Department of Pediatrics, Pediatric Oncology and Hematology, Lund University, Skane University Hospital, Lund, Sweden.
Translational Cancer Research, Medicon Village, Lund University, Lund, Sweden.
BMC Cancer. 2017 Dec 19;17(1):868. doi: 10.1186/s12885-017-3899-8.
Recent studies indicate that one of four childhood cancers can be attributed to hereditary genetic abnormalities.
The Lund Childhood Cancer Genetic study includes newly diagnosed childhood cancer patients as well as childhood cancer survivors visiting the Department of Pediatrics or the Late Effect Clinic at Skåne University Hospital, Lund, Sweden. Questionnaires regarding family history of cancer and blood samples were provided. Reported data were validated and extended by use of the Swedish Population- and Cancer Registries. Demographics in families with one case of childhood cancer (FAM1) were investigated and compared to families with multiple cases of childhood cancer (FAM > 1) as well as to childhood cancer in the general population.
Forty-one out of 528 families (7.8%) had more than one case of childhood cancer. In 23 families the affected children were relatives up to a 3rd degree (4.4%). In FAM > 1, 69.2% of the children with leukemia and 60% of those with tumors in the central nervous system (CNS) had a childhood relative with matching diagnosis, both significantly higher than expected. Significantly more female than male patients were observed in FAM > 1 compared to FAM1. This female predominance was most striking in childhood leukemia (77% female) and also, yet to a lesser extent, in CNS tumors (68% female).
We conclude that the high proportion of children with leukemia or CNS tumors in FAM > 1 having a childhood relative with the same diagnosis suggests a hereditary background. Moreover, we report a female predominance in childhood leukemia and childhood CNS tumors in FAM > 1, which may indicate a hereditary gender-specific risk factor in these families.
最近的研究表明，四种儿童癌症中有一种可以归因于遗传性遗传异常。
隆德儿童癌症遗传研究包括新诊断的儿童癌症患者以及在瑞典隆德斯科讷大学医院儿科或晚期效应诊所就诊的儿童癌症幸存者。提供了有关癌症家族史和血液样本的问卷。通过使用瑞典人口和癌症登记处报告的数据进行了验证和扩展。调查了有一例儿童癌症（FAM1）的家庭中的人口统计学数据，并将其与有多例儿童癌症（FAM > 1）的家庭以及普通人群中的儿童癌症进行了比较。
528 个家庭中有 41 个（7.8%）有多个儿童癌症病例。在 23 个家庭中，受影响的孩子是 3 级以内的亲属（4.4%）。在 FAM > 1 中，69.2%的白血病患儿和 60%的中枢神经系统（CNS）肿瘤患儿有与之匹配的诊断的儿童亲属，均显著高于预期。与 FAM1 相比，在 FAM > 1 中观察到更多的女性患者而非男性患者。这种女性优势在 FAM > 1 中的儿童白血病（77%为女性）中最为明显，在中枢神经系统肿瘤中也同样明显（68%为女性）。
我们得出的结论是，FAM > 1 中患有白血病或中枢神经系统肿瘤的儿童中，有相当比例的儿童有与之相同诊断的亲属，这表明存在遗传背景。此外，我们报告称，FAM > 1 中儿童白血病和儿童中枢神经系统肿瘤存在女性优势，这可能表明这些家庭中存在遗传性别特异性风险因素。
