关键词: SDHB mutation gastrointestinal stromal tumor (GIST) surgical management

来  源:   DOI:10.1002/jso.27727

Abstract:
Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)-loss posing significant diagnostic and therapeutic challenges. A 62-year-old man with weight loss and abdominal pain was diagnosed with a gastric GIST showing SDHB-loss. Initial treatment with Imatinib reduced the tumor size, but surgery revealed no residual tumor. Despite adjuvant Imatinib, recurrence occurred, necessitating further surgical intervention. While GISTs typically benefit from surgery and tyrosine kinase inhibitors (TKIs), those with SDHB-loss are resistant to TKIs, requiring a different management approach. This case emphasizes the importance of surgical intervention for SDHB-deficient GISTs and the need for ongoing research into effective treatments for this subtype.
摘要:
胃肠道间质瘤(GIST)是影响胃和小肠的肉瘤,以琥珀酸脱氢酶B(SDHB)丢失为特征的罕见亚型构成了重大的诊断和治疗挑战。一名62岁的体重减轻和腹痛的男子被诊断出患有胃GIST,显示SDHB丢失。伊马替尼的初始治疗减少了肿瘤的大小,但手术没有发现肿瘤残留.尽管伊马替尼佐剂,复发发生,需要进一步的手术干预。虽然GIST通常受益于手术和酪氨酸激酶抑制剂(TKIs),那些有SDHB损失的人对TKIs有抵抗力,需要不同的管理方法。该病例强调了对SDHB缺陷型GIST进行手术干预的重要性,以及对该亚型的有效治疗方法进行持续研究的必要性。
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