A patient with heterochronous double primary tumor of basal ganglia germ cell tumors followed by diffuse hemispheric glioma: a case report.

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY Child's Nervous System Pub Date : 2024-10-28 DOI:10.1007/s00381-024-06644-w

Ziting He, Xian Jiang, Zhouyu Wang, Ningning Luo, Ye Song

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Abstract

Background: 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.

Case report: 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.

Conclusions: This is the first report of a patient with heterochronous double primary tumor of BGGCT followed by DHGs.

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一名患有基底节生殖细胞瘤和弥漫性半球胶质瘤的异时性双原发肿瘤患者的病例报告。

背景：基底节生殖细胞瘤（BGGCT基底节生殖细胞瘤（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（DHGs）是一种累及大脑半球的侵袭性胶质瘤。DHGs 的诊断取决于组织病理学和分子病理学的结合：我们报告了一名初步诊断为BGGCT的患者，该患者对随后的化放疗敏感。不幸的是，六年后在磁共振成像（MRI）中发现了第二个高级别胶质瘤。随后，肿瘤在手术后被完全切除，随后的组织病理学和新一代测序（NGS）检测证实了 DHGs 的诊断。有趣的是，我们在 FANCA 中发现了一个可能致病的种系变异。术后，患者接受了 Stupp 方案治疗。患者在接受 Stupp 方案治疗 13 个月后复发，术后情况良好：这是首例报告 BGGCT 和 DHGs 异源双原发肿瘤的患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Child's Nervous System 医学-临床神经学

CiteScore

3.00

自引率

7.10%

发文量

322

审稿时长

3 months

期刊介绍： The journal has been expanded to encompass all aspects of pediatric neurosciences concerning the developmental and acquired abnormalities of the nervous system and its coverings, functional disorders, epilepsy, spasticity, basic and clinical neuro-oncology, rehabilitation and trauma. Global pediatric neurosurgery is an additional field of interest that will be considered for publication in the journal.