Myelodysplastic Syndrome: Diagnosis and Screening

Abstract

Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of progression to acute myeloid leukemia (AML). In the past several years, diagnostic, prognostic, and therapeutic approaches have substantially improved with the development of Next Generation Sequencing (NGS) diagnostic testing and new medications. However, there is no single diagnostic parameter specific for MDS, and correlations with clinical information, and laboratory test findings are needed to reach the diagnosis.

The der(1;7)(q10;p10) defining a distinct profile from −7/del(7q) in myelodysplastic syndromes: A systematic review and meta‐analysis

“…In the 2022 WHO classification of MDS, 33 MDS‐5q, MDS‐ SF3B1 , and MDS‐bi TP53 have been classified as distinct subtypes based on their specific genetic features and associated clinical characteristics. Recently, more additional abnormal karyotypes and their corresponding clinical phenotypes have been identified in MDS patients 34,35 . The −7/del(7q) and der(1;7) abnormalities are both characterized by loss of 7q.…”

“…Recently, more additional abnormal karyotypes and their corresponding clinical phenotypes have been identified in MDS patients. 34 , 35 The −7/del(7q) and der(1;7) abnormalities are both characterized by loss of 7q. The −7/del(7q) abnormality is relatively common in MDS and is associated with increased myeloblasts and poor prognosis, 3 while der(1;7) is less common and its phenotypes in MDS are not well summarized.…”

Comparison of the 2022 world health organization classification and international consensus classification in myelodysplastic syndromes/neoplasms

“…Recently, major advances in molecular technology and the development of next-generation sequencing (NGS) have deepened our understanding of MDS pathobiology [ 7 , 8 ]. Revisions to the current classification system are needed for precise diagnosis, classification, and prognostication.…”

High Expression of ENO1 and Low Levels of Circulating Anti-ENO1 Autoantibodies in Patients with Myelodysplastic Neoplasms and Acute Myeloid Leukaemia

“…Acute myeloid leukaemia (AML) is the most common acute leukaemia affecting adults and has one of the poorest survival rates of all cancers with a median five year survival of just 24% [ 1 ]. The disease is often pre-cursed by myelodysplastic neoplasms (MDS), a heterogeneous group of clonal myeloid disorders characterised by cytopenia and dysplastic changes in bone marrow haematopoietic cells [ 2 ]. These diseases typically affect the elderly and carry a high risk of transformation to AML [ 3 ].…”