Walsh Michael F, Kennedy Jennifer, Harlan Megan, Kentsis Alex, Shukla Neerav, Musinsky Jacob, Roberts Stephen, Kung Andrew L, Robson Mark, Kushner Brian H, Meyers Paul, Offit Kenneth
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). doi: 10.1101/mcs.a001925. Print 2017 Nov.
There has been no indication to test for in children (with the rare exception of Fanconi anemia) as screening begins in adult years and there is a potential to induce anxiety related to adult-onset cancers. However, in the setting of pediatric cancer, with increasing utility and frequency of companion tumor-normal sequencing without regard for phenotype and with included in tumor profiling panels, germline mutations in and other DNA damage repair genes have been found. When mutations in these genes are revealed, there are implications for immediate family members. Here we present two children in whom mutations identified through tumor sequencing prompted parental genetic testing and medical action. These cases illustrate the potential importance of including a matched normal DNA sample when performing tumor profiling of pediatric cancer patients to ensure optimal care.
在儿童中没有检测[基因名称未提及]的指征（范可尼贫血为例外），因为筛查从成年期开始，而且有可能引发与成年期癌症相关的焦虑。然而，在儿科癌症的情况下，随着不考虑表型的伴随肿瘤-正常测序的实用性和频率增加，以及肿瘤分析面板中包含[基因名称未提及]，已经发现了[基因名称未提及]和其他DNA损伤修复基因的种系突变。当这些基因的突变被发现时，对直系亲属有影响。在这里，我们展示了两名儿童，通过肿瘤测序鉴定出的[基因名称未提及]突变促使其父母进行基因检测并采取医疗行动。这些病例说明了在对儿科癌症患者进行肿瘤分析时纳入匹配的正常DNA样本以确保最佳治疗的潜在重要性。
