Page End: 389
• Publication Date: 2021-09
• Subjects: acute myeloid leukaemia -- cytopenia -- myelodysplasia -- myelodysplastic syndromes; Histology, Pathological -- Periodicals; Cytodiagnosis -- Periodicals; Diagnosis, Laboratory -- Periodicals; Pathology -- Periodicals; Histopathologie -- Périodiques; Pathologie -- Périodiques; Cytodiagnostics -- Périodiques; Diagnostics biologiques -- Périodiques; Histologie -- Technique -- Périodiques; Electronic journals; 616.07582
• DOI: 10.1016/j.mpdhp.2021.06.004
• Languages: English
• ISSNs: 1756-2317

Abstract

Abstract: Myelodysplastic syndromes (MDS) are clonal disorders of the bone marrow characterized by ineffective haematopoiesis and an intrinsic predisposition to evolve into acute myeloid leukaemia. Impaired haematopoiesis manifests clinically with worsening cytopenia(s) responsible of patients' symptoms and morphologically with myelodysplasia and with the progressive accumulation of immature myeloid cells and blasts. Therefore, the diagnosis of MDS is always an integrated process which requires the combination of clinical and morphologic data. In recent years a larger body of knowledge has accumulated regarding the molecular events occurring in MDS, including chromosomal abnormalities and somatic gene mutations. So called "myeloid gene panels" and fluorescence in situ hybridization panels have joined conventional karyotyping in the diagnostic workup of MDS. None of these alterations is disease-specific; however, their identification supports the existence of a clonal disease, especially in cases with subtle dysplasia and/or mild cytopenia, and provides prognostic information for disease stratification and treatment.