A novel <i>SREBF1::NACC1</i> gene fusion in an unclassifiable intracranial tumour
A novel <i>SREBF1::NACC1</i> gene fusion in an unclassifiable intracranial tumour
复制标题
无法分类的颅内肿瘤中的新型 <i>SREBF1::NACC1</i> 基因融合
DOI：
10.1111/nan.12843
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发表时间：
2022
影响因子：
5
通讯作者：
Mu
中科院分区：
文献类型：
--
作者：
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;Mu
患者男，39岁，为颅内肿瘤，周围脑组织未见浸润。肿瘤在11年内复发了7次，但保持了良好的分界特征。第4例手术标本组织病理学检查显示肿瘤细胞巢环绕小血管。瘤细胞胞浆两亲性，核小而圆，染色质细小，常可见核周晕环，边界清晰，组织学分类不清。通过Deutsches Krebsforschungszentum甲基化分类器，肿瘤没有被归类为任何甲基化类别。经基因测序证实为新的SREBF1：：NACC1基因融合。这个颅内肿瘤可能是一种新的肿瘤实体，NACC1重排显示出特征性的组织学和诊断性影像表现。
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 novelSREBF1::NACC1gene fusion. This intracranial tumour could be a novel tumour entity withNACC1rearrangement showing characteristic histological and diagnostic imaging findings.