, et al
Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia
Blood Adv.
; doi:

Investigators from multiple international institutions conducted a retrospective cohort study to assess outcomes in children <18 years old with Diamond-Blackfan anemia (DBA) who received an allogeneic hematologic stem cell transplantation (HSCT) between 1985 and 2017. Children were identified using German and French DBA and HSCT registries. Patient characteristics, HSCT information (including donor type, categorized as matched sibling donor [MSD], matched unrelated donor [MUD], or unrelated donor [UD]), and clinical outcomes were obtained from registry data.

The primary outcomes were (a) the cumulative incidence of acute graft-versus-host disease (aGVHD) and chronic GVHD (cGVHD), defined using established criteria, and (b) the probability of cGVHD-free survival (cGFS), defined as the time between HSCT and treatment failure, including cGVHD, death, or last follow-up, whichever came first. A secondary outcome included the probability of overall survival, defined as the time between HSCT, death, or last follow-up, whichever came first. Investigators used Kaplan-Meier curves to estimate survival rates and multivariable models to identify factors that predicted cGFS.

There were 70 children included in analysis. The median age at HSCT was 5.5 years (range, 0.9–17.3 years) with a median follow-up of 4.5 years (0.2–22.2 years). Most (64%) received HSCT from an MSD; 17% received a HSCT from an MUD and 19% from a UD.

The cumulative incidence of aGVHD was 24% (95% CI, 16%–37%). There was no difference in aGVHD in participants who received an MSD (vs UD) HSCT, though aGVHD was significantly lower in participants who received an HSCT from an MSD (vs UD) in HSCTs performed after 1999. The cumulative incidence of cGVHD was 11% (95% CI, 5%–22%).

The probability of overall survival was 91% (95% CI, 84%–98%). The probability of cGFS was 87% (95% CI, 79%–95%). In multivariable models, HSCT performed after the year 2000, MSD type, and lower occurrence of aGVHD predicted higher cGFS.

The investigators conclude that HSCT is a relatively safe and effective treatment option for transfusion-dependent children with DBA.

Dr Hogan has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Diamond-Blackfan anemia is a rare, congenital bone marrow failure syndrome manifesting in infancy with transfusion-dependent macrocytic anemia, reticulocytopenia, and a spectrum of craniofacial, thumb, renal, or cardiac anomalies found in 50% of cases. In young adulthood, affected individuals have an increased risk of malignancies, including myelodysplastic syndrome, acute myelogenous leukemia, colon cancer, and osteosarcoma. Diagnosis is supported by elevated serum erythrocyte adenosine deaminase activity, fetal hemoglobin, and erythropoietin, with deficient marrow red cell precursors. Approximately 60% of cases have been associated with 7 of 79 known genes encoding ribosomal proteins or related gene mutations in GATA1 and TSR2. Inheritance is autosomal dominant with varying expressivity and...

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