Cancer Risk

Patients with DBA syndrome are at increased risk for solid tumor and blood cancers. A collaborative study with the DBA registry (DBAR) and the National Cancer Institute found a cumulative incidence of cancer in 22% of patients by 46 years of age. A unique feature of DBA syndrome-associated cancers is that they present at younger ages than those cancers are typically seen. Some of the most common cancers in DBA syndrome patients include myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), osteosarcoma, and colorectal cancer. Less frequently, breast cancer, lymphoma, multiple myeloma, gastric cancer, thyroid cancer, skin cancers, Wilms tumor, and cardiac tumors have been reported. According to the DBAR, the total number of cancers in registered patients with DBA syndrome has continued to increase over time. No known association between genotype and cancer risk exists, except for in patients with the GATA1 mutation who have been observed to have an increased risk of MDS with monosomy 7.

Due to the increased risk of cancers in DBA syndrome patients, experts recommend colorectal cancer screening beginning at age 20 with follow-up every 5 years for those with normal colonoscopy findings. Since bone marrow transplant (BMT) may put patients at an even higher risk of cancer, colorectal cancer screening before age 20 can be considered in patients who have undergone BMT. To monitor for blood cancers, complete blood count (CBC) labs are recommended every 3-4 months. Any abnormal findings should be followed up with a bone marrow biopsy. Screening procedures, such as whole-body MRI or PET scans, are not recommended. Other cancer screening tests, such as mammograms, should be performed according to the national cancer preventative guidelines. Of note, those who require cancer treatment do not seem to tolerate therapies such as chemotherapy as well as others, and often require more transfusions and supportive care.