Clinical spectrum and survival outcomes of malignancies in pediatric patients with inborn errors of immunity.
Frontiers in immunology, cilt.17, sa.1904173, ss.1904173, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 17 Sayı: 1904173
- Basım Tarihi: 2026
- Doi Numarası: 10.3389/fimmu.2026.1904173
- Dergi Adı: Frontiers in immunology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Directory of Open Access Journals, Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.1904173
- Ankara Üniversitesi Adresli: Evet
Özet
Background: Inborn errors of immunity (IEI) predispose patients to malignancy, particularly lymphoma, but data on diagnostic sequence and outcomes are limited. Methods: We retrospectively analyzed IEI-associated malignancies diagnosed at a single center between January 2004 and December 2025. Results: Among 1,668 patients with IEI, 67 (4.0%) developed malignancy. Median ages at IEI and malignancy diagnosis were 8 and 10 years, respectively. Malignancy-first presentation occurred in 45 patients (67%), especially adolescents, and was associated with advanced-stage disease (p = 0.007). Lymphoid malignancies accounted for 90% of cases; non-Hodgkin lymphoma and Hodgkin lymphoma comprised 54% and 36%, respectively, and 84.7% presented with stage III-IV disease. Median event-free and overall survival were 66 and 155 months, respectively. In a clinically selected multivariable Cox model, NHL, solid/plasma cell tumors, older age at malignancy diagnosis, and DNA repair defect status were associated with worse OS. Twelve patients underwent allogeneic HSCT; one died early, and no post-transplant relapses occurred. Conclusion: Early immunologic evaluation and timely, individualized consideration of HSCT may support optimized management in children and adolescents, in whom cancer may be the first manifestation of IEI.