Pediatric Infection and Vaccine

  • 제30권3호
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  • Pages.129-138
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  • 2023
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  • 2384-1079(pISSN)
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  • 2384-1087(eISSN)
대한소아감염학회 (The Korean Society of Pediatric Infectious Diseases)
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Malignancy in Patients With Inborn Errors of Immunity Beyond Infectious Complication: Single Center Experience for 30 Years

  • Doo Ri Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kyung-Ran Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hwanhee Park (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Joon-sik Choi (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yoonsun Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sohee Son (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hee Young Ju (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jihyun Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Keon Hee Yoo (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kangmo Ahn (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hee-Jin Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Eun-Suk Kang (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Junhun Cho (Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Su Eun Park (Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine) ;
  • Kihyun Kim (Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yae-Jean Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2023.11.17
  • 심사 : 2023.12.03
  • 발행 : 2023.12.25
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초록

목적: 선천면역장애 환자들은 감염에 취약할 뿐만 아니라, 면역이 정상인 사람들에 비해 암 발생률도 높은 것으로 알려져 있다. 본 연구는 단일 기관에서 추적 중인 선천면역장애 환자들에서의 암 발생을 조사하여 보고자 하였다. 방법: 1994년 11월부터 2023년 9월까지 삼성서울병원에서 선천면역장애 진단 하에 추적하는 환자를 대상으로 후향적으로 의무기록을 리뷰하였다. 선천면역장애 환자 중에서 암으로 진단된 환자를 확인하였다. 결과: 총 194명의 선천면역장애 환자 중, 7명(3.6%)의 환자에서 암이 진단되었다. 5명의 환자가 림프종으로 진단받았으며 그 중 4명의 환자는 Epstein-Barr 바이러스 연관 림프종이었다. 나머지 암은 위암과 다발 골수종이었다. 암 진단 당시 나이는 중앙값 18세 (범위, 1세–75세)였다. 암이 발생한 환자들의 면역결핍 질환은 X-linked lymphoproliferative disorder-1 (XLP-1) 3명, activated phosphoinositide 3-kinase delta disease (APDS) 2명, cytotoxic T-lymphocyte antigen 4 (CTLA-4) haplo-insufficiency 2명이었다. 개별 질환별로 분석하였을 때, XLP-1 환자의 75.0%, APDS 환자의 40.0%, CTLA-4 환자의 50.0%에서 암이 발생하였다. XLP-1 환자는 APDS 및 CTLA-4 haplo-insufficiency 환자에 비해 더 이른 나이에 암이 발생하였다 (중앙연령 5세, P<0.001). 한 명은 조혈모세포 이식 치료 중 사망하였다. 결론: 국내 단일 기관에서 진료받는 선천면역장애 환자들의 3.6%에서 암이 발생하였다. 선천면역장애 환자들을 진료하는 의료진들은 이들 환자에서 감염이나 염증 등의 문제외에도 암 발생의 가능성, 특히 Epstein-Barr 바이러스 감염과 연관된 암의 비중이 높은 것에 대한 인식을 갖는 것이 중요하다.

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 infection.

키워드

과제정보

We thank to Min-Ji Kim for statistical advisory. The authors thank the patients and their families for their cooperation.

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