Pediatr Infect Vaccine.
2023 Dec;30(3):129-138. 10.14776/piv.2023.30.e22.
Malignancy in Patients With Inborn Errors of Immunity Beyond Infectious Complication: Single Center Experience for 30 Years
- Kim DR
1 - Kim KR1,2
- Park H1,3
- Choi Js1,4
- Yoon Y1,5
- Son S1
- Ju HY1
- Kim J1
- Yoo KH1
- Ahn K1
- Kim HJ6
- Kang ES6
- Cho J7
- Park SE8
- Kim K9
- Kim YJ1,10
- Affiliations
-
- 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, the Republic of Korea
- 2Department of Pediatrics, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine, Changwon, the Republic of Korea
- 3Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, the Republic of Korea
- 4Department of Pediatrics, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, the Republic of Korea
- 5Department of Pediatrics, Korea University Guro Hospital, Korea University College of Medicine, Seoul, the Republic of Korea
- 6Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, the Republic of Korea
- 7Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, the Republic of Korea
- 8Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, the Republic of Korea
- 9Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, the Republic of Korea
- 10Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Suwon, the Republic of Korea
- KMID: 2551462
- DOI: http://doi.org/10.14776/piv.2023.30.e22
Abstract
- Purpose
Cancer incidence is known to be higher in patients with inborn errors of immunity (IEI) compared to the general population in addition to traditionally well-known infection susceptibility. We aimed to investigate cancer occurrence in patients with IEI in a single center.
Methods
Medical records of IEI patients treated at Samsung Medical Center, Seoul, Korea were retrospectively reviewed from November 1994 to September 2023. Patients with IEI and cancer were identified.
Results
Among 194 patients with IEI, seven patients (3.6%) were diagnosed with cancer. Five cases were lymphomas, 4 of which were Epstein-Barr virus (EBV)-associated lymphomas. The remaining cases included gastric cancer and multiple myeloma. The median age at cancer diagnosis was 18 years (range, 1–75 years). Among patients with cancer, underlying IEIs included X-linked lymphoproliferative disease-1 (XLP-1, n=3), activated phosphoinositide 3-kinase delta syndrome (APDS, n=2), and cytotoxic T-lymphocyte antigen 4 (CTLA-4) haploinsufficiency (n=2). Seventy-five percent (3/4) of XLP-1 patients, 40.0% (2/5) of APDS patients, and 50.0% (2/4) of CTLA-4 haplo-insufficiency patients developed cancer. Patients with XLP-1 developed cancer at earlier age (median age 5 years) compared to those with APDS and CTLA-4 (P<0.001). One patient with APDS died during hematopoietic cell transplantation.
Conclusions
Cancer occurred in 3.6% of IEI patients at a single center in Korea. In addition to infectious complications and inflammation, physicians caring for IEI patients should be aware of the potential risk of cancer, especially in association with EBV infectio
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