4.2 Article

Pathophysiology of myelodysplastic syndromes

Journal

BULLETIN DU CANCER
Volume 110, Issue 11, Pages 1097-1105

Publisher

ELSEVIER MASSON, CORP OFF
DOI: 10.1016/j.bulcan.2023.02.026

Keywords

Myelodysplastic syndrome; Erythropoiesis; Mutation; Splicing; Translation

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During aging, low-frequency mutations in hematopoietic cells or clonal hematopoiesis contribute to the development of hematological diseases and cardiovascular diseases. Inflammation associated with age affects clonal evolution and immune response. In turn, mutated hematopoietic cells create an inflammatory bone marrow environment that facilitates their expansion, leading to diverse phenotypes.
During aging, the onset of mutations at low frequency in hematopoietic cells or clonal hematopoiesis of indeterminate significance favors the evolution towards hemopathies such as myelodysplastic syndromes or acute leukemias, but also cardiovascular diseases and other pathologies. Acute or chronic inflammation related to age influences the clonal evolution and the immune response. Conversely, mutated hematopoietic cells create an inflammatory bone marrow environment facilitating their expansion. Various pathophysiological mechanisms depending on the type of mutation produce the diversity of phenotypes. Identifying factors affecting clonal selection is mandatory to improve patient care.

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