St. Jude Children's Research Hospital, Memphis, TN, USA.
St. Jude Children's Research Hospital, Memphis, TN, USA.
Best Pract Res Clin Endocrinol Metab. 2020 May;34(3):101448. doi: 10.1016/j.beem.2020.101448. Epub 2020 Jul 3.
Childhood adrenocortical tumors (ACTs) are rare, representing ∼0.2% of all pediatric malignancies and having an incidence of 0.2-0.3 new cases per million per year in the United States, but incidences are remarkably higher in Southern Brazil. At diagnosis, most children show signs and symptoms of virilization, Cushing syndrome, or both. Less than 10% of patients with ACT exhibit no endocrine syndrome at presentation, although some show abnormal concentrations of adrenal cortex hormones. Pediatric ACT is commonly associated with constitutional genetic and/or epigenetic alterations, represented by germline TP53 mutations or chromosome 11p abnormalities. Complete tumor resection is required to achieve cure. The role of chemotherapy is not established, although definitive responses to several anticancer drugs are documented. For patients undergoing complete tumor resection, favorable prognostic factors include young age, small tumor size, virilization, and adenoma histology. Prospective studies are necessary to further elucidate the pathogenesis of ACT and improve patient outcomes.
儿童肾上腺皮质肿瘤（adrenocortical tumors，ACTs）较为罕见，占所有儿科恶性肿瘤的约 0.2%，美国每年每百万人口中有 0.2-0.3 例新发病例，但在巴西南部的发病率明显更高。在诊断时，大多数儿童表现出性早熟、库欣综合征或两者兼有。不到 10%的 ACT 患者在就诊时没有内分泌综合征，尽管有些患者的肾上腺皮质激素浓度异常。儿童 ACT 通常与先天遗传和/或表观遗传改变有关，表现为种系 TP53 突变或 11p 染色体异常。为了达到治愈的目的，需要进行完整的肿瘤切除。化疗的作用尚未确定，尽管已经有明确的证据表明几种抗癌药物有明确的反应。对于接受完整肿瘤切除的患者，有利的预后因素包括年轻、肿瘤体积小、性早熟和腺瘤组织学。需要进行前瞻性研究来进一步阐明 ACT 的发病机制并改善患者的预后。
