Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat


Kiykim A., Eker N. , Surekli O., Nain E., Kasap N., Aktürk H., ...More

Pediatric Blood and Cancer, vol.67, no.2, 2020 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 67 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.1002/pbc.28091
  • Title of Journal : Pediatric Blood and Cancer
  • Keywords: cancer, lymphoid proliferation, lymphoma, malignancy, primary immune deficiency, prognosis, IMMUNODEFICIENCY SYNDROMES, IMMUNOLOGICAL PHENOTYPE, CANCER, CHILDREN, SECONDARY, MUTATION, PATHWAY, PATIENT, PIK3R1

Abstract

© 2019 Wiley Periodicals, Inc.Background: Regarding the difficulties in recognition and management of the malignancies in primary immune deficiencies (PIDs), we aimed to present the types, risk factors, treatment options, and prognosis of the cancers in this specific group. Methods: Seventeen patients with PID who developed malignancies or malignant-like diseases were evaluated for demographics, clinical features, treatment, toxicity, and prognosis. Results: The median age of malignancy was 12.2 years (range, 2.2-26). Lymphoma was the most frequent malignancy (n = 7), followed by adenocarcinoma (n = 3), squamous cell carcinoma (n = 2), cholangiocarcinoma (n = 1), Wilms tumor (n = 1), and acute myeloid leukemia (n = 1). Nonneoplastic lymphoproliferation mimicking lymphoma was observed in five patients. The total overall survival (OS) was 62.5% ± 12.1%. The OS for lymphoma was 62.2% ± 17.1% and found to be inferior to non-PID patients with lymphoma (P = 0.001). Conclusion: In patients with PIDs, malignancy may occur and negatively affect the OS. The diagnosis can be challenging in the presence of nonneoplastic lymphoproliferative disease or bone marrow abnormalities. Awareness of susceptibility to malignant transformation and early diagnosis with multidisciplinary approach can save the patients’ lives.