Monitoring and treatment of MDS in genetically susceptible persons

Genetic susceptibility to myelodysplastic syndrome (MDS) occurs in children with inherited bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… syndromes, including Fanconi anemia Fanconi anemia: A rare inherited disorder that happens when the bone marrow does not make enough blood cells (red cells, white cells, and platelets). Fanconi anemia is diagnosed early in life. People with Fanconi anemia have a high likelihood of developing cancer. Genetic testing is used to diagnose Fanconi anemia. , Shwachman Diamond syndrome, and dyskeratosis congenita dyskeratosis congenita: An inherited disease that may lead to bone marrow failure. . Available evidence (although not perfect) supports annual surveillance of the blood count and bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. in affected persons. Optimal treatment of MDS in these persons is most commonly transplantation. Careful consideration must be given to host susceptibility to DNA damage when selecting a transplant strategy, because significant dose reductions and avoidance of radiation are necessary. Transplantation before evolution to acute myeloid leukemia acute myeloid leukemia: (uh-KYOOT my-uh-LOYD 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 MDS become… (AML) is optimal, because outcomes of AML are extremely poor. Children and adults can present with germline mutations in GATA2 and RUNX1, both of which are associated with a 30% to 40% chance of evolution to MDS. GATA2 deficiency may be associated with a clinically important degree of immune suppression, which can cause severe infections that can complicate transplant strategies. GATA2 and RUNX1 deficiency is not associated with host susceptibility to DNA damage, and therefore, conventional treatment strategies for MDS and AML can be used. RUNX1 deficiency has a highly variable phenotype, and MDS can occur in childhood and later in adulthood within the same families, making annual surveillance with marrow examination burdensome; however, such strategies should be discussed with affected persons, allowing an informed choice.