Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.

IF 1.8 4区 医学 Q3 ONCOLOGY
José Luis Rodríguez-Olivares, Héctor Raúl González-Sánchez, Evelyn Lilian Beas-Lozano, Jazmin Arteaga-Vázquez, Elaine T Lam Md, María T Bourlon
{"title":"Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.","authors":"José Luis Rodríguez-Olivares, Héctor Raúl González-Sánchez, Evelyn Lilian Beas-Lozano, Jazmin Arteaga-Vázquez, Elaine T Lam Md, María T Bourlon","doi":"10.46883/2024.25921027","DOIUrl":null,"url":null,"abstract":"<p><p>The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department with sudden dyspnea and chest pain. Upon admission, her oxygen saturation was 88%. A chest CT scan revealed pulmonary cystic lesions consistent with lymphangioleiomyomatosis and a right spontaneous pneumothorax, which resolved with the placement of a chest tube. Physical examination revealed a hypopigmented macule on the skin of the lumbar region, facial angiofibromas, and periungual fibromas. An abdominal MRI documented multiple bilateral renal tumors that were hypointense on T2-weighted imaging and showed a black boundary artifact, suggestive of fat-poor angiomyolipomas (AMLs). Subsequent percutaneous biopsy of the largest renal tumor confirmed the diagnosis of angiomyolipoma (positive for HMB-45 on immunohistochemistry). The brain MRI revealed subependymal nodules. The pulmonary function tests showed a mild obstructive pattern. Germline genetic testing confirmed the suspected diagnosis, and the patient started oral systemic treatment with everolimus (Afinitor) 10 mg once daily, along with dexamethasone rinses for prophylaxis.</p>","PeriodicalId":51147,"journal":{"name":"Oncology-New York","volume":null,"pages":null},"PeriodicalIF":1.8000,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oncology-New York","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.46883/2024.25921027","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department with sudden dyspnea and chest pain. Upon admission, her oxygen saturation was 88%. A chest CT scan revealed pulmonary cystic lesions consistent with lymphangioleiomyomatosis and a right spontaneous pneumothorax, which resolved with the placement of a chest tube. Physical examination revealed a hypopigmented macule on the skin of the lumbar region, facial angiofibromas, and periungual fibromas. An abdominal MRI documented multiple bilateral renal tumors that were hypointense on T2-weighted imaging and showed a black boundary artifact, suggestive of fat-poor angiomyolipomas (AMLs). Subsequent percutaneous biopsy of the largest renal tumor confirmed the diagnosis of angiomyolipoma (positive for HMB-45 on immunohistochemistry). The brain MRI revealed subependymal nodules. The pulmonary function tests showed a mild obstructive pattern. Germline genetic testing confirmed the suspected diagnosis, and the patient started oral systemic treatment with everolimus (Afinitor) 10 mg once daily, along with dexamethasone rinses for prophylaxis.

遗传性肾肿瘤综合征与 mTOR 抑制剂的使用。
病例 一位 47 岁的女性患者在儿童时期曾患耐药性癫痫,因突发呼吸困难和胸痛而到急诊科就诊。入院时,她的血氧饱和度为 88%。胸部 CT 扫描发现肺部囊性病变,与淋巴管瘤病和右侧自发性气胸一致。体格检查发现腰部皮肤有色素减退斑、面部血管纤维瘤和掌周纤维瘤。腹部核磁共振成像显示多发双侧肾肿瘤,T2加权成像呈低密度,并显示黑色边界伪影,提示为贫脂性血管脂肪瘤(AML)。随后对最大的肾肿瘤进行了经皮活检,确诊为血管肌脂肪瘤(免疫组化显示 HMB-45 阳性)。脑部核磁共振成像检查发现了蝶窦下结节。肺功能检查显示有轻度阻塞症状。患者开始口服依维莫司(Afinitor)10 毫克,每天一次,同时使用地塞米松冲洗预防。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Oncology-New York
Oncology-New York 肿瘤学-肿瘤学
CiteScore
1.60
自引率
0.00%
发文量
69
审稿时长
6-12 weeks
期刊介绍: Although laboratory and clinical cancer research need to be closely linked, observations at the basic level often remain removed from medical applications. This journal works to accelerate the translation of experimental results into the clinic, and back again into the laboratory for further investigation. The fundamental purpose of this effort is to advance clinically-relevant knowledge of cancer, and improve the outcome of prevention, diagnosis and treatment of malignant disease. The journal publishes significant clinical studies from cancer programs around the world, along with important translational laboratory findings, mini-reviews (invited and submitted) and in-depth discussions of evolving and controversial topics in the oncology arena. A unique feature of the journal is a new section which focuses on rapid peer-review and subsequent publication of short reports of phase 1 and phase 2 clinical cancer trials, with a goal of insuring that high-quality clinical cancer research quickly enters the public domain, regardless of the trial’s ultimate conclusions regarding efficacy or toxicity.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信