Department of Neurosurgery, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Department of Anesthesiology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Childs Nerv Syst. 2024 Dec;40(12):4315-4321. doi: 10.1007/s00381-024-06644-w. Epub 2024 Oct 28.
Basal ganglia germ cell tumor (BGGCT) is a rare central nervous system (CNS) tumor. Diffuse hemispheric gliomas, H3 G34-mutant (DHGs) is an invasive glioma involving the cerebral hemispheres. The diagnosis of DHGs depends on the integration of histopathology and molecular pathology.
We reported a patient with an initial diagnosis of BGGCT that was sensitive to subsequent chemoradiotherapy. Unfortunately, a second high-grade glioma was found on magnetic resonance imaging (MRI) six years later. Subsequently, the tumor was completely removed after surgery and the following histopathology plus next generation sequencing (NGS) testing confirmed the diagnosis of DHGs. Interestingly, we found a germline likely pathogenic variant in FANCA. After surgery, the patient received Stupp regimen. The patient had a relapse 13 months after the Stupp regimen and was doing well after surgery.
This is the first report of a patient with heterochronous double primary tumor of BGGCT followed by DHGs.
基底神经节生殖细胞瘤（BGGCT）是一种罕见的中枢神经系统（CNS）肿瘤。弥漫性大脑半球胶质瘤，H3 G34 突变型（DHGs）是一种累及大脑半球的侵袭性神经胶质瘤。DHGs 的诊断依赖于组织病理学和分子病理学的综合分析。
我们报告了一例最初诊断为 BGGCT 的患者，该患者对后续的放化疗敏感。不幸的是，六年后磁共振成像（MRI）发现了第二个高级别神经胶质瘤。随后，肿瘤在手术后完全切除，以下组织病理学加下一代测序（NGS）检测证实了 DHGs 的诊断。有趣的是，我们在 FANCA 中发现了一个种系可能致病性变异。手术后，患者接受了 Stupp 方案治疗。Stupp 方案治疗后 13 个月患者复发，手术后恢复良好。
这是首例报道的 BGGCT 异时性双原发肿瘤后继发 DHGs 的病例。
