Rodriguez-Galindo Carlos, Figueiredo Bonald C, Zambetti Gerard P, Ribeiro Raul C
Department of Hematology-Oncology, St. Jude Children's Research Hospital, 332 N. Lauderdale, Memphis, TN 38105-2794, USA.
Pediatr Blood Cancer. 2005 Sep;45(3):265-73. doi: 10.1002/pbc.20318.
Childhood adrenocortical tumors (ACT) are very aggressive endocrine neoplasms whose incidence is quite low. Little is known about their pathogenesis, clinical presentation, and optimal treatment. In recent years, however, new information has been derived from the International Pediatric Adrenocortical Tumor Registry (IPACTR), and new clues to its pathogenesis have emerged. To provide an overview of the available data that may apply to pediatric ACT, we reviewed the epidemiology, pathogenesis, and treatment of ACT in adults and in children. Germline TP53 mutation is almost always the predisposing factor in childhood ACT. A unique germline mutation (TP53-R337H) has been described in Southern Brazil, where the incidence of ACT is 10-15 times the general incidence. Childhood ACT typically present during the first 5 years of life and has female predominance. Hormone hyperproduction is almost universal, and most patients present with virilization. Two-thirds of patients have resectable tumors. Surgery is the definitive treatment for ACT, and a curative complete resection should always be attempted. Cisplatin-based chemotherapy with mitotane is indicated for unresectable or metastatic disease, although its impact on overall outcome is slight. In childhood ACT, age, tumor size, and tumor resectability are the most important prognostic indicators. Outcome is stage-dependent; patients with small, resectable tumors have survival rates in excess of 80%, whereas the outcome for patients with unresectable disease is dismal. Patients with large, resectable tumors have an intermediate outcome. Childhood ACT are rare, but their unique epidemiology appear to implicate novel oncogenic pathways that are unique to the pediatric population. Multi-institutional and prospective studies are necessary to further our understanding of the pathogenesis and to improve outcomes.
儿童肾上腺皮质肿瘤（ACT）是极具侵袭性的内分泌肿瘤，发病率很低。人们对其发病机制、临床表现及最佳治疗方法知之甚少。然而，近年来，国际儿童肾上腺皮质肿瘤登记处（IPACTR）提供了新信息，其发病机制也出现了新线索。为了概述可能适用于儿童ACT的现有数据，我们回顾了成人和儿童ACT的流行病学、发病机制及治疗方法。胚系TP53突变几乎总是儿童ACT的易感因素。巴西南部曾报道过一种独特的胚系突变（TP53-R337H），该地区ACT的发病率是一般发病率的10至15倍。儿童ACT通常在生命的头5年出现，且女性居多。激素分泌过多几乎很常见，大多数患者表现为男性化。三分之二的患者肿瘤可切除。手术是ACT的决定性治疗方法，应始终尝试进行根治性完全切除。对于不可切除或转移性疾病，顺铂联合米托坦化疗是适用的，尽管其对总体预后的影响较小。在儿童ACT中，年龄、肿瘤大小和肿瘤可切除性是最重要的预后指标。预后取决于分期；肿瘤小且可切除的患者生存率超过80%，而不可切除疾病患者的预后则很差。肿瘤大但可切除的患者预后中等。儿童ACT很罕见，但其独特的流行病学似乎暗示了儿科人群特有的新型致癌途径。需要开展多机构前瞻性研究，以进一步了解发病机制并改善治疗结果。
