Your browser doesn't support javascript.
loading
Malignant brain tumor in an infant showing histopathological features of yolk sac tumor but genetic and epigenetic features of AT/RT.
Nakano, Yoshiko; Satomi, Kaishi; Okada, Keiko; Gotoh, Masahiro; Ushiama, Mineko; Sakamoto, Hiromi; Yoshida, Teruhiko; Kunihiro, Noritsugu; Hira, Kouta; Fukushima, Hiroko; Inoue, Takeshi; Hirato, Junko; Ichimura, Koichi; Hara, Junichi.
Affiliation
  • Nakano Y; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
  • Satomi K; Department of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan.
  • Okada K; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
  • Gotoh M; Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.
  • Ushiama M; Department of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan.
  • Sakamoto H; Department of Clinical Genomics, Fundamental Innovative Oncology Core, National Cancer Center Research Institute, Tokyo, Japan.
  • Yoshida T; Department of Clinical Genomics, Fundamental Innovative Oncology Core, National Cancer Center Research Institute, Tokyo, Japan.
  • Kunihiro N; Department of Clinical Genomics, Fundamental Innovative Oncology Core, National Cancer Center Research Institute, Tokyo, Japan.
  • Hira K; Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
  • Fukushima H; Department of Pediatric Neurosurgery, Osaka City General Hospital, Osaka, Japan.
  • Inoue T; Department of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan.
  • Hirato J; Department of Pathology, Osaka City General Hospital, Osaka, Japan.
  • Ichimura K; Department of Pathology, Osaka City General Hospital, Osaka, Japan.
  • Hara J; Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Pediatr Blood Cancer ; 68(9): e29192, 2021 09.
Article in En | MEDLINE | ID: mdl-34185381
ABSTRACT
SMARCA4 pathogenic variants are rarely detected in pediatric brain tumors other than atypical teratoid rhabdoid tumors (AT/RTs) without INI1 deficiency or in some cases of medulloblastoma. Here, we report an atypical intracranial immature teratoma that recurred as a yolk sac tumor with metastatic spinal and lung lesions. Sequencing of the tumor revealed two SMARCA4 variants, including a splice-site variant and a non-synonymous variant of uncertain significance. Additionally, the methylation signature of the tumor was close to that of AT/RTs. Our case might be a yet-unrecognized subtype of pediatric tumors in which inactivation of SMARCA4 contributes to the pathogenesis.
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Teratoma / Brain Neoplasms / Rhabdoid Tumor / Endodermal Sinus Tumor Limits: Humans / Infant Language: En Journal: Pediatr Blood Cancer Year: 2021 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Teratoma / Brain Neoplasms / Rhabdoid Tumor / Endodermal Sinus Tumor Limits: Humans / Infant Language: En Journal: Pediatr Blood Cancer Year: 2021 Document type: Article