Molecular genetics of retinoblastoma.
Molecular genetics of retinoblastoma.
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视网膜母细胞瘤的分子遗传学。
DOI：
10.1097/00004397-199303330-00010
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发表时间：
1993
影响因子：
--
通讯作者：
Donoso,LA
中科院分区：
文献类型：
--
作者：
Zhang,K;Wang,MX;Munier,F;Roth,D;Mastrangelo,D;Chung,S;Shields,JA;Donoso,LA
最近对视网膜母细胞瘤基因的鉴定和鉴定大大增加了我们对人类肿瘤发生的基本机制的了解。视网膜母细胞瘤是儿童最常见的原发眼内恶性肿瘤。它是一种高度恶性但很容易治疗的肿瘤。大约40%的视网膜母细胞瘤病例是遗传性的[1-3]，表现为孟德尔常染色体显性遗传。患有这种可遗传疾病的儿童通常会患上四到五个肿瘤，这些肿瘤在平均15个月大的时候被诊断出来。遗传性视网膜母细胞瘤患者患继发性原发恶性肿瘤的风险也比普通人群高，尤其是肉瘤[4-6]。视网膜母细胞瘤基因的突变也在其他更常见的恶性肿瘤患者中发现，如乳腺癌[7，8]、膀胱[9]、肺癌[10]和前列腺癌[11-14]。相比之下，散发性或非遗传性视网膜母细胞瘤约占病例的60%。在这些病例中，肿瘤通常是单侧的，且确诊时间明显较晚(平均年龄为27个月)。然而，值得注意的是，发现15%的单侧视网膜母细胞瘤患者具有遗传性突变[5，7]。
The recent identification and characterization of the retinoblastoma gene has substantially increased our knowledge of the fundamental mechanisms in human oncogenesis. Retinoblastoma is the most common primary intraocular malignancy in children. It is a highly malignant but readily treatable tumor. Approximately 40% of retinoblastoma cases are hereditary [1–3], being transmitted as a mendelian autosomal dominant trait. A child with the heritable disease typically develops four to five tumors that are diagnosed at a mean age of 15 months. Patients with heritable retino-blastoma are also at a greater risk than the general population to develop secondary primary malignancies, particularly sarcomas [4–6]. Mutations in the retinoblastoma gene have also been found in patients with other more common malignancies such as breast [7, 8], bladder [9], lung [10], and prostate carcinomas [11–14]. In contrast, sporadic or nonheritable retinoblastoma accounts for approximately 60% of cases. In these cases, the tumors are typically unilateral, unifocal, and diagnosed at a signifi-cantly later time (mean age of 27 months). Of note; however, is the finding that 15% of patients with unilateral retinoblastoma have the inherited mu-tations [5, 7].