Piquer Gibert Monica, Alsina Laia, Giner Muñoz María Teresa, Cruz Martínez Ofelia, Ruiz Echevarria Karen, Dominguez Olga, Plaza Martín Ana María, Arostegui Juan I, de Valles Guillem, Juan Otero Manel, Martin-Mateos Maria Anunciacion
Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Passeig Sant Joan de Déu, 2, 08950, Esplugues de Llobregat, Barcelona, Spain,
Eur J Pediatr. 2015 Aug;174(8):1069-76. doi: 10.1007/s00431-015-2508-6. Epub 2015 Mar 10.
Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency associated with an increased risk of malignancy in adulthood, with lymphoma as one of the major causes of death. The aim of this study is to describe those malignancies detected in our cohort of pediatric CVID patients. We reviewed the clinical and laboratory data and the treatments and their outcomes in all pediatric CVID patients from our institution that developed a neoplasia. Four malignancies were diagnosed in three out of 27 pediatric CVID patients. Three malignancies were non-Hodgkin lymphoma (NHL) of B cell origin (mean age at diagnosis: 8 years old), and the remaining was a low-grade astrocytoma. Among NHL, two were mucosa-associated lymphoid tissue (MALT) lymphomas and one was associated with Epstein-Barr virus infection. NHL developed before CVID diagnosis in two patients. CVID patients showed different clinical phenotypes and belonged to different groups according Euroclass and Pediatric classification criteria.
Malignancies, especially lymphoma, may develop in pediatric CVID patients with no previous signs of lymphoid hyperplasia and even before CVID diagnosis. Consequently, strategies for cancer prevention and/or early diagnosis are required in pediatric CVID patients.
普通可变免疫缺陷（CVID）是一种异质性原发性免疫缺陷，与成年期患恶性肿瘤风险增加相关，淋巴瘤是主要死因之一。本研究旨在描述在我们的儿科CVID患者队列中检测到的那些恶性肿瘤。我们回顾了我们机构中所有发生肿瘤的儿科CVID患者的临床和实验室数据、治疗方法及其结果。27例儿科CVID患者中有3例被诊断出4种恶性肿瘤。3种恶性肿瘤为B细胞起源的非霍奇金淋巴瘤（NHL）（诊断时平均年龄：8岁），其余为低级别星形细胞瘤。在NHL中，2例为黏膜相关淋巴组织（MALT）淋巴瘤，1例与爱泼斯坦 - 巴尔病毒感染相关。2例患者的NHL在CVID诊断之前就已发生。根据欧洲分类标准和儿科分类标准，CVID患者表现出不同的临床表型且属于不同组别。
恶性肿瘤，尤其是淋巴瘤，可能在之前没有淋巴样增生迹象甚至在CVID诊断之前的儿科CVID患者中发生。因此，儿科CVID患者需要癌症预防和/或早期诊断策略。
