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1
Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon.提醒临床医生:1 型神经纤维瘤病的腹部表现并不少见。
BMJ Case Rep. 2022 Aug 2;15(8):e250951. doi: 10.1136/bcr-2022-250951.
2
Multiple gastrointestinal stromal tumors in neurofibromatosis type 1 treated with laparoscopic surgery.1型神经纤维瘤病合并多发胃肠道间质瘤的腹腔镜手术治疗
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4
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Duodenal neuroendocrine tumor, adenocarcinoma and gastrointestinal stromal tumor in association with neurofibromatosis type 1: An unique occurrence.十二指肠神经内分泌肿瘤、腺癌及胃肠道间质瘤合并1型神经纤维瘤病:一种罕见情况。
Indian J Pathol Microbiol. 2018 Jul-Sep;61(3):401-403. doi: 10.4103/IJPM.IJPM_534_17.
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[A Case of Small Intestinal GIST Associated with Neurofibromatosis Type 1].[1例与1型神经纤维瘤病相关的小肠胃肠道间质瘤]
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本文引用的文献

1
Synchronous Gastrointestinal Stromal Tumor and Ampullary Neuroendocrine Tumor in Association with Neurofibromatosis Type 1: A Report of Three Cases.1型神经纤维瘤病合并同步性胃肠道间质瘤和壶腹神经内分泌肿瘤:三例报告
Korean J Gastroenterol. 2019 Oct 25;74(4):227-231. doi: 10.4166/kjg.2019.74.4.227.
2
Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review.1型神经纤维瘤病的胃肠道病变谱:影像综述
Insights Imaging. 2018 Oct;9(5):661-671. doi: 10.1007/s13244-018-0648-8. Epub 2018 Sep 4.
3
Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.1型神经纤维瘤病(雷克林霍增氏病)的胃肠道表现:结合发病机制的临床病理谱
Int J Clin Exp Pathol. 2012;5(9):852-62. Epub 2012 Oct 20.
4
Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications.神经纤维瘤病 1 型与肿瘤发生:分子机制与治疗意义。
Neurosurg Focus. 2010 Jan;28(1):E8. doi: 10.3171/2009.11.FOCUS09221.
5
Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.1 型神经纤维瘤病的胃肠道和腹膜后表现。
J Gastrointest Surg. 2010 Jan;14(1):186-94. doi: 10.1007/s11605-009-0940-5.
6
From the archives of the AFIP: abdominal neoplasms in patients with neurofibromatosis type 1: radiologic-pathologic correlation.来自武装部队病理研究所档案:1型神经纤维瘤病患者的腹部肿瘤:放射学与病理学对照
Radiographics. 2005 Mar-Apr;25(2):455-80. doi: 10.1148/rg.252045176.
7
Neurofibromatosis: implications for the general surgeon.神经纤维瘤病:对普通外科医生的启示
J Am Coll Surg. 2002 Oct;195(4):553-63. doi: 10.1016/s1072-7515(02)01252-8.

提醒临床医生:1 型神经纤维瘤病的腹部表现并不少见。

Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon.

机构信息

Azienda ULSS 6 Euganea, Cittadella, Italy

Gynecology, Azienda ULSS 6 Euganea, Cittadella, Italy.

出版信息

BMJ Case Rep. 2022 Aug 2;15(8):e250951. doi: 10.1136/bcr-2022-250951.

DOI:10.1136/bcr-2022-250951
PMID:35918081
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9351337/
Abstract

We describe the case of a woman in her 50s with abdominal pelvic masses suspected to be an ovarian lesion with metastases. At laparoscopy, it appeared as a possible abdominal location of neurofibromatosis type 1 (NF-1). A 50 cm of small bowel was resected to remove multiple nodular lesions. On histopathology, small bowel lesions (n=14) were all classified as GISTs. Clinicians should recognise and consider gastrointestinal manifestations of NF-1 in the diagnostic flow chart. Surgical treatment may resolve symptomatic cases and prevent local infiltration or malignant degeneration of abdominal neoplasms occurring in patients with NF-1.

摘要

我们描述了一位 50 多岁女性的病例,她的腹部盆腔有肿块,疑似为卵巢病变伴转移。腹腔镜检查时,病变疑似为神经纤维瘤病 1 型(NF-1)的一种可能腹部表现。切除了 50 厘米的小肠,以去除多个结节性病变。组织病理学检查显示,小肠病变(n=14)均被归类为 GISTs。临床医生应在诊断流程图中识别并考虑 NF-1 的胃肠道表现。手术治疗可能会解决有症状的病例,并防止 NF-1 患者发生的腹部肿瘤的局部浸润或恶性转化。