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一名患有孤立性纤维瘤且携带BRCA1突变的患者出现严重低血糖和杵状指:病例报告

Severe hypoglycemia and finger clubbing in a patient with a BRCA1 mutation in a solitary fibrous tumor: a case report.

作者信息

Guo Wei, Ji Ying, Guo Lei, Che Shunan, Huai Qilin, Yang Kun, Tan Fengwei, Xue Qi, Gao Shugeng, He Jie

机构信息

Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Ann Transl Med. 2021 Jul;9(13):1093. doi: 10.21037/atm-21-914.

Abstract

Solitary fibrous tumors (SFTs) are rare tumors that stem from mesenchymal cells of submesothelial tissues belonging to the pleura. They can occur in many places such as the spinal canal, intracranial, neck, kidney, liver, pelvis, limbs and other places, most commonly in the chest and abdomen. Pleural SFTs are one of the most common types, and are common in middle-aged people. Pleural SFTs can have an insidious expression, such that the illness can progress for years before diagnosis. SFTs can induce paraneoplastic syndromes, such as reactive hypoglycemia [Doege-Potter syndrome (DPS)] or hypertrophic osteoarthropathy [Pierre-Marie-Bamberger syndrome (PMBS)]. In this article, we report a case study of a 51-year-old man with pleural SFTs. Preoperative imaging examinations, including chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI), showed a huge mass in the right thoracic cavity, compressing surrounding tissues and organs and may invade other tissues. In addition, he suffers from severe hypoglycemia and finger clubbing, and has successfully undergone a complete resection, and now attends regular follow-up appointments. The paraneoplastic syndromes have resolved, and no recurrence has been found. Importantly, we used next-generation sequencing (NGS) to explore the molecular characteristics of the patient's pathological tissue at the DNA level and mRNA level, and found that breast cancer gene 1 (BRAC1) mutations may be an important pathogenic factor.

摘要

孤立性纤维瘤(SFTs)是一种罕见肿瘤,起源于胸膜间皮下组织的间充质细胞。它可发生于许多部位,如椎管、颅内、颈部、肾脏、肝脏、骨盆、四肢等,最常见于胸部和腹部。胸膜孤立性纤维瘤是最常见的类型之一,多见于中年人。胸膜孤立性纤维瘤的表现可能较为隐匿,疾病可能在诊断前进展数年。孤立性纤维瘤可诱发副肿瘤综合征,如反应性低血糖[多伊格-波特综合征(DPS)]或肥大性骨关节病[皮埃尔-玛丽-班贝格综合征(PMBS)]。在本文中,我们报告了一例51岁男性胸膜孤立性纤维瘤的病例研究。术前影像学检查,包括胸部X线、计算机断层扫描(CT)和磁共振成像(MRI),显示右胸腔有巨大肿块,压迫周围组织和器官,可能侵犯其他组织。此外,他患有严重低血糖和杵状指,已成功接受完整切除,目前定期接受随访。副肿瘤综合征已缓解,未发现复发。重要的是,我们使用下一代测序(NGS)在DNA水平和mRNA水平探索患者病理组织的分子特征,发现乳腺癌基因1(BRAC1)突变可能是一个重要的致病因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2492/8339833/f226e9d9de91/atm-09-13-1093-f1.jpg

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