PDF(Pubmed)
Abstract：
Multiple gastrointestinal stromal tumors (GISTs) combined with cutaneous multiple neurofibromas are clinically rare. This paper presents a case of multiple gastrointestinal stromal tumors in the jejunum of a 68-year-old mother, along with her daughter who also had coexisting cutaneous multiple neurofibromas. The mother had been experiencing repeated melena for over 2 years and had previously been diagnosed with multiple small intestinal masses at other hospitals. Additionally, her 42-year-old daughter was admitted to our department due to recurrent abdominal pain caused by cholecystolithiasis. The mother and daughter both exhibited multiple nodular masses of varying sizes on their skin, including the truncus, limbs, and face, which were diagnosed as neurofibromas. The mother underwent a partial excision of the jejunum and a lateral jejunojejunal anastomosis side-to-side, as well as excision of skin lesions in our department. The final diagnosis of wild-type GISTs associated with neurofibromatosis type 1 (NF1) was confirmed through postoperative pathology, immunohistochemistry, and genetic testing results. During preoperative gastrointestinal endoscopy and intraoperative laparoscopic exploration of the gastrointestinal tract, no obvious tumors were found in her daughter. A combination of patient observations and a review of relevant literature in the field suggests that when patients present with gastrointestinal symptoms and multiple irregular painless swellings in the skin, it is important to consider the possibility of an association with NF1 and GIST. Additionally, obtaining a detailed family history can save time and improve the diagnosis of patients with both NF1 and GIST. We recommend that even if there are no gastrointestinal manifestations of GISTs in the offspring of newly mutated NF1 patients, regular review of gastroenteroscopy, imaging examination, and long-term follow-up after middle age are still crucial for the early diagnosis and treatment of NF1-related GISTs.
摘要：
多发性胃肠道间质瘤（GIST）合并皮肤多发性神经纤维瘤在临床上很少见。本文介绍一例68岁母亲的空肠多发性胃肠道间质瘤，还有她的女儿，她的女儿也同时患有皮肤多发性神经纤维瘤。母亲已经经历了2年以上的反复黑便，并且先前在其他医院被诊断出患有多个小肠肿块。此外,她42岁的女儿因胆囊结石引起的复发性腹痛而入院治疗.母亲和女儿的皮肤上都表现出多个大小不同的结节肿块，包括truncus,四肢,和脸,被诊断为神经纤维瘤。母亲接受了空肠的部分切除和空肠空肠侧方吻合术，以及我们部门的皮肤病变切除。最终诊断为野生型GIST与1型神经纤维瘤病（NF1）相关，经术后病理证实。免疫组织化学，和基因检测结果。在术前胃肠内镜检查和术中腹腔镜胃肠道探查期间，她的女儿没有发现明显的肿瘤。结合患者的观察和对该领域相关文献的回顾表明，当患者出现胃肠道症状和皮肤多次不规则无痛肿胀时，重要的是要考虑与NF1和GIST关联的可能性。此外,获得详细的家族史可以节省时间并改善NF1和GIST患者的诊断。我们建议即使在新突变的NF1患者的后代中没有胃肠道表现的GISTS，定期复查胃肠镜检查，影像学检查,中年后的长期随访对于NF1相关GIST的早期诊断和治疗仍然至关重要。
