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A novel SREBF1::NACC1 gene fusion in an unclassifiable intracranial tumour.
Takeuchi, Yasuhide; Mineharu, Yohei; Arakawa, Yoshiki; Hara, Masayuki; Oichi, Yuki; Kamata, Takahiko; Fukuyama, Keita; Yamamoto, Yoshihiro; Yamanaka, Toshiyuki; Kakiuchi, Nobuyuki; Hiratomo, Emi; Hirata, Masahiro; Yokoo, Hideaki; Hirose, Takanori; Minamiguchi, Sachiko; Ogawa, Seishi; Muto, Manabu; Miyamoto, Susumu; Haga, Hironori.
Afiliação
  • Takeuchi Y; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Mineharu Y; Clinical Bioresource Center, Kyoto University Hospital, Kyoto, Japan.
  • Arakawa Y; Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Hara M; Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Oichi Y; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Kamata T; Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Fukuyama K; Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Yamamoto Y; Department of Clinical Oncology, Kyoto University Hospital, Kyoto, Japan.
  • Yamanaka T; Department of Clinical Oncology, Kyoto University Hospital, Kyoto, Japan.
  • Kakiuchi N; Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Hiratomo E; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
  • Hirata M; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
  • Yokoo H; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Hirose T; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Minamiguchi S; Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
  • Ogawa S; Department of Diagnostic Pathology, Hyogo Cancer Center, Akashi, Japan.
  • Muto M; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Miyamoto S; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
  • Haga H; Clinical Bioresource Center, Kyoto University Hospital, Kyoto, Japan.
Neuropathol Appl Neurobiol ; 48(7): e12843, 2022 12.
Article em En | MEDLINE | ID: mdl-35900258
A 39-year-old man had an intracranial tumour without infiltration into the surrounding cerebral tissue. The tumour recurred seven times in 11 years but maintained a well-demarcated character. Histopathological examination of the 4th surgical specimens showed nests of tumour cells surrounding small blood vessels. The tumour cells harboured amphophilic cytoplasm and small round nuclei with fine chromatin, and perinuclear haloes and clear borders were frequently observed, which was unclassifiable histology. By the Deutsches Krebsforschungszentrum methylation classifier, the tumour was not classified into any of the methylation classes. mRNA sequencing identified a novel SREBF1::NACC1 gene fusion. This intracranial tumour could be a novel tumour entity with NACC1 rearrangement showing characteristic histological and diagnostic imaging findings.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Fusão Gênica Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Fusão Gênica Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão