儿童肾上腺皮质癌16例临床病理分析

Pediatric adrenal cortical carcinoma:a clinicopathological analysis of 16 cases

目的探讨儿童肾上腺皮质癌的临床及病理特点、诊断和鉴别诊断、评估方法及预后,以加深并提高对本病的认识。方法对2006年1月至2023年1月首都儿科研究所附属儿童医院经病理确诊的16例肾上腺皮质癌患儿的临床及病理资料进行回顾性分析,并对其临床特征、组织学特点、免疫表型及鉴别诊断等进行归纳总结。在万方数据库和中国知网中,以“肾上腺皮质癌”“儿童”“病理”为关键词查询2018年至2024年的文献。在Pubmed数据库中,以“adrenal corti-cal carcinoma”“Child/Pediatric”“Pathology”为关键词查询2018年至2024年的文献,进行相关文献复习。结果16例患儿中男性5例,女性11例,发病年龄5~159个月(平均70.94个月)。10例出现肿瘤生长相关表现(腹部膨隆及包块),5例有库欣综合征表现,2例为影像学偶然发现。发病时区域淋巴结转移2例、肝转移5例、肺转移3例,5例见静脉瘤栓。肿瘤最大径3.5~21 cm(平均10.37 cm),重量22~1220 g(平均344.88 g)。组织学检查瘤细胞形态多样,异型性明显,可见瘤巨细胞(16/16)及病理性核分裂象(13/16),均见包膜和/或脉管侵犯,其中14例见明显出血、坏死及钙化。肿瘤细胞阳性表达SF1(16/16)、IGF2(15/16)、Melan-A(10/16)、a-inhibin(9/16)、Syn(16/16)、Calretinin(15/16)及Vimentin(16/16)等,Ki-67为2%~80%。文献复习了中外文献共66例病例,约89%的患儿为有分泌功能的肿瘤,约45%的患儿发病时已伴有远处转移,组织学检查结果与本文病例相似。结论儿童肾上腺皮质癌发病率虽低,但具有较高的侵袭性,约半数患者在就诊时已发生远处转移。必须结合临床特征、肿瘤大小及重量、包膜及脉管浸润、组织学形态(肿瘤分化程度和瘤细胞增殖活性)、免疫组化结果及分子检测等进行综合评估。

Objective To investigate the clinicopathological features,diagnosis and differential diagnosis,assessment methods and prognosis of pediatric adrenal cortical carcinoma and to deepen and improve the understanding of this disease.Methods The clinical and pathological data of 16 pediatric adrenal cortical carcinoma pathologically diagnosed in Children's Hospital of Capital Institute of Pediatrics from January 2006 to January 2023 were collected for retrospective analysis.The clinical features,histological features,immuno-phenotype and differential diagnosis were summarized,and relevant literature was reviewed.Results There were 5 males and 11 females among the 16 patients.Tumor growth-related findings(abdominal swelling and mass)were found in 10 cases,Cushing's syndrome was found in 5 cases,and imaging findings were incidental in 2 cases.Regional lymph node metastasis occurred in 2 cases.Liver metastasis was found in 5 cases,lung metastasis in 3 cases,and venous tumor thrombus in 5 cases.The range of maximum tumor diameter was 3.5-21cm(mean 10.37cm),and the weight was 22-1220g(mean 344.88g).The tumor cells were diverse in morphology,with obvious atypia,giant cells(16/16)and atypical mitotic figures(13/16),and capsular and/or vascular invasion.Bleeding,necrosis and calcification was observed in 14 cases.Tumor cells showed positive expressions of SF1(16/16),IGF2(15/16),Melan-A(10/16),a-inhinbin(9/16),Syn(16/16),Calretinin(15/16),and Vimentin(16/16)in immunohistochemical evaluation.Ki-67 ranges from 2%to 80%.The literature reviewed about 66 cases,about 89%of the children had secretory tumors,about 45%of the children had distant metastasis at the onset,histology was similar to the present case.Conclusions Pediatric adrenocortical carcinoma has a low incidence and is highly aggressive.About half of the patients had developed distant metastasis at the time of visit.The evaluation of adrenocortical carcinoma in children must be combined to make a comprehensive evaluation with clinical features,tumor size and weight,capsule and vascular invasion,histological morphology(degree of tumor differentiation and tumor cell proliferation activity),immunohistochemical results and molecular detection.