摘要
目的探讨儿童组织细胞肿瘤的临床特点。方法分析4例不同类型组织细胞肿瘤患儿的临床表现、诊断及治疗效果,并结合文献进行总结。结果例1朗格汉斯细胞组织细胞增生症(LCH)伴有BRAF-V600E突变,传统化疗效果差,达拉非尼单药治疗显著,但停药后有复发。例2 Erdheim-Chester disease(ECD)伴有KIT p.M651L错义突变,病变累及垂体及肋骨,未长期治疗,疾病无进展。例3 Rosai-Dorfman disease(RDD)伴有BRAF-V600E突变,除颅内肿块外无其他病灶,肿块切除术后予‘氢化可的松+达拉非尼’治疗半年余,疾病无进展。例4系统性幼年性黄色肉芽肿(SJXG)病变累及肺、肝脏、脾脏、肾脏和颞骨,予LCH方案化疗有部分治疗反应,停药后病灶消退。结论组织细胞肿瘤相关疾病临床表现复杂多样。因其罕见性及临床表现的非特异性,诊断和治疗仍然面临巨大的挑战。
Objective To investigate the clinical features of histiocytic neoplasmsin children.Methods The clinical manifestations,diagnoses,and treatments of four children with different types of histiocytic neoplasms were analyzed,and the related literature was reviewed.Results Case 1 Langerhans cell histiocytosis(LCH)with a BRAF-V600E mutation did not respond to conventional chemotherapy.Dabrafenib monotherapy was effective but did not achieve long-term remission after drug withdrawal.Case 2 Erdheim-Chester disease(ECD)with the KIT p.M651L missense mutation,had lesions involving the pituitary and ribs.The disease did not progress without long-term treatment.Case 3 Rosai-Dorfman disease(RDD)with a rare BRAF-V600E mutation,had no lesions except intracranial mass.The child had been treated with hydrocortisone and dabrafenib for more than half a year after the resection of the mass and the disease had not progressed.Case 4 Juvenile xanthogranuloma(JXG),involving lung,liver,spleen,kidney,and temporal bone,had a partial response to the LCH chemotherapy regime,and some lesions could regress after drug withdrawal.Conclusions The clinical manifestations of histiocytic neoplasms are complex and diverse.Due to its rarity and non-specific clinical manifestations,its diagnosis and treatment are still great challenges.
作者
陈怡君
黄丹萍
陈俊竹
罗杰思
唐燕来
黄礼彬
罗学群
CHEN Yijun;HUANG Danping;CHEN Junzhu;LUO Jiesi;TANG Yanlai;HUANG Libin;LUO Xuequn(Department of Pediatrics,The First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China)
出处
《中国小儿血液与肿瘤杂志》
CAS
2023年第6期373-377,共5页
Journal of China Pediatric Blood and Cancer
