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Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia
Jeffrey M Lipton1,2,3, Christine L S Molmenti2,3,4, Pooja Desai1,3
1Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Genes
|January 21, 2022
Summary
Diamond Blackfan anemia (DBA), a rare inherited bone marrow failure syndrome, increases cancer risk. Colorectal cancer and osteogenic sarcoma are most common, often detected late, impacting treatment and outcomes.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome and a ribosomopathy.
- It stems from mutations in ribosomal protein genes, leading to haploinsufficiency.
- DBA is associated with red cell aplasia, growth failure, and congenital anomalies.
Purpose of the Study:
- To analyze cancer risk in DBA patients.
- To identify prevalent cancers and their typical presentation.
- To inform the development of screening and surveillance strategies for DBA-associated cancers.
Main Methods:
- Analysis of data from the Diamond Blackfan Anemia Registry of North America (DBAR).
- Quantification of cancer risk in DBA patients.
- Review of case series and reports on DBA and cancer.
Main Results:
- Colorectal cancer (CRC) is the most common solid tumor in young adults with DBA.
- Osteogenic sarcoma is the most common solid tumor in children and adolescents with DBA.
- These cancers are often diagnosed at advanced stages, complicating treatment due to bone marrow failure.
Conclusions:
- DBA is a cancer predisposition syndrome requiring tailored screening and surveillance.
- Early detection strategies, adapted from familial CRC screening, are crucial for improving outcomes.
- Further research into the molecular mechanisms linking RP haploinsufficiency to cancer is warranted.
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