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08-05-2012 | Surgery | Article

Cancer risk elevated in Diamond Blackfan anemia


Free abstract

MedWire News: Patients with Diamond Blackfan anemia (DBA) are five times more likely than people in the general population to develop cancer or leukemia, US researchers report.

"The present data strongly suggest that patients with DBA should receive appropriate counseling and surveillance for neoplastic complications," write Adrianna Vlachos (Cohen Children's Medical Center, New Hyde Park, New York, USA) and colleagues in Blood.

The researchers explain that DBA is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies.

A predisposition to cancer has been suggested in patients with DBA, but has not been quantified.

Vlachos and team therefore used data from the DBA Registry of North America (DBAR) - the largest established DBA patient cohort, with prospective follow up since 1991 - to assess cancer incidence in patients with DBA.

The registry included 608 patients (50% men) with 9458 person-years of follow up. Among those who had not received a bone marrow transplant (n=546), 16 solid tumors, two acute myeloid leukemias, and two cases of myelodysplastic syndrome were diagnosed at a median age of 41 years.

The solid tumors included three adenocarcinomas of the colon, two osteogenic sarcomas, two breast cancers, two squamous cell carcinomas (one oral and one vaginal), and one patient each with non-Hodgkin lymphoma, soft tissue sarcoma, uterine cancer, cervical cancer, testicular cancer, choroid meningioma of the lung, and melanoma.

Overall, the incidence of any solid tumor or leukemia was a significant 5.4-fold higher in DBA patients than expected in a demographically matched comparison with the general population.

Risks were greatest for myelodysplastic syndrome, at an observed-to-expected ratio of 287.0, followed by adenocarcinoma of the colon, sarcoma, acute myeloid leukemia, and female genital cancer, at respective observed-to-expected ratios of 36.2, 32.6, 27.9, and 12.0.

The median overall survival was 56 years, and the cumulative incidence of solid tumor or leukemia was 22% by age 46 years.

"The present analysis provides, for the first time, clarity regarding the spectrum and incidence of cancer in DBA, incorporating approximately 20 years of patient accrual and prospective follow-up in the DBAR," Vlachos and co-authors remark.

They say the findings indicate that DBA is both an inherited bone marrow failure syndrome and a cancer predisposition syndrome, such as Fanconi anemia and dyskeratosis congenita, but with lower cancer risks.

The researchers conclude that the small numbers and diversity of cancers, as well as the inability to define specific cancer genotypes, make it difficult to recommend specific cancer screening.

However, "special attention should be given to blood per rectum and bone findings, because these may identify the most frequently occurring neoplasms in DBA patients," they write.

By Laura Cowen

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