Department of Pediatrics, Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229, USA.
Pediatr Blood Cancer. 2012 Nov;59(5):785-92. doi: 10.1002/pbc.24213. Epub 2012 Jul 13.
A number of unique genetic features are observed in hepatoblastoma that have provided insights into the origins of hepatoblastoma. Hallmark cytogenetic changes in hepatoblastoma include the acquisition of additional copies of whole chromosomes and a recurring unbalanced translocation involving 1q. Genetic syndromes are associated with approximately 15% of hepatoblastoma and the understanding and recognition of these syndromes will be important in determining future surveillance studies needed to prevent additional cancers in survivors as well as in some case guide the care of family members. This article will review the genetic changes, both germ line and acquired, that are recurring events in hepatoblastoma, with emphasis on how these genetic changes could work together with other developmental factors and influence cancer predisposition, tumor growth, as well as aid in prognosis. Tumor-specific signatures based on transcriptional or epigenetic alterations will be reviewed that might be used in the future to better diagnose and subtype the disease as well as predict prognosis and response to therapy.
在肝母细胞瘤中观察到一些独特的遗传特征，这些特征为肝母细胞瘤的起源提供了一些见解。肝母细胞瘤的标志性细胞遗传学变化包括整条染色体的额外拷贝的获得，以及涉及 1q 的反复非平衡易位。遗传综合征与大约 15%的肝母细胞瘤相关，了解和认识这些综合征对于确定未来的监测研究以预防幸存者中其他癌症以及在某些情况下指导家庭成员的护理将非常重要。本文将回顾肝母细胞瘤中反复出现的种系和获得性遗传变化，重点介绍这些遗传变化如何与其他发育因素一起作用，影响癌症易感性、肿瘤生长，并有助于预后。还将回顾基于转录或表观遗传改变的肿瘤特异性特征，这些特征可能在未来用于更好地诊断和亚型疾病，以及预测预后和对治疗的反应。
