Department of Surgery, 21599Geisinger Commonwealth School of Medicine, Danville, PA, USA.
2270UPMC Carlisle Bariatric Surgery Associates, Carlisle, PA, USA.
Am Surg. 2022 Jul;88(7):1541-1542. doi: 10.1177/00031348221083934. Epub 2022 Mar 13.
Multiple gastrointestinal stromal tumors (GISTs) of the small intestine is an uncommon finding but can be a marker for underlying neurofibromatosis type 1 (NF1). We present the case of the 38-year-old male without prior NF1 diagnosis who presented with a small bowel obstruction. His physical exam was notable for cutaneous nodules and café-au-lait spots. He progressed to peritonitis and underwent an exploratory laparotomy, which revealed a 6-cm hemorrhagic mass along the antimesenteric border of the jejunum, causing obstruction and perforation. Pathology was consistent with GISTs. NF1-associated GISTs differ from wild-type GISTs in that they are unlikely to have C-KIT and PDGFRA mutations and therefore do not respond to imatinib. Treatment is largely limited to surgical resection; however, there is evidence that MEK inhibitors may prove an additional treatment strategy.
小肠多发胃肠道间质瘤（GISTs）较为少见，但可作为潜在神经纤维瘤病 1 型（NF1）的标志物。我们报告了一例 38 岁男性病例，该患者无 NF1 既往诊断史，因小肠梗阻就诊。其体格检查可见皮肤结节和牛奶咖啡斑。患者进展为腹膜炎，并接受了剖腹探查术，术中发现沿空肠系膜边界存在 6cm 大小的出血性肿块，导致梗阻和穿孔。病理结果与 GISTs 一致。NF1 相关的 GISTs 与野生型 GISTs 不同，它们不太可能存在 C-KIT 和 PDGFRA 突变，因此对伊马替尼无反应。治疗主要限于手术切除；然而，有证据表明 MEK 抑制剂可能成为另一种治疗策略。
