库欣病：迈向精准医学
Cushing's disease: towards precision medicine.
作者信息
Kaiser Ursula B
机构信息
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, 221 Longwood Avenue, Boston, MA 02115, USA.
出版信息
Cell Res. 2015 Jun;25(6):649-50. doi: 10.1038/cr.2015.53. Epub 2015 May 1.
Abstract
The pathogenesis of Cushing's disease is poorly understood; two recent reports identifying somatic mutations in USP8 in pituitary corticotroph tumors provide exciting advances in this field. These mutations alter EGFR trafficking and signaling, raising the prospect that EGFR inhibitors may move the treatment of this disease into the era of precision medicine.
摘要
库欣病的发病机制尚不清楚；最近有两份报告指出垂体促肾上腺皮质激素肿瘤中USP8存在体细胞突变，这为该领域带来了令人振奋的进展。这些突变改变了表皮生长因子受体（EGFR）的运输和信号传导，这使得EGFR抑制剂有望将这种疾病的治疗带入精准医学时代。
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本文引用的文献
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Recurrent gain-of-function USP8 mutations in Cushing's disease.库欣病中USP8复发性功能获得性突变
Cell Res. 2015 Mar;25(3):306-17. doi: 10.1038/cr.2015.20. Epub 2015 Feb 13.
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Mutations in the deubiquitinase gene USP8 cause Cushing's disease.USP8 基因突变导致库欣病。
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