Hartley A L, Birch J M, Marsden H B, Harris M
Department of Epidemiology and Social Oncology, Christie Hospital and Holt Radium Institute, Manchester.
J Med Genet. 1987 Nov;24(11):664-8. doi: 10.1136/jmg.24.11.664.
Seven cases of malignant melanoma in the close relatives of children with osteosarcoma and chondrosarcoma are described. The association between certain childhood malignancies (adrenal cortical carcinoma, osteosarcoma, chondrosarcoma, retinoblastoma) and malignant melanoma is discussed and it is proposed that in certain families malignant melanoma may be another manifestation of the same gene defect which results in susceptibility to tumours characteristic of the SBLA cancer family syndrome.
本文描述了骨肉瘤和软骨肉瘤患儿近亲中发生的7例恶性黑色素瘤病例。文中讨论了某些儿童恶性肿瘤(肾上腺皮质癌、骨肉瘤、软骨肉瘤、视网膜母细胞瘤)与恶性黑色素瘤之间的关联,并提出在某些家族中,恶性黑色素瘤可能是同一基因缺陷的另一种表现形式,该基因缺陷导致了对遗传性癌家族综合征(SBLA)特征性肿瘤的易感性。