Nagabushan Sumanth, Lau Loretta M S, Barahona Paulette, Wong Marie, Sherstyuk Alexandra, Marshall Glenn M, Tyrrell Vanessa, Wegner Eva A, Ekert Paul G, Cowley Mark J, Mayoh Chelsea, Trahair Toby N, Crowe Philip, Anazodo Antoinette, Ziegler David S
Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.
School of Women's and Children's Health, UNSW Sydney, Sydney, NSW, Australia.
NPJ Precis Oncol. 2021 Feb 12;5(1):9. doi: 10.1038/s41698-021-00145-8.
The prognosis of recurrent malignant peripheral nerve sheath tumors (MPNST) is dismal, with surgical resection being the only definitive salvage therapy. Treatment with chemoradiation approaches has not significantly improved patient outcomes. Similarly, trials of therapies targeting MPNST genomic drivers have thus far been unsuccessful. Improved understanding of the molecular pathogenesis of MPNST indicates frequent activation of the mitogen-activated protein kinase (MAPK) cell signaling pathway. MEK inhibitors have shown activity in preclinical studies; however, their clinical efficacy has not been reported to date. We describe here a case of sustained complete response to MEK inhibition in an adolescent patient with a recurrent metastatic MPNST with multiple alterations in the MAPK pathway, guided by a precision oncology approach.
复发性恶性外周神经鞘瘤（MPNST）的预后很差，手术切除是唯一确定的挽救性治疗方法。放化疗方法治疗并未显著改善患者预后。同样，针对MPNST基因组驱动因素的治疗试验迄今为止也未成功。对MPNST分子发病机制的进一步了解表明，丝裂原活化蛋白激酶（MAPK）细胞信号通路频繁激活。MEK抑制剂在临床前研究中已显示出活性；然而，迄今为止尚未报道其临床疗效。我们在此描述了一例青少年复发性转移性MPNST患者，在精准肿瘤学方法的指导下，对MEK抑制产生持续完全缓解，该患者的MAPK通路存在多种改变。
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