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

Ryota Shirai; Tomoo Osumi; Keita Terashima; Chikako Kiyotani; Meri Uchiyama; Shinichi Tsujimoto; Masanori Yoshida; Kaoru Yoshida; Toru Uchiyama; Daisuke Tomizawa; Yoko Shioda; Masahiro Sekiguchi; Kenichiro Watanabe; Dai Keino; Hitomi Ueno-Yokohata; Kentaro Ohki; Junko Takita; Shuichi Ito; Takao Deguchi; Nobutaka Kiyokawa; Hideki Ogiwara; Tomoro Hishiki; Seishi Ogawa; Hajime Okita; Kimikazu Matsumoto; Takako Yoshioka; Motohiro Kato

doi:10.1038/s41431-020-0614-z

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

Ryota Shirai, Tomoo Osumi, Keita Terashima, Chikako Kiyotani, Meri Uchiyama, Shinichi Tsujimoto, Masanori Yoshida, Kaoru Yoshida, Toru Uchiyama, Daisuke Tomizawa, Yoko Shioda, Masahiro Sekiguchi, Kenichiro Watanabe, Dai Keino, Hitomi Ueno-Yokohata, Kentaro Ohki, Junko Takita, Shuichi Ito, Takao Deguchi, Nobutaka KiyokawaHideki Ogiwara, Tomoro Hishiki, Seishi Ogawa, Hajime Okita, Kimikazu Matsumoto, Takako Yoshioka, Motohiro Kato

Division of Diagnostic Pathology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1124-1128
Number of pages	5
Journal	European Journal of Human Genetics
Volume	28
Issue number	8
DOIs	https://doi.org/10.1038/s41431-020-0614-z
Publication status	Published - 2020 Aug 1

ASJC Scopus subject areas

Genetics
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Shirai, R., Osumi, T., Terashima, K., Kiyotani, C., Uchiyama, M., Tsujimoto, S., Yoshida, M., Yoshida, K., Uchiyama, T., Tomizawa, D., Shioda, Y., Sekiguchi, M., Watanabe, K., Keino, D., Ueno-Yokohata, H., Ohki, K., Takita, J., Ito, S., Deguchi, T., ... Kato, M. (2020). High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors. European Journal of Human Genetics, 28(8), 1124-1128. https://doi.org/10.1038/s41431-020-0614-z

Shirai, R, Osumi, T, Terashima, K, Kiyotani, C, Uchiyama, M, Tsujimoto, S, Yoshida, M, Yoshida, K, Uchiyama, T, Tomizawa, D, Shioda, Y, Sekiguchi, M, Watanabe, K, Keino, D, Ueno-Yokohata, H, Ohki, K, Takita, J, Ito, S, Deguchi, T, Kiyokawa, N, Ogiwara, H, Hishiki, T, Ogawa, S, Okita, H, Matsumoto, K, Yoshioka, T & Kato, M 2020, 'High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors', European Journal of Human Genetics, vol. 28, no. 8, pp. 1124-1128. https://doi.org/10.1038/s41431-020-0614-z

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title = "High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors",

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.",

author = "Ryota Shirai and Tomoo Osumi and Keita Terashima and Chikako Kiyotani and Meri Uchiyama and Shinichi Tsujimoto and Masanori Yoshida and Kaoru Yoshida and Toru Uchiyama and Daisuke Tomizawa and Yoko Shioda and Masahiro Sekiguchi and Kenichiro Watanabe and Dai Keino and Hitomi Ueno-Yokohata and Kentaro Ohki and Junko Takita and Shuichi Ito and Takao Deguchi and Nobutaka Kiyokawa and Hideki Ogiwara and Tomoro Hishiki and Seishi Ogawa and Hajime Okita and Kimikazu Matsumoto and Takako Yoshioka and Motohiro Kato",

note = "Funding Information: Funding This work was supported in part by a grant from the National Center for Child Health and Development (grant number 2019B-8) and by the Japan Agency for Medical Research and development (AMED) (grant number JP19ck0106467 and JP19cm0106509). Publisher Copyright: {\textcopyright} 2020, European Society of Human Genetics.",

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doi = "10.1038/s41431-020-0614-z",

language = "English",

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T1 - High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors

AU - Shirai, Ryota

AU - Osumi, Tomoo

AU - Terashima, Keita

AU - Kiyotani, Chikako

AU - Uchiyama, Meri

AU - Tsujimoto, Shinichi

AU - Yoshida, Masanori

AU - Yoshida, Kaoru

AU - Uchiyama, Toru

AU - Tomizawa, Daisuke

AU - Shioda, Yoko

AU - Sekiguchi, Masahiro

AU - Watanabe, Kenichiro

AU - Keino, Dai

AU - Ueno-Yokohata, Hitomi

AU - Ohki, Kentaro

AU - Takita, Junko

AU - Ito, Shuichi

AU - Deguchi, Takao

AU - Kiyokawa, Nobutaka

AU - Ogiwara, Hideki

AU - Hishiki, Tomoro

AU - Ogawa, Seishi

AU - Okita, Hajime

AU - Matsumoto, Kimikazu

AU - Yoshioka, Takako

AU - Kato, Motohiro

N1 - Funding Information: Funding This work was supported in part by a grant from the National Center for Child Health and Development (grant number 2019B-8) and by the Japan Agency for Medical Research and development (AMED) (grant number JP19ck0106467 and JP19cm0106509). Publisher Copyright: © 2020, European Society of Human Genetics.

PY - 2020/8/1

Y1 - 2020/8/1

N2 - 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.

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

Abstract

ASJC Scopus subject areas

UN SDGs

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