Photo Credit: umhyh
The following is a summary of “Prevalence and outcomes of cancer and treatment-associated toxicities for patients with Ataxia Telangiectasia,” published in the November 2024 issue of Allergy and Immunology by Magnarelli et al.
Ataxia Telangiectasia (A-T) is a DNA repair disorder linked to cancer risk.
Researchers conducted a retrospective study to analyze the prevalence, outcomes, and treatment-associated toxicities of hematologic and solid cancers in individuals with A-T.
Researchers retrospectively analyzed data from the Johns Hopkins Ataxia Telangiectasia Clinical Center cohort, calculating cancer incidence, survival probability post-diagnosis, and mortality ratios. Cox regression evaluated death risk by chemotherapy dose (standard vs. reduced), and logistic regression assessed cancer risk associations with ATM exons and variants.
The results showed that of 508 individuals, 84 (16.5%) were diagnosed with primary cancer, with 62 (74%) hematologic and 22 (26%) solid cancers. By age 35, cumulative cancer incidence was 29%. Non-Hodgkin lymphoma was the most common (n=39), while solid cancers mostly affected those aged ≥18 (n=22). The standardized mortality ratio was 24.6 (95% CI:21.1-28.4) overall and 232.9 (95% CI:178.1-299.2) for those with cancer. Mortality risk was higher with standard/unknown vs. modified chemotherapy (HR 2.2, 95% CI:1.1-4.4, P=0.024). Chemotherapy-related toxicities occurred in 58%, mainly neurological (n=14) and gastrointestinal (n=10). Variants linked to cancer were found to be enriched in 3 exons.
The study concluded that individuals with A-T face high cancer rates, mortality, and treatment toxicities, stressing the need for targeted therapies. They emphasized the importance of reducing toxicity to improve survival.
Source: jacionline.org/article/S0091-6749(24)01167-9/fulltext
