1. A novel SREBF1::NACC1 gene fusion in an unclassifiable intracranial tumour
- Author
-
Yasuhide Takeuchi, Yohei Mineharu, Yoshiki Arakawa, Masayuki Hara, Yuki Oichi, Takahiko Kamata, Keita Fukuyama, Yoshihiro Yamamoto, Toshiyuki Yamanaka, Nobuyuki Kakiuchi, Emi Hiratomo, Masahiro Hirata, Hideaki Yokoo, Takanori Hirose, Sachiko Minamiguchi, Seishi Ogawa, Manabu Muto, Susumu Miyamoto, and Hironori Haga
- Subjects
Male ,Adult ,Repressor Proteins ,Histology ,Neurology ,Brain Neoplasms ,Physiology (medical) ,Humans ,Neurology (clinical) ,Gene Fusion ,Sterol Regulatory Element Binding Protein 1 ,Pathology and Forensic Medicine ,Neoplasm Proteins - Abstract
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.
- Published
- 2022