18例儿童肾上腺皮质癌临床特点及预后分析

Analysis on clinical features and prognosis of adrenocortical carcinoma in 18 children

目的总结儿童肾上腺皮质癌初发及复发患者的临床特点、治疗及预后。方法搜集2015—2021年间就诊于上海交通大学医学院附属新华医院的肾上腺皮质癌患儿资料,回顾分析其诊疗及预后情况。结果共18例患儿确诊,男女比率为1∶1.25,中位发病年龄3岁9个月(5个月至9岁10个月)。Ⅰ、Ⅱ、Ⅲ、Ⅳ期患者分别为3、7、6、2例。13例(72%)患者具有内分泌功能的肿块。Tp53基因检测率44%(8/18),致病基因携带3/8。18例患者均接受了手术、化疗、米托坦口服维持、放疗(必要时)的综合治疗。中位随访时间24个月(9~64个月)。5例患者仍在治疗中,1例失访,12例已完成治疗并规律随访。无瘤生存率58%,总生存率75%,死亡率25%。复发患者8例中7例为初次手术后复发(术后随访观察者),肺部为最常见的复发后转移部位(6/8),其次为肝脏(5/8)。未行区域淋巴结清扫术可能是复发的危险因素。3例死亡病例均为复发患者且伴有双肺转移。结论肾上腺皮质癌患者应争取早期诊断、规范治疗及全程随访。针对术中评估为Ⅱ期及以上的患者建议行区域淋巴结清扫术。进展期患儿的治疗方案有待进一步探索。

Objective To summarize the clinical features,management and prognosis of new-onset or recurrent patients with pediatric adrenocortical carcinoma.Methods The clinical data of children who were diagnosed with adrenocortical carcinoma from 2015 to 2021 at Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine ware enrolled.The medical records of diagnosis,treatment and prognosis were analyzed retrospectively.Results There were 18 patients who were diagnosed with adrenocortical carcinoma.Male to female ratio was 1 vs.1.25.The median age of onset was 3.7(0.4 to 9.8)years old.StageⅠ,Ⅱ,Ⅲ,Ⅳpatients were 3,7,6,and 2,respectively.13 cases(72%)presented with hormonal hypersecretion.Eight patients consented for germline Tp53 testing.Pathogenicity-related gene was 3/8.All patients received combined treatment including surgery,chemotherapy,mitotane and radiotherapy(if necessary).The median follow-up was 24(9 to 64)months.Five children were under treatment up to the last follow-up,one case was lost in follow-up,while 12 cases had already finished the treatment and been followed up regularly.The 2-year disease-free survival was 58%,and overall survival was 75%.The mortality was 25%.There were 8 patients with recurrence disease.Among them,7 cases who were closely followed were prone to recurrence after primary operation.The lung(6/8)was the most common metastasis site after relapse when the liver(5/8)was the second most common site.Not receiving retroperitoneal lymph node dissection may be a risk factor for relapse.Three patients died with recurrence disease and lung metastasis.Conclusions We emphasized the importance of early detection,standard treatment and whole follow up for adrenocortical carcinoma.The retroperitoneal lymph node dissection was recommended to be done in patients who were assessed as stageⅡor higher stage of disease during operations.More research is needed for treatment of patients with advanced disease.