Myelodysplastic syndromes

What causes myelodysplastic syndromes?

The development of MDS involves a series of genetic changes in a hematopoietic stem cell. These changes alter normal cell growth and differentiation (development into different types of blood cells). This results in an accumulation of abnormal, immature cells in the bone marrow and the impaired creation of new blood cells. Genetic changes leading to the development of MDS may result from an inherited predisposition, or from damage to a cell's DNA ( a somatic mutation) caused by exposure to chemotherapy, radiation, viral infection, or certain chemicals (e.g., benzene). It is classified as "secondary" MDS when it is due to aggressive treatment of other cancers. It also occurs in heavily pre-treated people with autologous bone marrow transplants.

MDS sometimes runs in families. While the condition itself is not inherited, a person may inherit a predisposition to MDS due to a mutation in the GATA2 gene, TERC gene, or TERT gene.

Approximately 80% of people with MDS do not have an obvious exposure or cause for MDS. In these cases, the disorder is classified as "primary" or "idiopathic" MDS.

Last updated on 05-01-20

What genes are on chromosome 20q12, and what do these genes do?

Deletions of the long arm of chromosome 20, often written as del(20q), occur in less than 5 percent of cases of myelodysplastic syndrome (MDS). Further studies are needed to determine exactly which genes on chromosome 20 are involved in the development of MDS. Chromosome 20 likely contains between 700 and 800 genes, which perform a variety of different roles in the body. Studies suggest that some of the genes may play critical roles in controlling the growth and division of cells.

A map of the genes on chromosome 20q12 can be viewed on the National Center for Biotechnology Information's Web site by clicking here. Alternatively, a more exhaustive list of the genes on chromosome 20q12 can also be viewed on this site by clicking here. Clicking on the name of the gene will lead to a summary of the gene, including any disorders with which it is known to be associated. Unfortunately, there is not currently a "patient-friendly" resource that lists and/or explains all of the genes on chromosome 20q12. A meeting with a genetics professional may be able to offer additional information about these genes and their functions.

Last updated on 05-01-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url:
Name: Leukemia and Lymphoma Society 3 International Drive, Suite 200
Rye Brook, NY, 10573, United States
Phone: 1-(888) 557-7177 (general) Toll Free: 1-(800) 955-4572 (patients and families) Email: Url:
Name: Aplastic Anemia and MDS International Foundation 4330 East-West Highway, Suite 230
Bethesda, MD, 20814 , United States
Phone: +1-301-279-7202 Toll Free: 1-800-747-2820 Option 2 (Helpline) Fax : +1-301-279-7205 Email: Url:
Name: The MDS Foundation 4573 South Broad St., Suite 150
Yardville, NJ, 08620, United States
Phone: 1-609-298-1035 Toll Free: 1-800-MDS-0839 Fax : 1-609-298-0590 Email: Url: Contact form:

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
Revlimid lenalidomide

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