Supplementary Material for: Neurofibromatosis type 1 with relapsed/refractory precursor B-lymphoblastic lymphoma: Case report and literature review

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 one 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淋巴细胞淋巴瘤（B-lymphoblastic lymphoma, B-LBL）与1型神经纤维瘤病（neurofibromatosis type 1, NF1）并发的病例较为罕见。病例报告：本文报道1例同时罹患1型神经纤维瘤病与复发型B淋巴细胞淋巴瘤的患儿的诊疗经过，并回顾了近8年的相关文献。该患者被确诊为伴中枢神经系统3级受累的Ⅳ期前体B淋巴细胞淋巴瘤，临床表现为双下肢疼痛及活动障碍。结合体格检查、颅脑磁共振成像、基因检测及家族史，明确诊断1型神经纤维瘤病。患儿经化疗后出现疾病复发，遂予以贝林妥欧单抗（blinatumomab）治疗。贝林妥欧单抗治疗1周后，患者下肢疼痛症状得到缓解。患儿在完成2个疗程的贝林妥欧单抗治疗后接受了脐带血移植，截至目前仍处于无病生存状态。结论：本研究结果可为临床同行处理合并难治性/复发性B淋巴细胞淋巴瘤的1型神经纤维瘤病患者提供有价值的实践参考。