Patient with Diffuse Midline Glioma, H3 K27-altered, Carrying an FGFR1 Mutation Who Experienced Thalamic Hemorrhage: A Case Report and Literature Review.

NMC case report journal Pub Date : 2023-11-11 eCollection Date: 2023-01-01 DOI:10.2176/jns-nmc.2023-0035
Kyosuke Matsunaga, Shinjiro Fukami, Nobuyuki Nakajima, Norio Ichimasu, Michihiro Kohno
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Abstract

Diffuse midline glioma (DMG), H3 K27M-altered, is a tumor with a poor prognosis mainly found in children. An adolescent patient presented with thalamic hemorrhage, which initially could not be diagnosed as DMG by pathological analysis. A neoplasm in the lateral ventricle close to the previous thalamic hemorrhagic lesion was detected 12 months after the hemorrhage. Thus, endoscopic resection was performed, and a diagnosis was made. Gene expression profiling demonstrated mutation in genes, such as H3F3A and FGFR1. FGFR1 mutation was associated with intratumoral hemorrhage in low-grade gliomas and contributed to longer survival than wild-type FGFR1 in DMG H3K27M. Our findings suggest that patients with DMG, H3 K27-altered, with FGFR1 mutation may be predisposed to intratumoral hemorrhaging and/or have a longer survival time than patients without FGFR1 mutation.

弥漫中线胶质瘤患者,H3 K27 变异,携带 FGFR1 基因突变,丘脑出血:病例报告与文献综述
弥漫中线胶质瘤(DMG),H3 K27M改变,是一种预后不良的肿瘤,主要见于儿童。一名青少年患者因丘脑出血而就诊,病理分析最初无法将其诊断为 DMG。出血 12 个月后,在靠近之前丘脑出血病灶的侧脑室发现了肿瘤。因此,对其进行了内窥镜切除术,并做出了诊断。基因表达谱分析显示,H3F3A 和 FGFR1 等基因发生了突变。FGFR1突变与低级别胶质瘤的瘤内出血有关,与野生型FGFR1相比,DMG H3K27M患者的生存期更长。我们的研究结果表明,与未发生FGFR1突变的患者相比,H3 K27改变的DMG患者如果发生FGFR1突变,可能容易发生瘤内出血和/或存活时间更长。
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