1型神经纤维瘤病合并复发/难治性前驱B淋巴细胞淋巴瘤：病例报告及文献综述
Neurofibromatosis Type 1 with Relapsed/Refractory Precursor B-Lymphoblastic Lymphoma: Case Report and Literature Review.
作者信息
Li Hongjuan, Leng Yanli, Gu Yan, Han Yan, Zhao Yuqi, Ding Guoyu, Wang Hongmei
机构信息
Department of Pediatrics, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan, China.
Department of Pediatrics, Shandong Provincial Qianfoshan Hospital, Jining Medical University, Jining, China.
出版信息
Case Rep Oncol. 2025 Jun 19;18(1):994-1003. doi: 10.1159/000546996. eCollection 2025 Jan-Dec.
INTRODUCTION
Concomitant occurrence of B-lymphoblastic lymphoma (B-LBL) and neurofibromatosis type 1 (NF1) is rare.
CASE PRESENTATION
We diagnosed and treated a child presenting with NF1 and relapsed B-LBL and reviewed the relevant literature through the last 8 years. Stage IV precursor B-LBL with central nervous system 3 was identified in this patient, with pain and activity abnormalities in both lower limbs. NF1 was diagnosed based on physical examination, brain magnetic resonance imaging, genetic testing, and family history. The patient relapsed after chemotherapy and was given blinatumomab. After 1 week of blinatumomab treatment, the lower limb pain was relieved. The child underwent umbilical cord blood transplantation after completing two sessions of blinatumomab therapy and is still disease-free to date.
CONCLUSION
The findings from this study will offer valuable empirical references for peers treating NF1 associated with refractory/relapsed B-LBL.
引言
B淋巴细胞母细胞淋巴瘤（B-LBL）与1型神经纤维瘤病（NF1）同时发生的情况较为罕见。
病例介绍
我们诊断并治疗了一名患有NF1且复发B-LBL的儿童，并回顾了过去8年的相关文献。该患者被确诊为伴有中枢神经系统3期的IV期前驱B-LBL，双下肢出现疼痛和活动异常。NF1是根据体格检查、脑磁共振成像、基因检测和家族史诊断出来的。患者化疗后复发，接受了博纳吐单抗治疗。博纳吐单抗治疗1周后，下肢疼痛缓解。该患儿在完成两个疗程的博纳吐单抗治疗后接受了脐带血移植，至今仍无疾病复发。
结论
本研究结果将为治疗与难治性/复发性B-LBL相关的NF1的同行提供有价值的经验参考。
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