Patients with Diamond-Blackfan anemia may have an increased incidence of colon cancer and osteogenic sarcoma, according to results from a longitudinal study reported in Blood.

The study used prospective follow-up data from 702 patients enrolled in the Diamond Blackfan Anemia Registry of North America. Age of onset and cancer type were noted for each incident, and cause-specific hazard functions and cumulative incidences were estimated for each patient’s first adverse event. Additionally, the observed/expected ratio of malignancies was derived using the Surveillance Epidemiology and End Results Program; tumors not included in this program were excluded from the analysis.

In total, 28 cancers in 26 patients were assessed. The median age of first cancer (solid tumor or acute myelogenous leukemia) was 35 years (range, 11-70 years). At approximately age 30, the cause-specific hazard rate of solid tumors started to dramatically increase, and at approximately age 40, the rate of acute myelogenous leukemia began to slowly increase. By age 45, the cumulative incidence of cancers was 13.7%.

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The relative risk of all cancers was 4.8 times greater than that of the general population (95% CI: 3.2-6.9). Colon cancer and osteogenic sarcoma occurred at 45 times (95% CI: 18.0-92.1) and 42 times (95% CI: 11.6-108.7) more often than the incidence in the general population, respectively.

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At age 20, the risk of death from non-malignant complications rapidly increased, and by age 50, the cumulative incidence of death was 25%.

“Investigation of approaches to detect colon cancer…and perhaps osteogenic sarcoma and other malignancies” would be valuable for patients with Diamond-Blackfan anemia, the authors concluded.


1. Vlachos A, Rosenberg PS, Atsidaftos E, et al. Increased risk of colon cancer and osteogenic sarcoma in Diamond Blackfan anemia [published online September 28, 2018]. Blood. doi: 10.1182/blood-2018-05-848937

This article originally appeared on Hematology Advisor