Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan anemia registry

Adrianna Vlachos, Philip S. Rosenberg, Eva Atsidaftos, Blanche P. Alter, Jeffrey M. Lipton

Research output: Contribution to journalArticle

Abstract

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 my-eloid leukemias, and 2 cases of myelodys-plastic 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 myelodys-plastic 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 dyskerato-sis congenita. This trial was registered at www.clinicaltrials.gov as #NCT00106015.

Original languageEnglish (US)
Pages (from-to)3815-3819
Number of pages5
JournalBlood
Volume119
Issue number16
DOIs
StatePublished - Apr 19 2012
Externally publishedYes

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

Fingerprint Dive into the research topics of 'Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan anemia registry'. Together they form a unique fingerprint.

  • Cite this

    Vlachos, A., Rosenberg, P. S., Atsidaftos, E., Alter, B. P., & Lipton, J. M. (2012). Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan anemia registry. Blood, 119(16), 3815-3819. https://doi.org/10.1182/blood-2011-08-375972