Shao Chengying, Chen Keyu, Duan Yanting, Xu Jiajie
Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, China.
Otolaryngology & Head and Neck Center, Cancer Center, Department of Head and Neck Surgery, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, China.
Front Oncol. 2025 Sep 2;15:1580121. doi: 10.3389/fonc.2025.1580121. eCollection 2025.
Esophageal granular cell tumor (GCT) is a rare benign neurogenic tumor, however, malignant transformation has been reported. And there is no consensus on the choice of esophageal reconstruction in these patients. Therefore, the study of markers of malignant potential in GCT is of great importance in guiding the choice of clinical treatment. Case presentation: Herein, we report the case of a patient with a large cervical esophageal GCT in which a myocutaneous free flap was used to repair a large defect after the resection of a localized esophageal tumor, providing strong reliability in terms of coverage capacity, tissue resistance, and distance management from the recipient vessel. The patient's recovery was satisfactory at 48 days postoperatively, without significant complications. To further understand the specific cellular status of esophageal granular cell tumors, we performed an in-depth analysis of the tumor and its paraneoplastic tissues in this patient using single-cell RNA sequencing (scRNA-seq), which showed that neural-like cell subpopulations were enriched in the tumor, and genes such as SOX10, S100B, NCAM1, SPP1, and STMN1 were significantly upregulated. A significant copy number variation increase was observed in the X chromosome region. Conclusions: To the best of our knowledge, the present study represents the first scRNA-seq analysis of GCT, providing valuable insights for future prediction of GCT malignancy. In addition, the present study successfully repaired a large cervical oesophageal defect using a skin flap, and these findings have great potential to guide the understanding and management of postoperative large defects in benign cervical esophageal masses, paving the way for further clinical surgical practice in this area.
食管颗粒细胞瘤（GCT）是一种罕见的良性神经源性肿瘤，然而，已有恶性转化的报道。并且对于这些患者食管重建方式的选择尚无共识。因此，研究GCT中恶性潜能标志物对于指导临床治疗选择具有重要意义。病例报告：在此，我们报告一例患有巨大颈段食管GCT的患者，在局部食管肿瘤切除后，使用游离肌皮瓣修复了巨大缺损，在覆盖能力、组织抵抗力以及与受区血管的距离管理方面提供了可靠保障。术后48天患者恢复情况良好，无明显并发症。为了进一步了解食管颗粒细胞瘤的具体细胞状态，我们使用单细胞RNA测序（scRNA-seq）对该患者的肿瘤及其瘤旁组织进行了深入分析，结果显示肿瘤中神经样细胞亚群富集，并且SOX10、S100B、NCAM1、SPP1和STMN1等基因显著上调。在X染色体区域观察到显著的拷贝数变异增加。结论：据我们所知，本研究是首次对GCT进行scRNA-seq分析，为未来预测GCT恶性程度提供了有价值的见解。此外，本研究成功地使用皮瓣修复了巨大的颈段食管缺损，这些发现对于指导理解和处理良性颈段食管肿物术后的巨大缺损具有巨大潜力，为该领域进一步的临床手术实践铺平了道路。
