儿童原发中枢神经系统间变性淋巴瘤激酶阳性间变性大细胞淋巴瘤一例并文献复习

Primary central nervous system anaplastic lymphoma kinase-positive anaplastic large cell lymphoma in children:report of one case and review of literature

目的探讨儿童原发中枢神经系统(CNS)间变性大细胞淋巴瘤(ALCL)的临床特征及预后。方法回顾性分析福建医科大学附属协和医院收治的1例原发CNS间变性淋巴瘤激酶(ALK)阳性ALCL患儿的临床资料,并复习相关文献。结果患儿以头痛、发热为主要症状就诊外院,颅脑磁共振成像提示右侧小脑肿块,术前无CNS以外淋巴瘤浸润证据,行小脑肿瘤切除术,术后病理明确诊断为ALK阳性ALCL,未及时化疗。术后第27天转入福建医科大学附属协和医院,化疗前评估肿瘤已扩散至骨髓、睾丸、椎骨等部位,外周血NPM-ALK融合基因阳性。2个疗程化疗后达完全缓解,但最终死于化疗相关并发症。结论原发CNS的ALK阳性ALCL病例罕见,易误诊,病情进展快,总体预后不良;及时进行活组织病理检查以确诊,早期行以化疗为主的综合治疗可能改善患者预后。

Objective To investigate the clinical features and prognosis of primary central nervous system(CNS)anaplastic lymphoma kinase(ALK)-positive anaplastic large cell lymphoma(ALCL)in children.Methods The clinical data of a child with primary CNS ALK-positive ALCL in Fujian Medical University Union Hospital were retrospectively analyzed,and the relevant literature was reviewed.Results The child went to other hospitals with headache and fever as the main symptoms.Head magnetic resonance imaging showed a right cerebellar mass,and there was no evidence of lymphoma infiltration outside the CNS before surgery.Later,cerebellar tumor resection was performed.After the surgery,through pathological examination,the child was diagnosed as ALK-positive ALCL,but did not receive chemotherapy in time.The child transferred to Fujian Medical University Union Hospital on the 27th day after surgery,and the tumor had spread to bone marrow,testis,vertebrae,etc.,and the peripheral blood NPM-ALK fusion gene was positive.The child received 2 courses of chemotherapy and achieved complete remission,but eventually died of chemotherapy complications.Conclusions Primary CNS ALK-positive ALCL is rare and easy to be misdiagnosed.The disease progresses quickly,and the overall prognosis is poor.Timely biopsy for diagnosis and early comprehensive treatment based on chemotherapy may improve the prognosis of patients.