摘要
目的探讨儿童肾上腺外嗜铬细胞瘤或副神经节瘤(PGL)的诊断、治疗及遗传特征。方法回顾分析1例经临床和基因分析明确诊断的PGL患儿的临床资料,并复习国内外肾上腺外嗜铬细胞瘤病例。结果男性患儿,10岁9个月,因腹部包块入院,血压正常。尿儿茶酚胺代谢产物正常,3-甲基-4羟苦杏仁酸(VMA)和高香草酸(HVA)未见升高。术后病理提示肿瘤伴有恶性成分;颈、胸、腹CT平扫加增强未见异常,头颅加全脊柱核磁平扫加增强未见异常;家系基因检测结果提示SBHB基因有变异。确诊为良性无功能型PGL。仅手术治疗,未行化疗,仍在门诊随访。结论 PGL诊断依赖于病理结果,其分型需要根据血尿儿茶酚胺代谢产物、影像学表现、基因测序和病理分析,是否化疗取决于有无转移及复发。
Objectives To investigate the diagnosis, treatment and genetic characteristics of pheochromocytoma（PGL） in children. Methods Clinical characters and gene mutation analysis of a child with PGL were retrospectively analyzed and discussed;similar cases in the literature were reviewed. Results The patient was a 10-year old-boy without obvious complaint but transient headache. Urine 3 methyl-4 hydroxy mandelic acid and homovanillic acid were in normal range, and the pathological reports revealed some malignant cells located at the margin of the tumor, while CT scan of the neck, chest and abdomen were negative, and the cranial plus spine revealed no significant abnormalities by MRI. Gene test of the patient and his parents found mutations in SBHB gene. Thus the diagnosis was confirmed as benign, nonfunctional, extra adrenal pheochromocytoma. The patient was treated with surgery, without chemotherapy, and followed up regularly. Conclusions The diagnosis of PGL relies on pathological analysis, and the classification was made by catecholamine metabolites, imaging results, and gene sequencing. Implementation of chemotherapy was dependent upon if there is any distant or invasive metastasis, or a relapse is present.
作者
王永韧
石燚
黄婕
方拥军
WANG Yongren;SHI Yi;HUANG Jie;FANG Yongjun(Department of Hematology and Oncology, Children’s Hospital of Nanjing Medical University . Key Laboratory of Hematology, Nanjing Medical University, Nanjin 210008, Jiangsu China;Department of Endocrinology, Children’s Hospital of Nanjing Medical University, Nanjin 210008, Jiangsu China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第5期331-333,共3页
Journal of Clinical Pediatrics
关键词
肾上腺外
副神经节瘤
治疗
儿童
extra adrenal
pheochromocytoma
therapy
child
