Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry

Pediatr Blood Cancer. 2021 Aug;68(8):e28984. doi: 10.1002/pbc.28984. Epub 2021 Jun 5.

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.

Keywords: Diamond Blackfan anemia; cancer screening; cancer surveillance; early onset colorectal cancer.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Anemia, Diamond-Blackfan* / diagnosis
  • Anemia, Diamond-Blackfan* / epidemiology
  • Anemia, Diamond-Blackfan* / genetics
  • Bone Neoplasms*
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / epidemiology
  • Disease Susceptibility
  • Early Detection of Cancer
  • Humans
  • Middle Aged
  • Mutation
  • Registries
  • Ribosomal Proteins / genetics

Substances

  • Ribosomal Proteins