皮肤T细胞淋巴瘤继发噬血细胞性淋巴组织细胞增多症7例临床分析

Clinical analysis of seven cases of hemophagocytic lymphohistiocytosis secondary to cutaneous T-cell lymphoma

目的探讨皮肤T细胞淋巴瘤(CTCL)合并继发性噬血细胞性淋巴组织细胞增多症(sHLH)的临床及实验室特征。方法回顾性分析2016年6月至2021年10月武汉市第一医院血液内科收治的CTCL并拟诊sHLH患者,按照HLH-2004标准和HScore评分对患者进行评估。结果7例CTCL患者确诊合并sHLH,分别为2例原发性皮肤γδT细胞淋巴瘤(PC-GDTCL),3例皮肤结外NK/T细胞淋巴瘤(C-ENKTCL),2例原发皮肤间变大细胞淋巴瘤(PC-ALCL)。7例患者均接受化疗,6例死亡,确诊CTCL合并sHLH后生存期14~60 d(中位生存期26.5 d)。2例检出HLH相关基因突变(PRF1、LYST突变),2例PC-GDTCL患者分别检出淋巴瘤相关基因突变(KRAS、KMT2D和JAK3、SAMHD1突变)。结论CTCL合并sHLH临床进展迅速,需早期诊断及干预,初诊及病情进展时行骨穿检查及淋巴瘤、HLH相关基因突变检测有助于早期诊断。

Objective To investigate clinical and laboratory characteristics of secondary hemophagocytic lymphohistiocytosis(sHLH)associated with secondary cutaneous T-cell lymphoma(CTCL).Methods CTCL patients with clinically suspected sHLH were collected from Department of Hematology,Wuhan No.1 Hospital from January 2016 to October 2021,and were evaluated according to the HLH-2004 diagnostic criteria and HScore.Results Seven CTCL patients were confirmedly diagnosed with sHLH,including 2 with primary cutaneousγδT-cell lymphoma(PC-GDTCL),3 with cutaneous extranodal natural killer/T-cell lymphoma(C-ENKTCL),and 2 with primary cutaneous anaplastic large cell lymphoma(PC-ALCL).All the 7 patients received chemotherapy,but 6 died finally,and the median overall survival duration was 26.5 days(range:14-60 days)after the confirmed diagnosis of CTCL complicated by sHLH.HLH-related gene mutations,which were located in the PRF1 and LYST genes,were identified in 2 patients;lymphoma-related gene mutations were identified in the KRAS and KMT2D genes in 1 PC-GDTCL patient,and in the JAK3 and SAMHD1 genes in another PC-GDTCL patient.Conclusions CTCL complicated by sHLH usually progresses rapidly,so early diagnosis and treatment are needed.Bone marrow biopsy and mutation screening of lymphoma-and HLH-related genes at initial diagnosis and during disease progression may facilitate early diagnosis.