Hashizume Ryotaro, Matsuda Shinsuke, Nagai Moritaka, Hirata Kazuki, Imai Hiroshi, Kushima Ryoji
Department of Pathology and Matrix Biology, Mie University Graduate School of Medicine, Tsu, Mie 514-8507, Japan; Department of Genomic Medicine, Mie University Hospital, Tsu, Mie 514-8507, Japan; Department of Surgery, Nagai Hospital, Tsu, Mie 514-8508, Japan.
Department of Surgery, Nagai Hospital, Tsu, Mie 514-8508, Japan.
Int J Surg Case Rep. 2022 May;94:107032. doi: 10.1016/j.ijscr.2022.107032. Epub 2022 Apr 6.
Chordomas are rare malignant bone neoplasms that are presumed to arise from chordal remnants in the fetal stage and typically occur along the axial skeleton. The extra-skeletal chordomas reported to date include soft tissue of the extremities and nasopharynx. Chordoma arising from the gastrointestinal wall has not been previously described.
We report on a 42-year-old man with primary chordoma presenting as a gastroduodenal submucosal tumor centered on the pyloric ring. The patient was consistently asymptomatic, and the tumor was an incidental finding. However, during a follow-up at approximately 1.6 years, an increase in tumor size was identified on computed tomography (CT), and surgical resection was performed without a definite pathologic diagnosis. The patient was successfully treated with distal gastrectomy, and the histological diagnosis was a conventional chordoma. The diagnosis was confirmed via immunohistochemical staining for brachyury, pan-cytokeratin, S-100, and SOX9. Postoperative CT and magnetic resonance imaging revealed no recurrence or metastasis during the 1.5-year follow-up period.
Primary chordomas of the digestive tract are rare. Embryologic development of the notochord does not explain the existence of remnants in the gastrointestinal wall. Moreover, notochordal remnants, as precursors of chordoma, were not identified in the current case. The gastroduodenal chordoma may not have originated from embryonic notochordal remnants but through aberrant brachyury activation without a notochordal precursor.
We report the first case of primary gastrointestinal chordoma in humans. The tumor was completely removed surgically, without postoperative recurrence.
脊索瘤是一种罕见的恶性骨肿瘤，被认为起源于胎儿期的脊索残余组织，通常发生于中轴骨骼。迄今为止报道的骨骼外脊索瘤包括四肢软组织和鼻咽部的病例。此前尚未有胃肠道壁发生脊索瘤的相关描述。
我们报告一例42岁男性原发性脊索瘤，表现为以幽门环为中心的胃十二指肠黏膜下肿瘤。患者一直无症状，该肿瘤为偶然发现。然而，在大约1.6年的随访期间，计算机断层扫描（CT）显示肿瘤大小增加，在未明确病理诊断的情况下进行了手术切除。患者接受远端胃切除术后成功治愈，组织学诊断为传统型脊索瘤。通过对brachyury、全细胞角蛋白、S-100和SOX-9进行免疫组化染色确诊。术后CT和磁共振成像显示在1.5年的随访期内无复发或转移。
消化道原发性脊索瘤罕见。脊索的胚胎发育无法解释胃肠道壁中残余组织的存在。此外，在本病例中未发现作为脊索瘤前体的脊索残余组织。胃十二指肠脊索瘤可能并非起源于胚胎脊索残余组织而是通过无脊索前体的异常brachyury激活产生。
我们报告了人类首例原发性胃肠道脊索瘤病例。该肿瘤通过手术完全切除，术后无复发。
