Myelodysplastic syndrome

Dysplastic megakaryocyte in marrow of patient with myelodysplastic disorder (4130648491)

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Myelodysplastic Syndrome (MDS) is a group of diverse bone marrow disorders in which the bone marrow does not produce enough healthy blood cells. MDS is often referred to as a "bone marrow failure disorder". MDS is primarily a disease of the elderly (most patients are older than age 70), but younger patients may also be diagnosed with the disease.

Definition

MDS are a group of clonal hematopoietic disorders characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the World Health Organization (WHO) guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia (AML). MDS can occur de novo, or as a result of exposure to alkylating agents and/or radiotherapy.

Classification

MDS is classified by the World Health Organization (WHO) based on various factors, including the percentage of blasts in the bone marrow or blood, the type of cells affected, and chromosomal abnormalities. The classifications are:

• MDS with single lineage dysplasia (MDS-SLD)
• MDS with multilineage dysplasia (MDS-MLD)
• MDS with ring sideroblasts (MDS-RS)
• MDS with excess blasts (MDS-EB)
• MDS with isolated del(5q)
• MDS, unclassifiable (MDS-U)
• MDS associated with isolated del(5q)

Signs and Symptoms

The signs and symptoms of MDS are often non-specific and are related to the low blood counts (cytopenias) that are a hallmark of the disease. Common symptoms include fatigue, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and bone pain.

Causes and Risk Factors

The exact cause of MDS is unknown. However, certain factors are known to increase the risk of developing the disease. These include previous treatment with chemotherapy or radiation therapy, exposure to certain chemicals (such as tobacco smoke, pesticides, and benzene), and certain blood disorders.

Diagnosis

Tumor Myelodysplastic Spleen

Diagnosis of MDS typically involves a complete blood count (CBC), a bone marrow biopsy, and cytogenetic analysis to look for chromosomal abnormalities. Other tests may be performed depending on the suspected subtype of MDS.

Treatment

Treatment for MDS depends on the subtype of MDS, the patient's overall health, and the patient's personal preferences. Treatment options may include supportive care (such as blood transfusions and medications to increase blood cell counts), drug therapy, and in some cases, stem cell transplantation.

Prognosis

The prognosis of MDS can vary widely, depending on the subtype of MDS and other individual factors. Some people with MDS can have a good prognosis with treatment, while others may progress to AML.

Epidemiology

MDS is primarily a disease of the elderly, with most patients being older than 70 at the time of diagnosis. However, it can occur in younger patients as well. The incidence of MDS is estimated to be between 3 and 4 cases per 100,000 people in the general population, but this rises to over 30 cases per 100,000 in individuals over the age of 70.

Prevention and Management

Prevention of MDS involves reducing exposure to known risk factors, such as tobacco smoke, certain chemicals, and unnecessary radiation exposure. Once diagnosed, management of MDS often involves a combination of therapies to control symptoms and slow disease progression.

Research Directions

Research into MDS is ongoing, with scientists trying to better understand the genetic mutations that lead to the disease, as well as developing more effective treatments. This includes the study of targeted therapies that can specifically attack cancer cells without harming healthy cells.

See Also

• Acute Myeloid Leukemia
• Bone Marrow Transplant
• Hematology
• Cytogenetics

External links

• National Cancer Institute - Myelodysplastic Syndromes Treatment
• The Myelodysplastic Syndromes Foundation

References

• Nimer SD. Myelodysplastic syndromes. Blood. 2008 May 1;111(9):4841-51.
• Garcia-Manero G. Myelodysplastic syndromes: 2015 Update on diagnosis, risk-stratification and management. American Journal of Hematology. 2015 Aug;90(8):831-41.
• Shaffer, James. "Myelodysplastic Syndrome." Hematology and Oncology Clinics, vol. 28, no. 6, 2014, pp. 1-18.

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