Porter D E, Holden S T, Steel C M, Cohen B B, Wallace M R, Reid R
MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland.
J Bone Joint Surg Br. 1992 Nov;74(6):883-6. doi: 10.1302/0301-620X.74B6.1447251.
We studied the pedigrees of 17 index patients with osteosarcoma, recording malignant disease and cause of death for first- and second-degree relatives. There were seven cancers and five cancer deaths per 2151.5 person-years in first-degree relatives of osteosarcoma patients under the age of 50 years, a significantly greater incidence than in an age- and sex-matched population group (p < 0.001). This excess of malignancy was largely due to two families which fulfilled the criteria for the Li-Fraumeni cancer family syndrome. Both of these families were shown to have the genetic alterations in the p53 gene which have been implicated in this syndrome. Our study suggests that orthopaedic surgeons seeing new cases of osteosarcoma should arrange screening for familial malignancy.
我们研究了17例骨肉瘤索引患者的家系，记录了一级和二级亲属的恶性疾病及死亡原因。在50岁以下骨肉瘤患者的一级亲属中，每2151.5人年有7例癌症和5例癌症死亡，其发病率显著高于年龄和性别匹配的人群组（p<0.001）。这种恶性肿瘤的超额发生主要归因于两个符合李-弗劳梅尼癌症家族综合征标准的家族。这两个家族均显示出与该综合征相关的p53基因的遗传改变。我们的研究表明，诊治骨肉瘤新病例的骨科医生应安排进行家族性恶性肿瘤筛查。
