In children with cancer, specific clinical features such as physical anomalies, occurrence of cancer in young relatives, specific cancer histologies, and unique mutation/methylation signatures may indicate the presence of an underlying cancer predisposition syndrome (CPS). The proportion of children with a cancer type suggesting a CPS among all children with cancer is unknown. To determine the proportion of children with cancer types suggesting an underlying CPS among children with cancer. We evaluated the number of children with cancer types strongly associated with CPS diagnosed in Germany between 2007 and 2016. Data were obtained from various sources including two national pediatric pathology reference laboratories for brain and solid tumors, respectively, various childhood cancer trial offices as well as the German Childhood Cancer Registry. Among 21,127 children diagnosed with cancer between 2007 and 2016, 2554 (12.1%) had a cancer type strongly associated with a CPS. The most common diagnoses were myelodysplastic syndrome and juvenile myelomonocytic leukemia, retinoblastoma, malignant peripheral nerve sheath tumor, infantile myofibromatosis, medulloblastoma^SHH, rhabdoid tumor as well as atypical teratoid/rhabdoid tumor. Based on cancer type only, 12.1% of all children with cancer have an indication for a genetic evaluation. Pediatric oncology patients require access to genetic counselling and testing.

在患有癌症的儿童中，特定的临床特征，例如身体异常、年轻亲属中癌症的发生、特定的癌症组织学和独特的突变/甲基化特征可能表明存在潜在的癌症易感综合征 (CPS)。在所有患有癌症的儿童中，患有癌症类型提示 CPS 的儿童的比例是未知的。确定癌症儿童中提示潜在 CPS 的癌症类型儿童的比例。我们评估了 2007 年至 2016 年间在德国诊断出的患有与 CPS 密切相关的癌症类型的儿童数量。数据来自各种来源，包括分别针对脑和实体瘤的两个国家儿科病理学参考实验室、各种儿童癌症试验办公室以及德国儿童癌症登记处。在 2007 年至 2016 年间被诊断出患有癌症的 21,127 名儿童中，2554 名（12.1%）的癌症类型与 CPS 密切相关。最常见的诊断是骨髓增生异常综合征和幼年粒单核细胞白血病、视网膜母细胞瘤、恶性周围神经鞘瘤、婴儿肌纤维瘤病、髓母细胞瘤^SHH、横纹肌样瘤以及非典型畸胎样/横纹肌样瘤。仅根据癌症类型，12.1% 的所有癌症儿童都有进行基因评估的指征。儿科肿瘤患者需要获得遗传咨询和检测。