Abstract：
SMARCA4 alterations can be encountered in a variety of human neoplasms, and metastases to the central nervous system (CNS) are rare, offering a challenge to neuropathologists despite not representing a distinct diagnostic entity. To better understand the clinical and histologic presentation of such neoplasms, we report an observational case series and systematic review of 178 unique articles that yielded 15 published cases and 7 cases from institutional files. In the systematic review, the median age was 58 years, the male-to-female ratio was 2:1, and the most common diagnosis was lung adenocarcinoma; all CNS metastases were discovered within 1 year of presentation. In the case series, the median age was 58 years, the male-to-female ratio was 6:1, and all known metastases originated from the lung. Most patients had a smoking history and died of disease. GATA-3 positivity was seen in most case series examples. Concurrent TP53 mutations (83.3%) and a high tumor mutation rate (60%) were common. To our knowledge, this is the only case series and systematic review in the English literature aimed at assessing SMARCA4-altered metastases in the CNS and vertebral column. We highlight the challenges of neuropathologic evaluation of such tumors and provide observational evidence of early metastases, histologic appearances, and immunohistochemical findings, including previously unreported GATA-3 positivity.
摘要：
SMARCA4改变可以在多种人类肿瘤中遇到，中枢神经系统（CNS）的转移很少见，尽管没有代表独特的诊断实体，但仍向神经病理学家提出了挑战。为了更好地了解此类肿瘤的临床和组织学表现，我们报告了观察性病例系列,并对178篇独特文章进行了系统综述,这些文章产生了15例已发表的病例和7例来自机构档案的病例.在系统审查中，中位年龄为58岁,男女比例为2∶1,最常见的诊断为肺腺癌;所有CNS转移均在1年内发现.在案例系列中，中位年龄为58岁,男女比例为6∶1,所有已知的转移均起源于肺.大多数患者有吸烟史，死于疾病。GATA-3阳性见于大多数病例系列实例。常见的是同时发生TP53突变（83.3%）和高肿瘤突变率（60%）。据我们所知,这是英文文献中唯一的旨在评估中枢神经系统和脊柱SMARCA4改变转移的病例系列和系统综述.我们强调了对此类肿瘤进行神经病理学评估的挑战，并提供了早期转移的观察证据。组织学表现，和免疫组织化学结果，包括以前未报告的GATA-3阳性。
