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High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
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.
Afiliação
  • Shirai R; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Osumi T; Department of Pediatrics, Yokohama City University, Yokohama, Japan.
  • Terashima K; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kiyotani C; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Uchiyama M; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Tsujimoto S; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Yoshida M; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Yoshida K; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Uchiyama T; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Tomizawa D; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Shioda Y; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Sekiguchi M; Department of Pediatrics, Yokohama City University, Yokohama, Japan.
  • Watanabe K; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Keino D; Department of Human Genetics, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ueno-Yokohata H; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Ohki K; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Takita J; Department of Pediatrics, University of Tokyo, Tokyo, Japan.
  • Ito S; Department of Hematology and Oncology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Deguchi T; Department of Pediatrics, St. Marianna University School of Medicine Hospital, Kawasaki, Japan.
  • Kiyokawa N; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ogiwara H; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hishiki T; Department of Pediatrics, University of Tokyo, Tokyo, Japan.
  • Ogawa S; Department of Pediatrics, Yokohama City University, Yokohama, Japan.
  • Okita H; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Matsumoto K; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Yoshioka T; Division of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan.
  • Kato M; Division of Surgery Oncology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Eur J Hum Genet ; 28(8): 1124-1128, 2020 08.
Article em En | MEDLINE | ID: mdl-32218533
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Tumor Rabdoide / Proteína SMARCB1 / Neoplasias Renais / Mosaicismo Tipo de estudo: Prevalence_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Tumor Rabdoide / Proteína SMARCB1 / Neoplasias Renais / Mosaicismo Tipo de estudo: Prevalence_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2020 Tipo de documento: Article