视网膜母细胞瘤

Retinoblastoma.

作者信息

Rodriguez-Galindo Carlos, Orbach Darren B, VanderVeen Deborah

机构信息

Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, 450 Brookline Avenue, D3-133, Boston, MA 02215, USA.

Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02215, USA.

出版信息

Pediatr Clin North Am. 2015 Feb;62(1):201-23. doi: 10.1016/j.pcl.2014.09.014.

DOI:10.1016/j.pcl.2014.09.014

PMID:25435120

Abstract

Retinoblastoma is the most common neoplasm of the eye in childhood, and represents 3% of all childhood malignancies. Retinoblastoma is a cancer of the very young; two-thirds are diagnosed before 2 years of age and 95% before 5 years. Retinoblastoma presents in 2 distinct clinical forms: (1) a bilateral or multifocal, heritable form (25% of all cases), characterized by the presence of germline mutations of the RB1 gene; and (2) a unilateral or unifocal form (75% of all cases), 90% of which are nonhereditary. The treatment of retinoblastoma is multidisciplinary and is designed primarily to save life and preserve vision.

摘要

视网膜母细胞瘤是儿童期最常见的眼部肿瘤，占所有儿童恶性肿瘤的3%。视网膜母细胞瘤是一种发生于幼儿的癌症；三分之二的病例在2岁前被诊断出来，95%在5岁前被诊断出来。视网膜母细胞瘤有两种不同的临床形式：（1）双侧或多灶性的遗传性形式（占所有病例的25%），其特征是存在RB1基因的种系突变；（2）单侧或单灶性形式（占所有病例的75%），其中90%为非遗传性。视网膜母细胞瘤的治疗是多学科的，主要目的是挽救生命和保留视力。