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食管胃肠道间质瘤中一种新型融合的鉴定:病例报告

Identification of a novel fusion in esophageal gastrointestinal stromal tumours: A case report.

作者信息

Luo Yuehao, Wu Ying, Chang Xiaona, Huang Bo, Luo Danju, Zhang Jiwei, Zhang Peng, Shi Heshui, Fan Jun, Nie Xiu

机构信息

Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Department of Gastrointestinal Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Front Oncol. 2022 Aug 1;12:884814. doi: 10.3389/fonc.2022.884814. eCollection 2022.

DOI:10.3389/fonc.2022.884814
PMID:35978808
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9377458/
Abstract

BACKGROUND

Gastrointestinal stromal tumours (GISTs) rarely arise in the esophagus. The clinical course and treatment options for esophageal GISTs are poorly understood because of their rarity. In general, the mutation spectrum of esophageal GISTs resembles that of gastric GISTs. GISTs lacking and gene mutations occasionally occur in adults; primary esophageal GISTs are commonly .

CASE PRESENTATION

Herein, we report the case of a 41-year-old female patient who presented with a 1-week history of anterior upper chest pain. Chest computed tomography revealed a 3.7 cm × 2.8 cm × 6.7 cm soft tissue mass in the right posterior mediastinum adjacent to the esophagus. The patient underwent thoracoscopic mediastinal tumor resection and was subsequently diagnosed with an esophageal GIST. Neither nor mutations were detected by Sanger sequencing; however, next-generation sequencing (NGS) identified an gene fusion in the tumor tissue. No relapse was observed in this patient during the 8-month treatment-free follow-up period.

CONCLUSION

To the best of our knowledge, this report is the first to describe an fusion in a patient with a quadruple esophageal GIST. When GISTS are suspected, intensive genetic analysis is recommended, and obtaining a better molecular characterization of these tumours might reveal novel therapeutic avenues.

摘要

背景

胃肠道间质瘤(GISTs)很少发生于食管。由于其罕见性,食管GISTs的临床病程和治疗选择了解甚少。一般而言,食管GISTs的突变谱与胃GISTs相似。缺乏 和 基因突变的GISTs偶尔在成人中出现;原发性食管GISTs通常为 。

病例报告

在此,我们报告一例41岁女性患者,其有1周前胸痛病史。胸部计算机断层扫描显示在食管旁右后纵隔有一个3.7 cm×2.8 cm×6.7 cm的软组织肿块。患者接受了胸腔镜纵隔肿瘤切除术,随后被诊断为食管GIST。通过Sanger测序未检测到 或 突变;然而,下一代测序(NGS)在肿瘤组织中鉴定出一个 基因融合。在8个月的无治疗随访期内,该患者未观察到复发。

结论

据我们所知,本报告首次描述了一例四倍体食管GIST患者中的 融合。当怀疑为GISTs时,建议进行深入的基因分析,对这些肿瘤获得更好的分子特征可能会揭示新的治疗途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/630d4d5b55fa/fonc-12-884814-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/27ad5dc578bf/fonc-12-884814-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/5a9772de7219/fonc-12-884814-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/630d4d5b55fa/fonc-12-884814-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/27ad5dc578bf/fonc-12-884814-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/5a9772de7219/fonc-12-884814-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34a7/9377458/630d4d5b55fa/fonc-12-884814-g003.jpg

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