Birch J M, Hartley A L, Marsden H B, Harris M, Swindell R
Br J Cancer. 1984 Mar;49(3):325-31. doi: 10.1038/bjc.1984.51.
Information was obtained on the health status or cause of death in the mothers of a population-based series of 143 children with soft tissue sarcomas. Among these mothers there were 6 cases of breast cancer. All 6 women were pre-menopausal and 2 had bilateral disease. This represents a significant 3-fold excess risk of breast cancer. Malignant disease had occurred in 6 other women whose ages at diagnosis ranged from 33 to 58 years. This was not significantly in excess of expectation. The incidence of cancer among mothers of various sub-groups of children was computed. For breast cancer mothers of: boys, children who were less than the median age at diagnosis, and children who had pelvic tumours had a greater excess risk than the group as a whole. Among those sub-groups of mothers the highest excess risk was 13.5. For other cancers, no sub-group showed an incidence which was significantly above the expected. A high proportion of infiltrating lobular carcinoma was found among the breast cancers, and histological type may indicate familial disease. These findings are consistent with the cancer family syndrome described by Li & Fraumeni in 1969, but the present results suggest that a higher proportion of childhood soft tissue sarcoma than was hitherto suspected may have a genetic aetiology. Further pedigree and laboratory studies may help to identify familial cases at the time of the child's diagnosis.
我们获取了一系列基于人群的143例儿童软组织肉瘤患者母亲的健康状况或死因信息。在这些母亲中，有6例患乳腺癌。这6名女性均处于绝经前，其中2例为双侧患病。这代表着乳腺癌风险显著高出3倍。另外6名女性患有恶性疾病，她们确诊时的年龄在33岁至58岁之间。这并未显著超出预期。我们计算了不同儿童亚组母亲的癌症发病率。对于乳腺癌而言，男孩的母亲、诊断时年龄小于中位数的儿童的母亲以及患有盆腔肿瘤的儿童的母亲，其风险高出整体人群的幅度更大。在这些母亲亚组中，最高的风险高出幅度为13.5。对于其他癌症，没有任何亚组的发病率显著高于预期。在乳腺癌病例中发现了高比例的浸润性小叶癌，组织学类型可能表明存在家族性疾病。这些发现与1969年Li和Fraumeni描述的癌症家族综合征一致，但目前的结果表明，与迄今所怀疑的相比，更高比例的儿童软组织肉瘤可能具有遗传病因。进一步的家系和实验室研究可能有助于在儿童诊断时识别出家族性病例。
