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

Eur J Hum Genet. 2020 Aug;28(8):1124-1128. doi: 10.1038/s41431-020-0614-z. Epub 2020 Mar 26.

Authors

Ryota Shirai^{1

2}, Tomoo Osumi^{1

3}, Keita Terashima³, Chikako Kiyotani³, Meri Uchiyama^{1

3}, Shinichi Tsujimoto^{1

3}, Masanori Yoshida^{1

2}, Kaoru Yoshida¹, Toru Uchiyama⁴, Daisuke Tomizawa³, Yoko Shioda³, Masahiro Sekiguchi⁵, Kenichiro Watanabe⁶, Dai Keino⁷, Hitomi Ueno-Yokohata¹, Kentaro Ohki¹, Junko Takita⁵, Shuichi Ito², Takao Deguchi³, Nobutaka Kiyokawa¹, Hideki Ogiwara⁸, Tomoro Hishiki⁹, Seishi Ogawa¹⁰, Hajime Okita^{11

12}, Kimikazu Matsumoto³, Takako Yoshioka¹¹, Motohiro Kato^{13

14}

Affiliations

¹ Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
² Department of Pediatrics, Yokohama City University, Yokohama, Japan.
³ Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
⁴ Department of Human Genetics, National Research Institute for Child Health and Development, Tokyo, Japan.
⁵ Department of Pediatrics, University of Tokyo, Tokyo, Japan.
⁶ Department of Hematology and Oncology, Shizuoka Children's Hospital, Shizuoka, Japan.
⁷ Department of Pediatrics, St. Marianna University School of Medicine Hospital, Kawasaki, Japan.
⁸ Division of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan.
⁹ Division of Surgery Oncology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
¹⁰ Department of Pathology and Tumor Biology, Graduate School of Medicine Kyoto University, Kyoto, Japan.
¹¹ Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.
¹² Department of Pathology, Keio University School of Medicine, Tokyo, Japan.
¹³ Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan. katom-tky@umin.ac.jp.
¹⁴ Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan. katom-tky@umin.ac.jp.

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.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Brain Neoplasms / genetics*
Brain Neoplasms / pathology
Child
Child, Preschool
Female
Gene Deletion
Gene Frequency
Germ-Line Mutation
Humans
Infant
Kidney Neoplasms / genetics*
Kidney Neoplasms / pathology
Male
Mosaicism*
Rhabdoid Tumor / genetics*
Rhabdoid Tumor / pathology
SMARCB1 Protein / genetics*

Substances

SMARCB1 Protein
SMARCB1 protein, human

Supplementary concepts

Rhabdoid Tumor Predisposition Syndrome 1