Pio Luca, O'Neill Allison F, Woodley Helen, Murphy Andrew J, Tiao Gregory, Franchi-Abella Stefanie, Fresneau Brice, Watanabe Kenichiro, Alaggio Rita, Lopez-Terrada Dolores, Hiyama Eiso, Branchereau Sophie
Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, USA.
Paediatric Surgery Unit, Université Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
Nat Rev Dis Primers. 2025 May 22;11(1):36. doi: 10.1038/s41572-025-00620-7.
Hepatoblastoma is the most common primary liver cancer in children, with an incidence of approximately 1.5 cases per million children per year. Most cases are sporadic, typically presenting at a median age of 18 months, with only 5% occurring after 4 years of age. Clinical presentation often includes an abdominal mass and, less commonly, abdominal pain, weight loss, jaundice and precocious puberty. Low birth weight is a significant risk factor, along with genetic conditions such as Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18. Screening protocols for hepatoblastoma are recommended for children with predisposing conditions. Medical imaging is crucial for hepatoblastoma diagnosis and staging, with abdominal ultrasonography being the initial modality of choice, followed by abdominal contrast MRI for detailed evaluation and monitoring. Chest computer tomography is indicated to evaluate potential lung metastases. The Pretreatment Extent of Disease (PRETEXT) system is employed for hepatoblastoma staging and for guiding treatment strategies such as surgical resection and chemotherapy. Patients with advanced hepatoblastoma may require liver transplantation. Advancements in surgery and chemotherapy have improved survival rates, with 5-year survival rates exceeding 80-90% in localized disease. However, challenges remain in treating individuals with high-risk and metastatic hepatoblastoma. Ongoing research into treatment stratification, the introduction of novel therapies, including targeted and immune therapies, and the application of otoprotectants are essential to address refractory or recurrent hepatoblastoma and to increase the overall survival of patients. Long-term quality of life and the management of treatment-related sequelae are becoming increasingly important as survival rates improve.
肝母细胞瘤是儿童最常见的原发性肝癌,每年每百万儿童中的发病率约为1.5例。大多数病例为散发性,通常在18个月龄时出现,仅有5%发生在4岁以后。临床表现通常包括腹部肿块,较少见的有腹痛、体重减轻、黄疸和性早熟。低出生体重是一个重要的危险因素,其他危险因素还包括诸如贝克威思-维德曼综合征、辛普森-戈拉比-贝梅尔综合征、家族性腺瘤性息肉病和18三体综合征等遗传疾病。对于有易患因素的儿童,建议进行肝母细胞瘤筛查方案。医学影像学对于肝母细胞瘤的诊断和分期至关重要,腹部超声是首选的初始检查方式,随后进行腹部增强MRI以进行详细评估和监测。胸部计算机断层扫描用于评估潜在的肺转移。疾病治疗前范围(PRETEXT)系统用于肝母细胞瘤分期以及指导手术切除和化疗等治疗策略。晚期肝母细胞瘤患者可能需要肝移植。手术和化疗的进展提高了生存率,局限性疾病的5年生存率超过80% - 90%。然而,治疗高危和转移性肝母细胞瘤患者仍面临挑战。对治疗分层的持续研究、引入包括靶向治疗和免疫治疗在内的新疗法以及应用耳保护剂对于解决难治性或复发性肝母细胞瘤以及提高患者的总体生存率至关重要。随着生存率的提高,长期生活质量和治疗相关后遗症的管理变得越来越重要。