家族性噬血细胞综合征继发皮下脂膜炎样T细胞淋巴瘤一例并文献复习

Subcutaneous panniculitis-like T-cell lymphoma secondary to familial hemophagocytic syndrome:report of one case and review of literature

目的探讨家族性噬血细胞综合征(FHL)继发皮下脂膜炎样T细胞淋巴瘤(SPTCL)的临床特点及基因突变情况。方法选取2012年6月河南省儿童医院收治的1例FHL继发SPTCL患儿为研究对象,回顾性分析其临床特征、疾病演变过程、基因突变及遗传学特点,并复习相关文献。结果患儿有UNC13D纯合突变伴STXBP2杂合突变,父母及兄长UNC13D为杂合突变。给予HLH-2004方案规律化疗,4年后疾病复发,二次化疗缓解1年后继发SPTCL,给予SMILE方案化疗后行异基因造血干细胞移植,至截稿前无病生存。结论对儿童噬血细胞综合征应及时完善相关基因检测,以明确原发病诊断。FHL可继发SPTCL,化疗联合异基因造血干细胞移植可能是目前唯一的治愈途径。

Objective To investigate the clinical characteristics and gene mutations of subcutaneous panniculitis-like T-cell lymphoma(SPTCL)secondary to familial hemophagocytic syndrome(FHL).Methods The clinical features,disease evolution,gene mutation and genetic characteristics of 1 SPTCL patient secondary to FHL in Henan Children's Hospital in June 2012 were analyzed retrospectively,and the related literatures were reviewed.Results The UNC13D of FHL patient was homozygous mutation accompanied by STXBP2 heterozygous mutation,while that of his parents and elder brother was heterozygous mutation.After regular chemotherapy with HLH-2004 regimen,the disease relapsed 4 years later,and secondary SPTCL developed after 1 year of remission with the second chemotherapy.After giving SMILE regimen chemotherapy,allogeneic hematopoietic stem cell transplantation was performed,and now the patient had disease-free survival.Conclusions The detection of related genes in children with hemophagocytic syndrome should be improved in time to confirm the diagnosis of primary disease.FHL can follow SPTCL,and chemotherapy combined with allogeneic hematopoietic stem cell transplantation can be the only method to cure this disease.