贝伐珠单抗，一种有效的 HIF2α 抑制剂，在 Pacak-Zhuang 综合征中的应用。
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
机构信息
From the Departments of Pediatric Oncology (J.K., K.V.H., J.A.P., C.M.C., A.I., C.B.W., K.A.J., S.G.D.) and Medical Oncology (W.G.K.), Dana-Farber Cancer Institute, Harvard Medical School, the Divisions of Hematology and Oncology (J.K., J.A.P., M.M.H., K.A.J., S.G.D.) and Endocrinology (A.J.W.) and the Departments of Surgery (B.R.W.), Pathology (S.O.V.), and Radiology (S.D.V.), Boston Children's Hospital, Harvard Medical School, and the Manton Center for Orphan Disease Research and the Division of Genetics and Genomics, Boston Children's Hospital (J.A.M., J.L.) - all in Boston; Howard Hughes Medical Institute, Chevy Chase, MD (W.G.K.); and Merck, Kenilworth, NJ (R.F.P., N.J.Z.).
出版信息
N Engl J Med. 2021 Nov 25;385(22):2059-2065. doi: 10.1056/NEJMoa2110051.
The integration of genomic testing into clinical care enables the use of individualized approaches to the management of rare diseases. We describe the use of belzutifan, a potent and selective small-molecule inhibitor of the protein hypoxia-inducible factor 2α (HIF2α), in a patient with polycythemia and multiple paragangliomas (the Pacak-Zhuang syndrome). The syndrome was caused in this patient by somatic mosaicism for an activating mutation in . Treatment with belzutifan led to a rapid and sustained tumor response along with resolution of hypertension, headaches, and long-standing polycythemia. This case shows the application of a targeted therapy for the treatment of a patient with a rare tumor-predisposition syndrome. (Funded by the Morin Family Fund for Pediatric Cancer and Alex's Lemonade Stand Foundation.).
基因组检测与临床护理的整合使我们能够采用个体化方法来管理罕见疾病。我们描述了贝鲁替尼（一种有效的、选择性的小分子缺氧诱导因子 2α（HIF2α）蛋白抑制剂）在一名患有红细胞增多症和多发性副神经节瘤（Pacak-Zhuang 综合征）患者中的应用。该综合征是由该患者体内体细胞镶嵌性的. 突变引起的。贝鲁替尼治疗导致肿瘤快速和持续缓解，同时高血压、头痛和长期红细胞增多症也得到解决。本病例展示了一种靶向治疗在治疗罕见肿瘤易感性综合征患者中的应用。（由 Morin 家族儿童癌症基金和 Alex's Lemonade Stand 基金会资助）。
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