Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Pediatrics, Yokohama City University, Yokohama, Japan.
Eur J Hum Genet. 2020 Aug;28(8):1124-1128. doi: 10.1038/s41431-020-0614-z. Epub 2020 Mar 26.
Intensive analysis of the SMARCB1 gene in malignant rhabdoid tumors (MRT) revealed eight of 16 patients with constitutional genetic variants. Three patients had mosaicism of deletion/variant of the SMARCB1 gene, which conventional methods might overlook. The prevalence of cancer predisposition in MRT may thus be higher than previously reported.
对恶性横纹肌样瘤（MRT）中的 SMARCB1 基因进行深入分析，发现 16 名患者中有 8 名存在先天性遗传变异。3 名患者存在 SMARCB1 基因缺失/变异的镶嵌现象，这可能被常规方法所忽略。因此，MRT 中的癌症易感性发生率可能高于之前的报道。
