伴有神经细胞性菊形团的胶质神经元肿瘤伴FGFR1基因内部串联重复——1例罕见病例报告
A glioneuronal tumor with neurocytic rosettes harboring FGFR1 internal tandem duplication - A report of a unique case.
作者信息
Soukup Jiri, Hajkova Nikola, Hajkova Veronika, Svajdler Marian, Netuka David, Majovsky Martin
机构信息
Department of Pathology, Military University Hospital Prague, Prague, Czech Republic.
The Fingerland Department of Pathology, Charles University, Faculty of Medicine in Hradec Králové and University Hospital Hradec Králové, Hradec Kralove, Czech Republic.
出版信息
Neuropathology. 2025 Jun;45(3):234-240. doi: 10.1111/neup.13018. Epub 2024 Nov 25.
Rosette-forming glioneuronal tumors (RGNTs) with FGFR1 tyrosine kinase domain internal tandem duplication (FGFR1 ITD) is exceedingly rare, with only a few cases reported in the literature. Hereby we present a case of a tumor with RGNT morphology occurring in area of septum pellucidum of 43-year-old male. The tumor showed FGFR1 ITD, no PIK3CA, PIK3R1 or NF1 alterations and inconclusive methylation profile with match for class of "low-grade glial/glioneuronal/neuroepithelial tumors". No areas characteristic of dysembryoplastic neuroepithelial tumor were identified. A brief review of literature on discrepancies between morphological diagnosis of RGNT and molecular profile of the entity is provided.
具有成神经管细胞瘤样菊形团的神经胶质神经元肿瘤（RGNTs）伴FGFR1酪氨酸激酶结构域内部串联重复（FGFR1 ITD）极为罕见，文献中仅报道了少数病例。在此，我们报告一例发生于43岁男性透明隔区、具有RGNT形态的肿瘤。该肿瘤显示FGFR1 ITD，无PIK3CA、PIK3R1或NF1改变，甲基化谱不明确，符合“低级别神经胶质/神经胶质神经元/神经上皮肿瘤”类别。未发现胚胎发育不良性神经上皮肿瘤的特征性区域。本文对RGNT形态学诊断与该实体分子特征之间差异的文献进行了简要综述。
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