与冯雷克林霍增氏病相关的胃肠道间质瘤：两例报告及文献复习
GIST associated with von recklinghausen disease: Report of two cases and review of literature.
作者信息
Vargas Ávila Arcenio Luis, Jiménez Leyva Amador, Vargas Flores Julián, Reyes Garcia Victor Gibran, de Alba Cruz Israel, Narváez González Hugo Fernando, Galicia Gómez Teresa de Jesús
机构信息
Department of Surgery, Hospital Regional "General Ignacio Zaragoza" ISSSTE, Ciudad de México, México.
出版信息
Ann Med Surg (Lond). 2021 Jan 22;62:365-368. doi: 10.1016/j.amsu.2021.01.033. eCollection 2021 Feb.
INTRODUCTION AND IMPORTANCE
Neurofibromatosis type 1 (NF1), or Von Recklinghausen's disease, is an autosomal dominant condition that affects the central nervous system. Gastrointestinal stromal tumor (GIST) refers to non-epithelial tumors of the gastrointestinal tract lacking smooth muscle structural features and schwann cell immunohistochemical characteristics. The risk of patients with NF1 to develop a GIST is 7%.
CASE PRESENTATION
GIST is a soft tissue sarcoma that probably arises from the interstitial Cajal cells of the intestine. GIST associated with NF1 syndrome appears to have a distinct phenotype, occurring in younger patients compared to sporadic GIST.
CLINICAL DISCUSSION
The clinical presentation can be highly variable, the association of gastrointestinal tumors associated with Von Recklinghausen's disease is up to 7%, postoperative treatment with imatinib is reserved for patients with a high risk of recurrence.
CONCLUSION
The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule.
引言与重要性
1型神经纤维瘤病（NF1），即冯雷克林霍增氏病，是一种影响中枢神经系统的常染色体显性疾病。胃肠道间质瘤（GIST）指的是缺乏平滑肌结构特征和施万细胞免疫组化特征的胃肠道非上皮性肿瘤。NF1患者发生GIST的风险为7%。
病例介绍
GIST是一种软组织肉瘤，可能起源于肠道的间质 Cajal 细胞。与NF1综合征相关的GIST似乎具有独特的表型，与散发性GIST相比，发病年龄更小。
临床讨论
临床表现差异很大，冯雷克林霍增氏病相关胃肠道肿瘤的发生率高达7%，伊马替尼术后治疗适用于复发风险高的患者。
结论
原发性GIST的治疗是进行完整的手术切除，切缘镜下阴性且假包膜完整。
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