PDF(Pubmed)
Abstract：
Gliosarcoma is a rare subtype of glioblastoma (GBM) with a shorter medical history and a worse prognosis compared to other Grade 4 gliomas. Most gliosarcomas are sporadic, but it is undeniable that a small percentage are linked to germline mutations and several inherited cancer susceptibility syndromes, including Lynch Syndrome (LS). The authors present a case of a primary mismatch repair-deficient gliosarcoma in LS. A 54-year-old Chinese male patient was admitted to the hospital with a history of facial asymmetry for over 1 month and right temporo-occipital pain for 5 days. Head MRI revealed a complex mass lesion in the right frontoparietal region, consisting of cystic and solid components. The patient\'s history of colon malignancy and family history of rectal carcinoma were noteworthy. Postoperative pathology indicated the presence of gliosarcoma with high-frequency microsatellite instability (MSI-H) and mismatch repair deficiency (MMRD). Further genetic testing results confirmed a germline heterozygous mutation in MSH2, which is considered the gold standard for diagnosing LS. This case report enriches the existing literature on germline MSH2 mutations and gliosarcomas. It highlights the importance for neurosurgeons to consider possible hereditary disorders when treating patients with a history of concurrent tumors outside the nervous system. Genetic testing is crucial for further identification of such disorders.
摘要：
胶质肉瘤是胶质母细胞瘤（GBM）的一种罕见亚型，与其他4级胶质瘤相比，病史较短，预后较差。大多数胶质肉瘤是零星的，但不可否认的是，一小部分与种系突变和几种遗传性癌症易感性综合征有关，包括林奇综合症（LS）。作者介绍了一例LS中原发性错配修复缺陷型胶质肉瘤。一名54岁的中国男性患者入院，面部不对称病史超过1个月，右颞枕骨疼痛持续5天。头颅MRI显示右额顶区有一个复杂的肿块，由囊性和实性成分组成。患者的结肠恶性肿瘤病史和直肠癌家族史值得关注。术后病理提示胶质肉瘤伴高频微卫星不稳定性（MSI-H）和错配修复缺陷（MMRD）。进一步的遗传测试结果证实了MSH2中的种系杂合突变，这被认为是诊断LS的金标准。该病例报告丰富了现有关于种系MSH2突变和胶质肉瘤的文献。它强调了神经外科医生在治疗具有神经系统外并发肿瘤病史的患者时考虑可能的遗传性疾病的重要性。基因检测对于进一步识别此类疾病至关重要。
