• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Nature reviews. Urology >Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC.
【24h】

Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC.

机译：探索用于治疗FH缺乏型2型乳头状RCC的糖酵解抑制剂。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Background. A 24-year-old woman presented with a 45 cm complex cystic renal mass, which was resected. The tumor was a type-2 papillary renal cell carcinoma (pRCC-2), and several nodules remained. The patient was treated with mammalian target of rapamycin complex 1 (mTORC1) inhibitors, but after 5 months the tumor had progressed. Genetic testing of the patient revealed a novel heterozygous germline mutation in the gene encoding fumarate hydratase (FH), an enzyme of the tricarboxylic acid (TCA) cycle. As the tumor exhibited loss of heterozygosity for FH and markedly reduced FH activity, and in the absence of other established therapies, treatment with the glycolytic inhibitor 2DG (2-deoxy-D-glucose) was explored.Investigations. CT, histology, immunohistochemistry, genetic studies, 2-deoxy-2-((18)F)fluoro-D-glucose ((18)FDG)-PET/CT, FH enzymatic assays, reconstitution experiments and in vitro studies of the effects of 2DG on FH-deficient tumor cells.Diagnosis. pRCC-2 arising in a patient with a novel germline FH mutation and de novo hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome progressing after mTORC1 inhibitor therapy.Management. Surgical resection of the renal mass, treatment with mTORC1 inhibitors followed by 2DG. Unfortunately, 2DG was not effective, and the patient died several weeks later.
机译：背景。一名24岁妇女表现出45厘米的复杂性胆囊肾肿块，将其切除。肿瘤为2型乳头状肾细胞癌（pRCC-2），并残留多个结节。该患者接受了雷帕霉素复合物1（mTORC1）抑制剂的哺乳动物靶向治疗，但5个月后肿瘤进展。对该患者进行的基因测试显示，在编码富马酸水合酶（FH）（一种三羧酸（TCA）循环的酶）的基因中出现了一个新的杂合种系突变。由于肿瘤表现出FH杂合性丧失并显着降低FH活性，并且在没有其他既定疗法的情况下，探索了用糖酵解抑制剂2DG（2-deoxy-D-glucose）进行治疗的方法。 CT，组织学，免疫组化，遗传研究，2-脱氧-2-（（18）F）氟-D-葡萄糖（（18）FDG）-PET / CT，FH酶法测定，重组实验和影响的体外研究2DG对FH缺陷型肿瘤细胞的诊断患有新种系FH突变，从头遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征的患者中出现的pRCC-2在mTORC1抑制剂治疗后进展。手术切除肾肿块，先用mTORC1抑制剂治疗，再用2DG治疗。不幸的是，2DG无效，患者数周后死亡。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号