PDF(Pubmed)
Abstract：
UNASSIGNED: Esophageal carcinoma with switch/sucrose nonfermenting (SWI/SNF)-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4) mutation is a rare variant of malignant esophageal epithelial neoplasm, which is characterized by the loss of SMARCA4/BRG1 protein on immunohistochemistry or alterations in the SMARCA4 gene on sequencing. Only a few case series and case reports of esophageal carcinoma with SMARCA4 mutations have been published in the English literature; the rarity of the disease poses significant diagnostic challenges for surgical pathologists and could potentially lead to delayed or suboptimal patient care. Herein, we reviewed the available literature on esophageal carcinoma with SMARCA4 mutations to discuss its epidemiology, clinical presentation, pathological and molecular features, diagnostic challenges, treatment, and prognosis.
UNASSIGNED: The PubMed, Scopus, Ovid, and Google Scholar databases were extensively reviewed. The references included in the articles were cross-examined to identify any missing articles. We searched for all published literature on esophageal carcinoma with SMARCA4 mutations from inception of the databases to date.
UNASSIGNED: Esophageal carcinoma with SMARCA4 mutations is most common in middle-aged and older men. Barrett esophagus and gastroesophageal reflux disease (GERD) are the most associated risk factors. Dysphagia was the most common initial clinical presentation. Esophagogastroduodenoscopy (EGD) is the preferred diagnostic modality. Microscopically, the tumor cells exhibited epithelioid features mixed with variable components of rhabdoid and glandular differentiation. The tumor cells showed variable immunoreactivity for cytokeratin and sometimes weakly expressed neuroendocrine or B-lymphocyte markers (Pax5), which are potential diagnostic pitfalls. Melanoma marker tests showed negative results. The SMARCB1/INI1 protein remains intact, and a definitive diagnosis necessitates the presence of either SMARCA4/BRG1 protein loss or SMARCA4 gene mutations. Esophageal carcinoma with SMARCA4 mutations shows overly aggressive behavior and presents with advanced stages of disease; most patients succumb to the disease within 1 year of initial diagnosis.
UNASSIGNED: Esophageal carcinoma with SMARCA4 mutation is an overly aggressive disease, and further research on the affected molecular pathway may help improve its prognosis.
UNASSIGNED: The PubMed, Scopus, Ovid, and Google Scholar databases were extensively reviewed. The references included in the articles were cross-examined to identify any missing articles. We searched for all published literature on esophageal carcinoma with SMARCA4 mutations from inception of the databases to date.
UNASSIGNED: Esophageal carcinoma with SMARCA4 mutations is most common in middle-aged and older men. Barrett esophagus and gastroesophageal reflux disease (GERD) are the most associated risk factors. Dysphagia was the most common initial clinical presentation. Esophagogastroduodenoscopy (EGD) is the preferred diagnostic modality. Microscopically, the tumor cells exhibited epithelioid features mixed with variable components of rhabdoid and glandular differentiation. The tumor cells showed variable immunoreactivity for cytokeratin and sometimes weakly expressed neuroendocrine or B-lymphocyte markers (Pax5), which are potential diagnostic pitfalls. Melanoma marker tests showed negative results. The SMARCB1/INI1 protein remains intact, and a definitive diagnosis necessitates the presence of either SMARCA4/BRG1 protein loss or SMARCA4 gene mutations. Esophageal carcinoma with SMARCA4 mutations shows overly aggressive behavior and presents with advanced stages of disease; most patients succumb to the disease within 1 year of initial diagnosis.
UNASSIGNED: Esophageal carcinoma with SMARCA4 mutation is an overly aggressive disease, and further research on the affected molecular pathway may help improve its prognosis.
摘要：
■与转换/蔗糖非发酵（SWI/SNF）相关的食管癌，矩阵关联，肌动蛋白依赖性染色质调节因子，亚科A,成员4（SMARCA4）突变是食管上皮性恶性肿瘤的一种罕见变异，其特征在于免疫组织化学上SMARCA4/BRG1蛋白的丢失或测序上SMARCA4基因的改变。只有少数病例系列和病例报告SMARCA4突变的食管癌已在英文文献中发表；该疾病的罕见性对外科病理学家提出了重大的诊断挑战，并可能导致延迟或次优的患者护理。在这里，我们回顾了有关SMARCA4突变的食管癌的现有文献，以讨论其流行病学，临床表现,病理和分子特征，诊断挑战，治疗,和预后。
■PubMed，Scopus,奥维德,和谷歌学者数据库被广泛审查。对文章中包含的参考文献进行了交叉检查，以识别任何缺失的文章。从数据库开始至今，我们搜索了所有已发表的关于SMARCA4突变食管癌的文献。
■SMARCA4突变的食管癌最常见于中老年男性。Barrett食管和胃食管反流病（GERD）是最相关的危险因素。吞咽困难是最常见的初始临床表现。食管胃十二指肠镜检查（EGD）是首选的诊断方式。微观上,肿瘤细胞表现出上皮样特征，并伴有横纹肌样和腺体分化的可变成分。肿瘤细胞表现出可变的细胞角蛋白免疫反应性，有时弱表达的神经内分泌或B淋巴细胞标记（Pax5），这是潜在的诊断陷阱。黑色素瘤标记试验显示阴性结果。SMARCB1/INI1蛋白保持完整，明确的诊断需要SMARCA4/BRG1蛋白缺失或SMARCA4基因突变的存在。具有SMARCA4突变的食管癌表现出过度的攻击行为，并表现为疾病的晚期；大多数患者在最初诊断后1年内死于该疾病。
■具有SMARCA4突变的食管癌是一种过度侵袭性的疾病，进一步研究受影响的分子途径可能有助于改善其预后。
■PubMed，Scopus,奥维德,和谷歌学者数据库被广泛审查。对文章中包含的参考文献进行了交叉检查，以识别任何缺失的文章。从数据库开始至今，我们搜索了所有已发表的关于SMARCA4突变食管癌的文献。
■SMARCA4突变的食管癌最常见于中老年男性。Barrett食管和胃食管反流病（GERD）是最相关的危险因素。吞咽困难是最常见的初始临床表现。食管胃十二指肠镜检查（EGD）是首选的诊断方式。微观上,肿瘤细胞表现出上皮样特征，并伴有横纹肌样和腺体分化的可变成分。肿瘤细胞表现出可变的细胞角蛋白免疫反应性，有时弱表达的神经内分泌或B淋巴细胞标记（Pax5），这是潜在的诊断陷阱。黑色素瘤标记试验显示阴性结果。SMARCB1/INI1蛋白保持完整，明确的诊断需要SMARCA4/BRG1蛋白缺失或SMARCA4基因突变的存在。具有SMARCA4突变的食管癌表现出过度的攻击行为，并表现为疾病的晚期；大多数患者在最初诊断后1年内死于该疾病。
■具有SMARCA4突变的食管癌是一种过度侵袭性的疾病，进一步研究受影响的分子途径可能有助于改善其预后。
