分子定义的先天性疾病中的肝母细胞瘤。
Hepatoblastoma in molecularly defined, congenital diseases.
机构信息
Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
出版信息
Am J Med Genet A. 2022 Sep;188(9):2527-2535. doi: 10.1002/ajmg.a.62767. Epub 2022 Apr 28.
Abstract
Beckwith-Wiedemann spectrum, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18 are the most common congenital conditions associated with an increased incidence of hepatoblastoma (HB). In patients with these genetic disorders, screening protocols for HB are proposed that include periodic abdominal ultrasound and measurement of alpha-fetoprotein levels. Surveillance in these children may contribute to the early detection of HB and possibly improve their chances of overall survival. Therefore, physicians must be aware of the high HB incidence in children with certain predisposing genetic diseases.
摘要
贝克威思-威德曼综合征、辛普森-戈尔伯齐-比姆尔综合征、家族性腺瘤性息肉病和 18 三体是与肝母细胞瘤（HB）发病率增加最相关的常见先天性疾病。在患有这些遗传疾病的患者中，提出了用于 HB 的筛查方案，包括定期腹部超声检查和甲胎蛋白水平测量。对这些儿童进行监测可能有助于 HB 的早期发现，并可能提高其总体生存率。因此，医生必须意识到某些遗传易感性疾病患儿中 HB 的高发病率。
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