Disease overview: The myelodysplastic syndromes myelodysplastic syndromes: (my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone marrow does not work well, and the bone marrow cells fail to make enough healthy blood cells. Myelo refers to the bone marrow. Dysplastic means abnormal growth or development. People with MDS have low blood cell count for at… (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia acute myelogenous leukemia: (uh-KYOOT my-uh-LAH-juh-nuss loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows production of red blood cells and platelets. Some cases of… (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
Diagnosis: Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry flow cytometry: (sy-TOM-uh-tree) A laboratory test that gives information about cells, such as size, shape, and percentage of live cells. Flow cytometry is the test doctors use to see if there are any proteins missing from the surface of blood cells. It is the standard test for confirming a diagnosis of paroxysmal… , and molecular genetics is usually complementary and may help refine diagnosis. A new WHO classification of MDS was proposed in 2022. Under this classification, MDS is now termed myelodysplastic neoplasms.
Risk-stratification: Prognosis of patients with MDS can be calculated using a number of scoring systems. All these scoring systems include analysis of peripheral cytopenias, percentage of blasts blasts: See Blast Cells. in the bone marrow, and cytogenetic characteristics. The most commonly accepted system is the Revised International Prognostic Scoring System International Prognostic Scoring System: A system that turns patient data into a score. The score tells how quickly a myelodysplastic syndrome (MDS) case is progressing and helps predict what may happen with the patient's MDS in the future. Also called IPSS. (IPSS-R). Recently, genomic data has been incorporated resulting in the new IPSS-M classification.
Risk-adapted therapy: Therapy is selected based on risk, transfusion needs, percent of bone marrow blasts, cytogenetic and mutational profiles, comorbidities, potential for allogeneic stem cell transplantation (alloSCT), and prior exposure to hypomethylating agents (HMA). Goals of therapy are different in lower risk patients than in higher risk and in those with HMA failure. In lower risk, the goal is to decrease transfusion needs and transformation to higher risk disease or AML, as well as to improve survival. In higher risk, the goal is to prolong survival. In 2020, two agents were approved in the US for patients with MDS: luspatercept and oral decitabine decitabine: It works by reducing the amount of methylation in the body. Methylation is a process that acts like a switch to turn off or “silence” genes in certain cells. When these genes (called tumor suppressor genes) are turned off, MDS cells and cancer cells can grow freely. Decitabine is approved by the U… /cedazuridine. In addition, currently other available therapies include growth factors growth factors: Growth factors are naturally occurring hormones in your body that signal your bone marrow to make more of certain types of blood cells. Man-made growth factors may be given to some people with bone marrow failure diseases to help increase red blood cell, white blood cell or platelet counts. Red… , lenalidomide lenalidomide: Lenalidomide is a capsule that is taken by mouth. It is approved for treating low-risk, transfusion-dependent myelodysplastic syndrome (MDS) patients with an abnormality of chromosome 5q. It is currently in clinical trials to test its efficacy with a broader range of MDS patients. For some MDS… , HMAs, intensive chemotherapy chemotherapy: (kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with… , and alloSCT. A number of phase 3 combinations studies have been completed or are ongoing at the time of this report. At the present time there are no approved interventions for patients with progressive or refractory refractory: Not responsive to treatment or cure. For example, refractory anemia is a low red blood cell count that doesn't respond to standard treatments. disease particularly after HMA based therapy. In 2021, several reports indicated improved outcomes with alloSCT in MDS as well as early results from clinical trials clinical trials: Clinical research is at the heart of all medical advances, identifying new ways to prevent, detect or treat disease. If you have a bone marrow failure disease, you may want to consider taking part in a clinical trial, also called a research study. Understanding Clinical Trials Clinical… using targeted intervention.