In addition to basic studies in blood and bone marrow (morphology, count and immunophenotype) to perform in any hematological disease by the expert in hematology , cytogenetic studies (to detect specific chromosomal abnormalities) and molecular (to detect specific genetic alterations) are fundamental to define and classify the disease, and certain genetic or molecular alterations are accompanied by a higher or lower risk of disease progression or increased or decreased sensitivity to chemotherapy. Performing a bone marrow biopsy can provide some relevant, such as the presence or absence of data myelofibrosis.
Diagnostic tests of Myelodysplastic Syndrome
Thus, you can use the following tests and procedures:• Physical exam and history: An exam of the body to check general signs of health, check for signs of disease, even masses or something that seems unusual. medical history of past illnesses and treatments will also be taken.
• Complete blood count (CBC) with differential: A procedure in which a blood sample is taken to verify the following:or number of red blood cells and plateletsor Number and type of white blood cellsor amount of hemoglobin (the protein that carries oxygen) in red blood cellsor part of the sample of red blood cells.
• Complete blood count (CBC): blood is drawn by inserting a needle into the vein and drawing blood, making it flow into a tube. In the sample obtained red blood cells, and platelets are analyzed. It is useful to examine, diagnose and monitor many conditions.
• Peripheral blood smear: A procedure in which a blood sample in relation to changes in the quantity, type, shape and size of white blood cells and excessive amount of iron in red blood cells is analyzed.
• Cytogenetic analysis: A test in which cells in a sample of blood or bone marrow are viewed under a microscope to check for changes in the chromosomes.
• Blood chemistry studies: A blood sample is checked to measure the amounts of certain substances, such as vitamin B12 and folate, organs and tissues of the body released into the blood. A (higher or lower than normal) abnormal amount of a substance can be a sign of disease.
• aspiration and bone marrow biopsy: The removal of bone marrow, blood and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to check for abnormal cells.
In addition, you can perform the following tests on the tissue sample extracted:• Immunocytochemistry: test in which antibodies are used to identify certain antigens in a sample of bone marrow. This type of study is used to determine the difference between myelodysplastic syndromes, leukemia and other conditions.
• Immunophenotyping: process used to identify cells in accordance with the types of antigens or markers on the cell surface. This procedure is used to diagnose specific types of leukemia and other blood disorders, comparing the cancer cells to normal cells of the immune system.
• Flow cytometry test in which the number of cells in a sample, the percentage of living cells and certain cellular characteristics such as size, shape and the presence of tumor markers in the cell surface is measured. The cells are stained with light - sensitive dye are immersed in a liquid jet and passed by a laser or other light. The measurements are based on how the light sensitive dye reacts to this.
• FISH (fluorescent in situ hybridization) technique used to observe the genes or chromosomes in cells and tissues. Are added to the cells or tissues placed on a glass slide, DNA pieces produced in the laboratory, containing a fluorescent dye. When these pieces of DNA bind to specific genes or areas of chromosomes on the slide, these light when viewed under a microscope with a special light.
Treatment and Prognosis of Myelodysplastic Syndrome
The prognosis (chance of recovery) and treatment options depend on:• The number of blasts in the bone marrow.• If you are affected one or more types of blood cells.• If the patient has signs or symptoms of anemia, bleeding or infection.• If the patient has a low risk of leukemia.• Certain changes in the chromosomes.• If the myelodysplastic syndrome occurred after chemotherapy or radiotherapy for cancer.• The age and general health of the patient.
Treatment of Myelodysplastic Syndromes is highly variable from one patient to another and depend on the type of myelodysplastic syndrome and intensity of cytopenia, as well as the age and general condition of the patient. Cases with moderate cytopenia not usually require no treatment and may remain stable for years. In these patients it is sufficient to perform periodic analytical controls to monitor your progress.
The only treatment with curative intent in MDS is allogeneic bone marrow (family donor, unrelated or cord blood), but the advanced age of many patients and toxicity of procedure limit their use in young patients with myelodysplastic syndrome of poor prognosis, even if they have a compatible donor.
In patients nontax a bone marrow transplant requiring treatment should resort to the use of some of the following measures, all without healing ability:
- Blood transfusions or platelet. Most patients require regular transfusions to maintain the level of red blood cells and platelets. Although not cure the disease may relieve some symptoms and help improve the general state. To avoid the accumulation of iron in the body produced by red blood cell transfusions is advisable to associate iron chelating agents that favor their elimination. This measure is particularly relevant in young patients who may become candidates for a bone marrow transplant. Platelet transfusions are usually indicated only when the patient has evaluable bleeding. Prolonged use of prophylactic carries the risk of developing refractoriness (rapid destruction of administered platelets), limiting their effectiveness when necessary by bleeding occur.
- Growth. They own bodily substances synthesized in the laboratory and able to stimulate the production of blood cells. Most employees are erythropoietin (EPO), which increases the production of red blood cells (in up to 50% of patients) and thereby reduce anemia and transfusion requirement, and colony - stimulating factor (G- CSF), which increases the numbers of granulocytes and thereby reduce the risk of infections.
- Immunomodulators as lenalinomide, highly effective in patients with a syndrome 5q. In the rest of Myelodysplastic Syndromes improvement of anemia occurs in 45% of cases and transfusion independence in 25%.
- Immunosuppressive agents such as antithymocyte globulin (ATG) and cyclosporine that occasionally have been shown effective (30-40% Transfusion extended responses).
- Hypomethylating agents such as azacytidine, which achieved independence transfusion in 40-60% of patients, although these tend to be transient responses. Being cytotoxic agents may produce the opposite effect and worsen cytopenias.
- Chemotherapy. When the number of blasts values exceeds 10-20% in the bone marrow, SMD is becoming acute leukemia postmielodisplasia and, as such, must be treated. After receiving high - dose chemotherapy 40-60% of patients achieve a complete remission (apparent normality of the bone marrow microscopically observed with less than 5% blasts). However, this response is usually not lasting and side effects of chemotherapy are usually remarkable for elderly patients. That is why chemotherapy is generally reserved for patients with poor prognosis, who have a compatible donor for a bone marrow transplant, or those that have evolved to acute leukemia.
Edited by Patricia Crespo Pujante