Nagano Hideki, Izumi Toshimasa, Kawahara Ei, Oyama Takeru, Goi Takanori
Department of Surgery, Fukui General Hospital, 58-16-1 Egami-cho, Fukui, 910-3113, Japan.
Department of Surgery, Japan Community Health Care Organization Fukui Katsuyama General Hospital, 2-6-21 Nagayama-cho, Katsuyama, Fukui, Japan.
Surg Case Rep. 2019 Jan 16;5(1):8. doi: 10.1186/s40792-019-0562-4.
Undifferentiated carcinoma of the esophagus with rhabdoid features is a very rare histologic finding that is occasionally associated with the loss of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1); however, until now, few survey reports of this type of tumor have been published. In this study, we describe a case of esophageal carcinoma with undifferentiated components and rhabdoid features that was exclusively positive for vimentin and SMARCB1 in a patient with prolonged survival.
A 67-year-old man complained of a stomachache and loss of appetite persisting for 1 month. He was then admitted to the hospital. Diagnostic imaging studies revealed a transdiaphragmatic circular ulcerative tumor of the esophagogastric region. Biopsy specimens showed undifferentiated round cell carcinoma. The patient underwent lower esophageal resection and total gastrectomy with lymph node dissection. Microscopic analysis revealed that most of the primary tumor consisted of large undifferentiated round cells and scattered rhabdoid cells. The tumor invaded the muscular layer in the esophagus and the subserosal layer in the stomach, and metastasis was noted in only one lymph node. Immunohistochemical analysis revealed that the round and rhabdoid cells found in the primary tumor were diffusely positive for SMARCB1 and vimentin. The tumor displayed focal positivity for the anti-pan-cytokeratin antibody AE1/AE3. In the positive lymph node, round undifferentiated carcinoma cells were admixed with squamous carcinoma cells that were positive for cytokeratin 5/6 and 34βE12. The MIB-1 index was 19.7% and 0.5% for the round cells from the primary tumor and epithelial cells from the metastatic lymph node lesion, respectively, and 70.1% for the round cells from the metastatic lymph node lesion. The patient has been alive for 10 years after surgery without tumor recurrence.
We reported a rare case of esophageal carcinoma with undifferentiated components, rhabdoid features, and a good prognosis.
具有横纹肌样特征的未分化食管癌是一种非常罕见的组织学表现，偶尔与SWI/SNF相关的基质相关肌动蛋白依赖性染色质调节因子B亚家族成员1（SMARCB1）缺失有关；然而，迄今为止，关于这类肿瘤的调查报道很少。在本研究中，我们描述了一例具有未分化成分和横纹肌样特征的食管癌病例，该病例仅波形蛋白和SMARCB1呈阳性，患者生存期延长。
一名67岁男性主诉胃痛和食欲不振持续1个月。随后他入院治疗。诊断性影像学检查显示食管胃区域有一个经膈肌的圆形溃疡性肿瘤。活检标本显示为未分化圆形细胞癌。患者接受了食管下段切除术和全胃切除术及淋巴结清扫术。显微镜分析显示，大部分原发性肿瘤由大的未分化圆形细胞和散在的横纹肌样细胞组成。肿瘤侵犯了食管的肌层和胃的浆膜下层，仅在一个淋巴结发现转移。免疫组化分析显示，原发性肿瘤中的圆形和横纹肌样细胞SMARCB1和波形蛋白弥漫性阳性。肿瘤对抗泛细胞角蛋白抗体AE1/AE3呈局灶性阳性。在阳性淋巴结中，圆形未分化癌细胞与细胞角蛋白5/6和34βE12阳性的鳞状癌细胞混合存在。原发性肿瘤的圆形细胞和转移性淋巴结病变的上皮细胞的MIB-1指数分别为19.7%和0.5%，转移性淋巴结病变的圆形细胞为70.1%。患者术后已存活10年，无肿瘤复发。
我们报道了一例罕见的具有未分化成分、横纹肌样特征且预后良好的食管癌病例。
