Girma Tadesse, Nureta Tilahun Habte, Abebe Dabessa Mossisa
Department of Surgery, Faculty of Medicine, Institute of health, Jimma University, Ethiopia.
Department of Surgery, Faculty of Medicine, Institute of health, Jimma University, Ethiopia.
Int J Surg Case Rep. 2023 Apr;105:107992. doi: 10.1016/j.ijscr.2023.107992. Epub 2023 Mar 20.
Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder caused by NF1 gene mutation, which is associated with several types of tumors. GIST is an intestinal stromal tumor arising from interstitial cells of Cajal in the intestine. GIST is one of the neoplasms seen in NF1 and usually affects elderly individuals with a median age around 60-65 years but rarely occur in children, adolescent and young adults.
An 18-year-old male patient presented to our hospital with abdominal swelling of one-year duration. He also has multiple skin nodules and café au lait spots all over his body. Objectively, the abdomen is grossly distended; with a palpable non-tender mobile mass above the umbilicus measuring 20 × 15 cm. CT imaging of the abdomen and histologic examination of the skin lesion was done. The diagnosis of GIST was made and surgical resection followed by adjuvant therapy with imatinib was given.
Patients who have a gene mutation in NF 1 have a high probability (7 %) of developing GIST and mostly occur in the small intestine, whereas our finding was solitary GIST localized to the stomach. NF 1-associated GISTs are very rare and account for <5 % of all GISTs. The standard therapy for GIST is surgical resection of the tumor. Targeted therapy with tyrosine kinase inhibitors is an effective adjuvant therapy in patients harboring KIT/PDGFRA mutation.
The incidence of GIST is higher in NF1 patients than in the general population. The definitive diagnosis of GISTs preoperatively is usually challenging and is usually confirmed by immunohistochemistry. NF1-associated GISTs are mainly treated with surgery and have limited response to tyrosine kinase inhibitors.
1型神经纤维瘤病（NF1）是一种由NF1基因突变引起的常染色体显性疾病，与多种类型的肿瘤相关。胃肠道间质瘤（GIST）是一种起源于肠道 Cajal 间质细胞的肠道间质肿瘤。GIST是NF1患者中可见的肿瘤之一，通常影响年龄中位数在60 - 65岁左右的老年人，但在儿童、青少年和年轻成年人中很少发生。
一名18岁男性患者因腹部肿胀一年前来我院就诊。他全身还有多个皮肤结节和咖啡牛奶斑。客观检查发现，腹部明显膨隆；在脐上可触及一个20×15厘米的可移动、无压痛肿块。对腹部进行了CT成像检查，并对皮肤病变进行了组织学检查。诊断为GIST，并进行了手术切除，随后给予伊马替尼辅助治疗。
NF1基因发生突变的患者发生GIST的概率较高（7%），且大多发生在小肠，而我们的病例是一个孤立的位于胃的GIST。NF1相关的GIST非常罕见，占所有GIST的比例不到5%。GIST的标准治疗方法是手术切除肿瘤。对于携带KIT/PDGFRA突变的患者，酪氨酸激酶抑制剂靶向治疗是一种有效的辅助治疗方法。
NF1患者中GIST的发病率高于普通人群。术前对GIST进行明确诊断通常具有挑战性，通常通过免疫组织化学来确诊。NF1相关的GIST主要通过手术治疗，对酪氨酸激酶抑制剂的反应有限。
