Myelodysplastic Syndrome, often referred to as MDS, represents a group of blood cancers impacting the bone marrow. The bone marrow, which acts as the body’s blood cell “factory,” fails to produce enough healthy blood cells. This leads to a shortage of mature red blood cells, white blood cells, and platelets, causing various health problems like fatigue, infections, or easy bleeding.
Is Myelodysplastic Syndrome Inherited?
Myelodysplastic Syndrome is not typically inherited. The vast majority of MDS cases are acquired during a person’s lifetime, meaning genetic changes usually occur spontaneously in bone marrow cells over time.
While most cases are acquired, rare instances exist where MDS has a hereditary component. Specific gene mutations have been identified in families where multiple members develop MDS or acute myeloid leukemia (AML), highlighting that a genetic predisposition can exist in a small percentage of cases.
Genetic Syndromes Linked to MDS
When MDS has a hereditary link, it is often associated with specific inherited genetic syndromes or mutations. Examples include Fanconi anemia, a rare genetic disorder affecting DNA repair that significantly increases the risk of bone marrow failure and MDS. GATA2 deficiency is another syndrome, caused by mutations in the GATA2 gene, which plays a role in blood cell development and can predispose individuals to MDS and other conditions.
Familial platelet disorder with predisposition to myeloid malignancy (FPD/AML), characterized by RUNX1 gene mutations, is another well-defined inherited disorder that increases the risk for MDS and AML. Telomere biology disorders, resulting from mutations in genes like TERC or TERT, can also lead to increased susceptibility to MDS. Collectively, these genetic predispositions may account for approximately 4% to 15% of MDS cases.
Common Causes of Acquired MDS
Acquired MDS often results from damage to bone marrow stem cells over time. Exposure to certain chemicals like benzene (found in fuels, paints, and industrial products) is a known risk factor, as it can cause mutations in blood cells leading to MDS.
Previous treatments for other cancers, including chemotherapy and radiation therapy, are also recognized causes of acquired MDS, often called therapy-related MDS. These treatments can damage DNA within bone marrow stem cells, increasing the risk. Advancing age is a significant risk factor, with most MDS patients being over 65, as genetic changes accumulate over a lifetime. Despite these identified risk factors, the specific cause of acquired MDS remains unknown for many.
Family Risk and Genetic Counseling
If there is a family history of MDS or related blood cancers, genetic counseling can be a valuable resource. Genetic counselors can assess an individual’s risk by reviewing their family’s medical history and discussing the possibility of inherited genetic mutations. This assessment helps determine if genetic testing is appropriate.
Genetic testing can identify specific inherited gene changes, such as those in RUNX1, GATA2, or TP53, linked to an increased MDS risk. For families where such a predisposition is identified, genetic counseling also provides guidance on potential screening strategies and management approaches. Understanding a family’s genetic background can offer important insights for proactive health management.