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GLI1 扩增/融合的间叶性肿瘤:病例报告及文献复习。

GLI1 amplified/fused mesenchymal tumor: A case report and review of the literature.

机构信息

Department of Pathology, The Second People's Hospital of Hefei, Hefei Hospital Affiliated to Anhui Medical University, Hefei 230011, Anhui, China.

Department of Pathology, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, China.

出版信息

Oral Oncol. 2022 Jun;129:105897. doi: 10.1016/j.oraloncology.2022.105897. Epub 2022 May 2.

Abstract

Glioma-associated oncogene homologue 1 (GLI1) is an important transcription factor downstream of Hedgehog (HH) signaling pathway, and can be used as a marker of HH signaling pathway activation. GLI1 gene translocations have been reported in several tumor types, including those associated with t(7;12) translocated dermatocytoma, plexus fibromyxoma, and gastroblastoma and other types of malignant soft tissue tumors, whereas GLI1 amplification is actually very rare in tumors. In this case report, we describe for the first time a tumor in the right mandibular gingiva, which is consistent with GLI1 amplified/fused mesenchymal tumor. The tumor cells are elliptic, polygonal and spindle tumor cells growing into nests and segments, lobulated and occasionally mitotic. The identification of these pathological features can help guide pathologists to make appropriate diagnosis and, if necessary, follow-up molecular tests. Our case has been treated with surgical resection. To date, no recurrence or metastasis has occurred and the prognosis is good.

摘要

胶质母细胞瘤相关癌基因同源物 1(GLI1)是 Hedgehog(HH)信号通路下游的一个重要转录因子,可作为 HH 信号通路激活的标志物。GLI1 基因易位已在多种肿瘤类型中报道,包括与 t(7;12)易位性皮肤细胞瘤、丛状纤维黏液瘤和胃母细胞瘤和其他类型的恶性软组织肿瘤相关的易位,而 GLI1 扩增在肿瘤中实际上非常罕见。在本病例报告中,我们首次描述了发生在右侧下颌牙龈的肿瘤,该肿瘤与 GLI1 扩增/融合间叶性肿瘤一致。肿瘤细胞呈椭圆形、多边形和梭形,生长成巢状和片段状,分叶状,偶尔有丝分裂。这些病理特征的识别有助于指导病理学家做出适当的诊断,如果需要,还可以进行后续的分子检测。我们的病例已行手术切除。迄今为止,无复发或转移,预后良好。

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