Trubicka Joanna, Filipek Iwona, Iwanowski Piotr, Rydzanicz Małgorzata, Grajkowska Wiesława, Piekutowska-Abramczuk Dorota, Chrzanowska Krystyna, Karkucińska-Więckowska Agnieszka, Iwanicka-Pronicka Katarzyna, Pronicki Maciej, Łastowska Maria, Płoski Rafał, Dembowska-Bagińska Bożenna
Department of Pathology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Department of Oncology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Cancer Genet. 2017 Oct;216-217:79-85. doi: 10.1016/j.cancergen.2017.07.001. Epub 2017 Jul 20.
Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing. This is the first description of a de novo TP53 mutation mosaicism in a patient with CPC. Up to now four cases of de novo TP53 mutations in CPC patients have been described but none of them were mosaic. Since TP53 mutation mosaicism may have an impact on management of patients and predisposition to other cancers, a reliable method of identification is important. Our results highlight the utility of high-throughput technologies in detection of potentially important genetic markers.
脉络丛肿瘤（CPT）占所有小儿脑肿瘤的2%-5%，包括高级别脉络丛癌（CPC）。约40%的CPC患者携带种系TP53突变，这与生存率降低有关。然而，由于桑格测序识别嵌合体的能力欠佳，TP53携带者的数量可能被低估。我们描述了一名18个月大的男孩，患有超罕见的双侧播散性CPC，且无癌症家族史。二代测序（NGS）显示存在新生TP53突变的体细胞嵌合体，而桑格测序几乎无法检测到。这是首次在CPC患者中描述新生TP53突变嵌合体。到目前为止，已描述了4例CPC患者的新生TP53突变，但均非嵌合体。由于TP53突变嵌合体可能影响患者的治疗及对其他癌症的易感性，可靠的识别方法很重要。我们的结果凸显了高通量技术在检测潜在重要遗传标志物方面的效用。
