Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry
Lipton, J. M., Molmenti, C. L., Hussain, M., Desai, P., Florento, M., Atsidaftos, E., & Vlachos, A. Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry. Pediatric Blood & Cancer, e28984.

Abstract:
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by red cell failure, congenital anomalies, poor linear growth, and cancer predisposition. Two previous analyses from the Diamond Blackfan Anemia Registry have quantified DBA as a cancer predisposition syndrome of moderate cancer penetrance. Patients with DBA have a 4.8-fold higher relative risk of developing cancer with an overall cumulative incidence of 13.7% by age 45 years. The two most prevalent solid tumors are colorectal cancer (CRC) and osteogenic sarcoma. Current and evolving data support the institution of cancer screening and surveillance strategies for CRC in DBA.

Keypoints:

  • Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome that is characterized by red cell failure, congenital anomalies, poor linear growth, and a predisposition to certain cancers.

  • ​Two previous analyses from the Diamond Blackfan Anemia Registry reveal that individuals with DBA have a 4.8-fold higher risk of developing cancer with an overall incidence of 13.7% by age 45 years.

  • The two most prevalent solid tumors are colorectal cancer and osteogenic sarcoma. The incidence of colorectal cancer in DBA beginning at age 20 years is in the range of that seen in non-DBA affected adults beginning at an age of 45 years. In those individuals, colonoscopy has been able to detect pre-cancerous adenomas and early cancer.

  • This early detection has reduced the amount of therapy required and has dramatically improved outcomes.

  • These data support the institution of colonoscopy for colorectal cancer screening and surveillance in individuals with DBA beginning at 20 years of age.

  • Further analysis is ongoing to determine if early screening for osteogenic sarcoma or other cancers is warranted.


 

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