Mann J R, Dodd H E, Draper G J, Waterhouse J A, Birch J M, Cartwright R A, Hartley A L, McKinney P A, Stiller C A
Children's Hospital, Birmingham, UK.
Br J Cancer. 1993 Aug;68(2):357-63. doi: 10.1038/bjc.1993.340.
Several studies have revealed an excess of malformations in children with certain malignancies. A few environmental causes have been identified which may damage the foetus and lead to malformation and cancer. However, most of the numerous recognised cancer/malformation syndromes are genetically determined. This report describes a case-control study of 555 newly diagnosed children with cancer and 1,110 matched controls, chosen from general practitioner lists (GP controls) and hospital admissions (H controls). Their parents were interviewed on topics of possible aetiological significance and medical records were checked to confirm reports at interview. The numbers of congenital malformations in the index and GP control children, and the relatives of the index children, the GP and H controls are described. There were more children with malformations among the cases (60/555) than among the GP controls (27/555), P < 0.001. The abnormalities in the cases included eight with specific chromosomal/genetic conditions (e.g. Down's syndrome, XY gonadal dysgenesis, Von Recklinghausen's neurofibromatosis, Goldenhar's syndrome) whereas only one GP control child had a chromosomal defect (P < 0.05). Five case children but no GP controls had neural tube defects; this is not statistically significant. No excess of malformations was found in the siblings of cases compared with GP and H control siblings. Case mothers had a small excess of malformations (22/555) compared with GP controls (8/555), P < 0.05. Among more distant relatives the results were difficult to interpret because of the relatively small numbers in the diagnostic subgroups and because of apparent under reporting in grandparents, but no striking differences were seen between case and control relatives. The excess of malformations found in children with cancer, compared with controls, without a similar excess of malformations in their close relatives may indicate that in some (perhaps very roughly one in 20) cases antenatal events may lead both to the malformation and the malignancy.
多项研究表明，某些恶性肿瘤患儿中存在过多的先天畸形。已确定了一些可能损害胎儿并导致畸形和癌症的环境因素。然而，众多已确认的癌症/畸形综合征大多是由基因决定的。本报告描述了一项病例对照研究，研究对象为555名新诊断的癌症患儿以及1110名匹配的对照，对照选自全科医生名单（全科医生对照）和医院入院患者（医院对照）。对他们的父母就可能具有病因学意义的话题进行了访谈，并检查了医疗记录以证实访谈中的报告。描述了索引病例和全科医生对照儿童、索引病例儿童的亲属、全科医生对照和医院对照中的先天畸形数量。病例组中患有畸形的儿童（60/555）比全科医生对照组（27/555）更多，P<0.001。病例组中的异常包括8例患有特定染色体/基因疾病（如唐氏综合征、XY性腺发育不全、冯·雷克林豪森神经纤维瘤病、戈尔登哈综合征），而只有1名全科医生对照儿童有染色体缺陷（P<0.05）。5例病例儿童有神经管缺陷，而全科医生对照组中没有；这在统计学上不显著。与全科医生对照和医院对照的兄弟姐妹相比，病例组的兄弟姐妹中未发现畸形过多的情况。病例组母亲的畸形发生率略高于全科医生对照组（22/555对8/555），P<0.05。在更远的亲属中，由于诊断亚组中的数量相对较少以及祖父母中明显的报告不足，结果难以解释，但病例组和对照组亲属之间未发现明显差异。与对照组相比，癌症患儿中发现的畸形过多，而其近亲中没有类似的畸形过多情况，这可能表明在某些（可能大约每20例中有1例）情况下，产前事件可能导致畸形和恶性肿瘤。
