Risk of Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia

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In a German nationwide register-based cohort study reported in the Journal of Clinical Oncology, Dutzmann et al found that risk of developing cancer by age 18 exceeded 10% in children with Fanconi anemia or ataxia-telangiectasia.

Study Details

The study involved data on 421 patients with Fanconi anemia and 160 with ataxia-telangiectasia diagnosed between 1973 and 2020. Information was obtained through German DNA repair disorder reference laboratories; patient laboratory data were linked with childhood cancer data from the German Childhood Cancer Registry.

Key Findings

Among 421 patients with Fanconi anemia, 33 cases of childhood cancer were identified, consisting of 15 cases of myelodysplastic syndrome (MDS); 7 of acute myeloid leukemia (AML); 2 each of lymphoma, carcinoma, medulloblastoma, and nephroblastoma; and 1 each of rhabdomyosarcoma, acute lymphoblastic leukemia, and glioma. The cumulative cancer risk before age 18 years was 10.6% in the entire cohort. On the basis of German population-based incidence rates, 0.74 cases of cancer would be expected, yielding a standardized incidence ratio (SIR) of 39 (95% confidence interval [CI] = 26–56) for the cohort. The cancer-specific SIR for myeloid neoplasms was 445 (95% CI = 272–687); SIRs were 1,104 (95% CI = 588–1,888) for MDS and 211 (95% CI = 85–435) for AML.

Among 160 patients with ataxia-telangiectasia, 19 cases of childhood cancer were identified, consisting of 15 cases of lymphoma, 3 of leukemia, and 1 of medulloblastoma. The cumulative cancer risk before age 18 years was 14.3% in the entire cohort. A total of 0.32 cases of cancer would be expected in the general population, yielding a SIR of 56 (95% CI = 33–88) for the cohort. Cancer-specific SIRs were 215 (95% CI = 58–549) for Hodgkin lymphoma and 470 (95% CI = 225–865) for non-Hodgkin lymphoma.

The investigators concluded, “Approximately 11% of patients with Fanconi anemia and 14% of patients with ataxia-telangiectasia develop cancer by age 18 years.”

Christian P. Kratz, MD, of the Pediatric Hematology and Oncology and Rare Disease Program, Hannover Medical School, is the corresponding author for the Journal of Clinical Oncology article.

Disclosure: The study was supported by the German Ministry of Education and Research, Deutsche Kinderkrebsstiftung, German Research Foundation, and others. For full disclosures of the study authors, visit

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