Sorsby A
Br Med J. 1972 Jun 3;2(5813):580-3. doi: 10.1136/bmj.2.5813.580.
Ten survivors of sporadic bilateral retinoblastoma had 14 offspring, of whom eight were affected, seven of them in both eyes. Other reports from the literature raise the total of similar unselected cases to 19 survivors with a total of 39 offspring, of whom 17 were affected in both eyes and three in one eye.The high incidence of the bilateral affection in dominantly inherited retinoblastoma-as recorded in the literature-and in the offspring of survivors from sporadic bilateral retinoblastoma, as reported in the present study, establish all cases of bilateral retinoblastoma as a dominant disorder either in transmission or as a new mutation. This disorder, though fully or almost fully penetrant, is not always fully expressed. A small proportion, probably about 5 to 10% of all cases of the much more common sporadic unilateral affection, are in fact incompletely expressed germinal mutations for bilateral retinoblastoma. There is some evidence that histological appearances may distinguish these potentially transmissible unilateral tumours from the mass of unilateral retinoblastoma which have no genetic significance.
10例散发性双侧视网膜母细胞瘤幸存者育有14个后代，其中8例患病，7例双眼均患病。文献中的其他报告使类似的非选择性病例总数增至19例幸存者，共有39个后代，其中17例双眼患病，3例单眼患病。如文献中所记载的，显性遗传视网膜母细胞瘤中双侧患病的高发病率，以及本研究报告的散发性双侧视网膜母细胞瘤幸存者后代中的高发病率，表明所有双侧视网膜母细胞瘤病例在遗传传递或作为新发突变方面均为显性疾病。这种疾病虽然完全或几乎完全显性，但并不总是完全表现出来。在更为常见的散发性单侧病例中，可能约5%至10%的病例实际上是双侧视网膜母细胞瘤不完全表现的生殖细胞突变。有一些证据表明，组织学表现可能将这些具有潜在遗传性的单侧肿瘤与大量无遗传意义的单侧视网膜母细胞瘤区分开来。
