期刊
NEOPLASIA
卷 23, 期 11, 页码 1101-1109出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neo.2021.09.002
关键词
Myelodysplastic syndrome; Clonal architecture; Clonal evolution; Residual disease; Molecular targets; Measurable residual disease
类别
Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders with diverse presentations. Approximately 90% of MDS patients have recurrent mutations, which may be useful for diagnosis, treatment, and prognosis. Early identification of these mutations may lead to earlier diagnosis.
Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders with heterogeneous presentation, ranging from indolent disease courses to aggressive diseases similar to acute myeloid leukemia (AML). Approximately 90% of MDS patients harbor recurrent mutations , which - with the exception of mutated SF3B1 -have not (yet) been included into the diagnostic criteria or risk stratification for MDS. Accumulating evidence suggests their utility for diagnostic workup, treatment indication and prognosis. Subsequently, in patients with unexplained cytopenia or dysplasia identification of these mutations may lead to earlier diagnosis. The acquisition and expansion of additional driver mutations usually antecedes further disease progression to higher risk MDS or secondary AML and thus, can be clinically helpful to detect individuals that may benefit from aggressive treatment approaches. Here, we review our current understanding of somatic gene mutations, gene expression patterns and flow cytometry regarding their relevance for disease evolution from pre-neoplastic states to MDS and potentially AML. Neoptasia (2021) 23, 1101-1109
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