High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors

SMARCB1 基因异常（包括嵌合体）在恶性横纹肌样瘤中高发

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作者：Shirai,Ryota,Osumi,Tomoo,Terashima,Keita,Kiyotani,Chikako,Uchiyama,Meri,Tsujimoto,Shinichi,Yoshida,Masanori,Yoshida,Kaoru,Uchiyama,Toru,Tomizawa,Daisuke,Shioda,Yoko,Sekiguchi,Masahiro,Watanabe,Kenichiro,Keino,Dai,Ueno-Yokohata,Hitomi,Ohki,Kentaro,Takita,Junko,Ito,Shuichi,Deguchi,Takao,Kiyokawa,Nobutaka,Ogiwara,Hideki,Hishiki,Tomoro,Ogawa,Seishi,Okita,Hajime,Matsumoto,Kimikazu,Yoshioka,Takako,Kato,Motohiro
期刊：European Journal of Human Genetics影响因子：4.600
时间：2020起止号：2020 Aug;28(8):1124-1128
doi：10.1038/s41431-020-0614-z靶点： ARC

Abstract

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.

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