Myelodysplastic Syndromes (MDS) – Myelodysplastic Syndrome – Updated 2020

Pathophysiology

Myelodysplastic syndromes result from clonal mutations in stem cells of the bone marrow. These mutations are caused either by genetic predisposition, exposure to certain substances, infections or radiation, or a combination of both. In some cases, myelodysplastic diseases are secondary to cancer treatment, especially in patients subject to radiation or alkylating agents.

The reduction of blood cell lines has various phases. In the early phase of the disease, it is caused by programmed cellular death. But as the myelodysplastic syndrome progresses, it may turn into leukemia, and the subsequent gene mutations cause a proliferation of aberrant cells in the bone marrow that takes the place of healthy cells and impairs their normal function.