Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome 
characterized by red cell aplasia and congenital anomalies. A predisposition to 
cancer has been suggested but not quantified by case reports. The DBA Registry 
of North America (DBAR) is the largest established DBA patient cohort, with 
prospective follow-up since 1991. This report presents the first quantitative 
assessment of cancer incidence in DBA. Among 608 patients with 9458 person-years 
of follow-up, 15 solid tumors, 2 acute myeloid leukemias, and 2 cases of 
myelodysplastic syndrome were diagnosed at a median age of 41 years in patients 
who had not received a bone marrow transplant. Cancer incidence in DBA was 
significantly elevated. The observed-to- expected ratio for all cancers combined 
was 5.4 (P < .05); significant observed-to-expected ratios were 287 for 
myelodysplastic syndrome, 28 for acute myeloid leukemia, 36 for colon carcinoma, 
33 for osteogenic sarcoma, and 12 for female genital cancers. The median 
survival was 56 years, and the cumulative incidence of solid tumor/leukemia was 
approximately 20% by age 46 years. As in Fanconi anemia and dyskeratosis 
congenita, DBA is both an inherited bone marrow failure syndrome and a cancer 
predisposition syndrome; cancer risks appear lower in DBA than in Fanconi anemia 
or dyskeratosis congenita. This trial was registered at www.clinicaltrials.gov 
as #NCT00106015.