种痘水疱病样淋巴组织增殖性疾病18例临床分析

Clinical analysis of 18 patients with hydroa vacciniforme-like lymphoproliferative disorder

目的:探讨种痘水疱病样淋巴组织增殖性疾病(HV-LPD)的临床及病理特征。方法:回顾性分析18例经病理确诊的HV-LPD患者的临床及随访资料。结果:18例HV-LPD患者中,16例临床表现为四肢、面部等部位皮肤反复出现丘疹、水疱,破溃后结黑痂愈合形成种痘样斑痕,2例表现为反复口腔溃疡。1例并发噬血细胞综合征,3例日照后加重。15例皮下浸润的淋巴细胞为T细胞表型,3例为NK细胞表型。荧光原位杂交结果示EBV编码RNA(EBER)均为阳性。14例行TCR基因重排检测,其中12例阳性。2例行免疫组化PD-1及PD-L1检测,1例PD-1(+)PD-L1(+),1例PD-1(-)PD-L1(+)。18例HV-LPD患者中5例接受化疗,疗效评价均为疾病进展,仅1例化疗失败后行异基因造血干细胞移植后达完全缓解。截至2019年7月,6例失访,3例完全缓解,3例部分缓解,1例疾病稳定,5例因疾病进展死亡。结论:HV-LPD是一个广谱性疾病,诊断应结合临床及病理表现;暂无标准治疗方案,造血干细胞移植可能是复发难治患者的选择。

Aim:To analyze the clinicopathological characteristics of hydroa vacciniforme-like lymphoproliferative disorder(HV-LPD).Methods:The clinical and pathological data of 18 patients with HV-LPD were reviewed.Results:Among the patients,16 patients had skin lesions on the extremities and face,including papules,vesicles,ulcers,and vaccinia-like scars;2 patients presented recurrent oral ulcer.Only 1 patient had hemophagocytic syndrome.The skin lesions of 3 patients aggravated after sunshine exposure.The subcutaneous infiltrating lymphocytes of 15 cases presented T cell phenotype and 3 cases exhibited NK cell phenotype.EB virus encoded RNA(EBER)was positive in all the patients.Detection of TCR gene rearrangement were carried out in 14 patients,and 12 cases were positive.The immunohistochemistry staining of PD-1 and PD-L1 were performed in 2 patients,and one presented PD-1(+)and PD-L1(+),and the other was PD-1(-)and PD-L1(+).Out of the 18 patients,5 received chemotherapy,and the curative effect was evaluated as disease progression.Only 1 patient underwent allogeneic hematopoietic stem cell transplantation after chemotherapy failure and achieved complete remission.By July 2019,6 cases had lost follow-up,3 cases had complete remission,3 cases had partial remission,1 case had stable disease and 5 cases died of disease progression.Conclusion:HV-LPD is a broad-spectrum lymphoproliferative disorder,and its diagnosis should be combined with clinical and pathological manifestations.There is no standard treatment,but hematopoietic stem cell transplantation may be a choice for relapsed/refractory patients.