Wang R F, Guan W B, Li L X, Qiao M, Jiang R Q, Wang L F
Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Zhonghua Bing Li Xue Za Zhi. 2024 Jan 8;53(1):40-45. doi: 10.3760/cma.j.cn112151-20230901-00118.
To investigate the clinicopathological features, diagnosis and differential diagnosis of adrenal cortical carcinoma (ACC) in children. Twenty-five children with ACC diagnosed in the Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from March 2014 to August 2022 were retrospectively analyzed. The related literature was reviewed. A total of 25 children with ACC were collected, including 11 males and 14 females, with a male to female ratio of 1.0∶1.3. The patient ages ranged from 8 months to 14 years (median, 4 years). Eighteen cases with clinical data had functional tumors (18/22, 81.8%) presenting with virilization or precocious puberty (15/18), symptoms related to hypercortisolism (8/18) or endocrine symptoms mixed with both (5/18), while 3 cases (3/22, 13.6%) had unknown clinical data. The clinical manifestations of four patients with nonfunctional tumors were an abdominal mass and/or abdominal pain, walking instability and others. Grossly, the average maximum diameter of the tumor was 9.4 cm. Most of the tumors were nodular and partially encapsuled. The cut surfaces were gray or gray brown, soft with hemorrhage. Histologically, the tumor cells were diffusely distributed, separated by a vascular-rich network. The tumor cells were large, with distinct nucleoli, abundant eosinophilic or clear cytoplasm, and round or oval nuclei. The mitotic index was high, and atypical mitoses were common. Necrosis, calcification, capsule invasion or/and venous invasion were present. In some cases, the tumor invaded the surrounding soft tissues or kidneys. Immunohistochemically, the tumor cells were diffusely positive for syn and SF1 and focally positive for α-inhibin, Melan A and Calretinin, but negative for CgA. Ki-67 proliferation index ranged from 2%-90%. TP53 gene status was examined in 7 cases, in which mutations were detected in 4 cases. Follow-up data was obtained in 21 patients, among whom 18 received chemotherapy and 3 received radiotherapy. Distant metastasis occurred in 13 patients. Median progression-free survival (PFS) was 11.2 months and median overall survival (OS) was 54.7 months. Patients aged less than 5 years had a better prognosis for OS (<0.05) than the older ones (≥5 years), but a similar PFS (>0.05). Male patients and Ki-67 proliferation index <15% had a better prognosis tendency for OS, but there was no statistically significant difference (>0.05). ACC in children is a rare, often functional tumor associated with Li-Fraumeni genetic syndrome and has a poor prognosis. Diagnosis and differential diagnosis require a combination of morphological, phenotypic and clinical analysis.
探讨儿童肾上腺皮质癌（ACC）的临床病理特征、诊断及鉴别诊断。回顾性分析2014年3月至2022年8月在上海交通大学医学院附属新华医院病理科确诊的25例儿童ACC病例，并复习相关文献。共收集25例儿童ACC病例，其中男性11例，女性14例，男女比例为1.0∶1.3。患者年龄8个月至14岁（中位数4岁）。18例有临床资料的病例中，功能性肿瘤18例（18/22，81.8%），表现为男性化或性早熟（15/18）、高皮质醇血症相关症状（8/18）或两者混合的内分泌症状（5/18），3例（3/22，13.6%）临床资料不详。4例无功能性肿瘤患者的临床表现为腹部肿块和/或腹痛、行走不稳等。大体上，肿瘤平均最大直径为9.4 cm。大多数肿瘤为结节状，部分有包膜。切面呈灰白色或灰棕色，质软，有出血。组织学上，肿瘤细胞弥漫分布，由富含血管的网络分隔。肿瘤细胞大，核仁明显，胞质丰富嗜酸性或透明，核呈圆形或椭圆形。有丝分裂指数高，非典型有丝分裂常见。存在坏死、钙化、包膜侵犯或/和静脉侵犯。部分病例肿瘤侵犯周围软组织或肾脏。免疫组化显示，肿瘤细胞突触素（syn）和类固醇生成因子1（SF1）弥漫阳性，α-抑制素、Melan A和钙视网膜蛋白局灶阳性，嗜铬粒蛋白A（CgA）阴性。Ki-67增殖指数为2% - 90%。7例检测了TP53基因状态，其中4例检测到突变。21例患者获得随访数据，其中18例接受化疗，3例接受放疗。13例发生远处转移。中位无进展生存期（PFS）为11.2个月，中位总生存期（OS）为54.7个月。年龄小于5岁的患者OS预后优于年龄较大（≥5岁）者（<0.05），但PFS相似（>0.05）。男性患者及Ki-67增殖指数<15%者OS有较好的预后趋势，但差异无统计学意义（>0.05）。儿童ACC是一种罕见的、常为功能性的肿瘤，与李-弗劳梅尼综合征相关，预后较差。诊断及鉴别诊断需要形态学、表型及临床分析相结合。
