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Myelodysplastic syndromes (MDS)


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Myelodysplastic syndromes (MDS) are blood diseases caused by acquired abnormalities in bone marrow stem cells. In myelodysplastic syndromes bone marrow myeloid stem cells undergoes DNA damaging changes.
The damaged stem cell multiplies, generating abnormal (dysplastic) cells which cannot complete their maturation process to become blood cells or, in any case, cannot survive for long. This causes the blood to contain less white cells, red cells and/or platelets than it should. Pathologic cells of patients with MDS often contain genetic mutations, which can affect big DNA portions called chromosomes (loss or damage to chromosome 5, 7 or 20, presence of an additional chromosome 8) or smaller DNA portions, called genes (SF3B1, TET2, SRSF2, ASXL1 or TP53).
MDS causative agents are largely unknown. Their incidence increases with age and with exposure to toxic agents.
MDS are a group of very heterogenic disease for both clinical and biological behavior, so they require a classification that identifies patients with similar characteristics and prognosis. Classifications are constantly updated with newest knowledges.
The latest one is the World Health Organization classification reviewed in 2016. It is based on the number of immature cells (blasts) present in the bone marrow, on bone marrow dysplasia (inadequate maturation) and on peculiar cytogenetic abnormalities.
The more frequently used prognostic scores (which are are able to predict disease course) in myelodysplastic syndromes are WPSS (WHO classification base Prognostic Scoring System), IPSS (International Prognostic Score System) and IPSS-R (International Prognostic Score System Revised).
These systems classify patients in different risk groups with significantly different life expectancy and risk of progression to acute myeloid leukemia (AML).

The beginning of the disease may not be immediately evident. Usually, medical attention is raised by anemia, which can stay asymptomatic for some time, depending on how quickly the disease expands and on body adaptation to progressive hemoglobin reduction. At the time of the diagnosis neutropenia and severe thrombocytopenia, which often manifests with cutaneous hemorrhages (petechiae, hematomas), may be present as well. Other causes of anemia and cytopenia must be ruled out before diagnosing a myelodysplastic syndrome. Once secondary causes are excluded, bone marrow examination is performed to define the subtype of myelodysplastic syndrome.

Following are the necessary tests of a complete diagnosis:
  • full blood count;
  • dosing of erythropoietin (EPO) which helps choosing the anemia treatment;
  • optical microscope observation of blood and bone marrow cells is used to identify dysplastic cells, immature cells (blasts) and ring sideroblasts;
  • immunophenotyping is used to characterize proteins present in pathological cells;
  • cytogenetic analysis of chromosomes is used to find chromosomal alterations which strongly correlate with disease evolution;
  • DNA analysis is used to determine if all pathological cells are derived from a single damaged stem cell (clonality).
  • histopathology may help ruling out other cytopenia causes (aplastic anemia, lymphoproliferative disorders, etc) and informs on distribution and percentage of blasts, cellularity (hypoplastic subtypes) and bone marrow fibrosis.

Each year in Europe about 1 person on 12.500 gets a diagnosis of myelodysplastic syndrome. The disease is much more frequent in elderly people: above 70 years of age the incidence is 1 on 3000 people per year, while the disease is very rare below 60 years of age.

Before starting a treatment, patients with myelodysplastic syndromes often undergo an observation period, especially if they are elderly or in bad health condition or if there is uncertainty about the diagnosis.
In any case, treatment is started only when symptomatic anemia, neutropenia and thrombocytopenia begin. The treatment choice depends on patients (age, health condition) and disease (IPSS, WPSS) characteristics.
Therefore, their treatment may vary from just periodical observation to supportive care, hypomethylating agents or even intensive chemotherapy and allogenic bone marrow transplantation.
Moreover, many clinical trials on MDS are ongoing. Participating to a clinical trial might allow a patient to access treatments, which are not otherwise available and improves our capacity to cure these diseases.

REFERRING DOCTORS for this desease
at Ospedale San Raffaele

Ospedale San Raffaele - Milano, via Olgettina 60, 20132 Milano, Italia - Tel. 02 26 431
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