Teke Martha E, Choi Agnes, Sarvestani Amber Leila, Blakely Andrew M, Carr Shamus R
Surgical Oncology Program, NCI, NIH, Bethesda, MD, USA.
Thoracic Surgical Oncology Branch, NCI, NIH, Bethesda, MD, USA.
J Gastrointest Oncol. 2023 Feb 28;14(1):429-434. doi: 10.21037/jgo-22-714. Epub 2023 Feb 20.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and have diverse tumor biology. Succinate dehydrogenase ()-deficient GIST, comprise less than 10% of all GIST, with mutational loss of the catalytic subunit being the most common subtype. Contrary to typical GISTs harboring inactivating mutations in -deficient GIST has varying biology and behavior, occurring at a younger age, often metastatic on presentation and frequently refractory to conventional tyrosine kinase inhibitors (TKI). Liver and peritoneum are their most common sites of metastases, and extra-abdominal spread to the diaphragm or mediastinum has not been previously described.
Herein, we present a case of a 44-year-old female patient with a history of -deficient GISTs with multiple previous metastasectomies who presented with recurrence to the paraesophageal region and diaphragm which was identified upon routine positron emission tomography (PET) surveillance. Patient subsequently underwent a robotic assisted metastasectomy using a thoracic approach. Follow up was obtained 2 months following procedure and there was no evidence of recurrence.
-deficient GISTs have unique tumor biology and management of metastatic lesions remains an area of debate and discovery. Overall, this report highlights the need for comprehensive knowledge of the disease, a skilled surgical team, and multi-disciplinary involvement in order to optimize care and ensure favorable outcomes in this patient population.
胃肠道间质瘤（GIST）是胃肠道最常见的间充质肿瘤，具有多样的肿瘤生物学特性。琥珀酸脱氢酶（SDH）缺陷型GIST占所有GIST的比例不到10%，催化亚基的突变缺失是最常见的亚型。与典型的GIST不同，典型GIST存在失活突变，而SDH缺陷型GIST具有不同的生物学特性和行为，发病年龄较轻，就诊时往往已发生转移，且通常对传统酪氨酸激酶抑制剂（TKI）耐药。肝脏和腹膜是其最常见的转移部位，此前尚未有过向膈肌或纵隔的腹外转移报道。
在此，我们报告一例44岁女性患者，有SDH缺陷型GIST病史，此前曾多次进行转移灶切除术，此次因食管旁区域和膈肌复发就诊，通过常规正电子发射断层扫描（PET）监测得以确诊。患者随后接受了胸腔入路的机器人辅助转移灶切除术。术后2个月进行随访，未发现复发迹象。
SDH缺陷型GIST具有独特的肿瘤生物学特性，转移性病变的管理仍是一个存在争议和有待探索的领域。总体而言，本报告强调了全面了解该疾病、具备专业手术团队以及多学科参与的必要性，以便优化治疗并确保该患者群体获得良好预后。
