Dörr Jan R, Thorwarth Anne, Mizia-Malarz Agnieszka, Radke Josefine, Tietze Anna, Hernáiz-Driever Pablo, Horn Denise, Gratopp Alexander, Eggert Angelika, Deubzer Hedwig E
Department of Pediatric Hematology and Oncology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
Berliner Institut für Gesundheitsforschung (BIH), 10178 Berlin, Germany.
Children (Basel). 2021 Jun 2;8(6):469. doi: 10.3390/children8060469.
We here report the case of a 2-year-old patient with a primary central nervous system lymphoma of B-cell origin. Due to their past medical history of repeated respiratory tract infections and the marked chemotherapy-associated toxicity and infectious comorbidity, we suspected that the patient also suffered from an inherited immune deficiency disorder. Despite the lack of classical pathognomonic symptoms for ataxia teleangiectasia and missing evidence for a cancer predisposition syndrome in the family, genetic testing identified biallelic germline mutations, including the rare pathogenic variant c.3206delC (p.Pro1069Leufs*2), in the ataxia telangiectasia-mutated () gene. The case highlights the importance of searching for immune deficiency disorders associated with primary central nervous system lymphoma before treatment initiation and the urgent need to develop novel treatment strategies for cancer patients with underlying immunodeficiency syndromes.
我们在此报告一例2岁原发性B细胞起源中枢神经系统淋巴瘤患者。鉴于其既往反复呼吸道感染病史以及化疗相关的显著毒性和感染性合并症，我们怀疑该患者还患有遗传性免疫缺陷疾病。尽管缺乏共济失调毛细血管扩张症的典型特征性症状，且家族中也没有癌症易感性综合征的证据，但基因检测在共济失调毛细血管扩张症突变（ATM）基因中发现了双等位基因种系突变，包括罕见的致病性变异c.3206delC（p.Pro1069Leufs*2）。该病例凸显了在开始治疗前寻找与原发性中枢神经系统淋巴瘤相关的免疫缺陷疾病的重要性，以及迫切需要为患有潜在免疫缺陷综合征的癌症患者制定新的治疗策略。
