Nannini Margherita, Valerio Di Scioscio, Gruppioni Elisa, Altimari Annalisa, Chiusole Benedetta, Saponara Maristella, Pantaleo Maria Abbondanza, Brunello Antonella
Medical Oncology Unit, S.Orsola-Malpighi University Hospital, Via Massarenti 9, Bologna, 40138, Italy.
Department of Radiology, S.Orsola Malpighi Hospital, University of Bologna, Italy.
Therap Adv Gastroenterol. 2020 Jun 30;13:1756284820927305. doi: 10.1177/1756284820927305. eCollection 2020.
Up to 13% of and wild-type (WT) gastrointestinal stromal tumours (GIST) harbour a BRAF mutation, mostly involving the exon 15 hot spot. Even if mutation is recognized as druggable target in other solid tumours, currently advanced -mutant GIST share the same therapeutical algorithm of mutants. We report a complete radiological response in a 51-year-old woman with V600E BRAF-mutated metastatic GIST who was treated with regorafenib (REG) as first-line therapy. REG represents the standard third-line therapy for advanced GIST patients progressing on or failing to respond to imatinib and sunitinib. However, according to its wide spectrum of action, with signalling pathway blockade at different levels, metastatic WT, including mutants, may benefit from REG upfront in first line.
高达13%的野生型（WT）胃肠道间质瘤（GIST）存在BRAF突变，主要涉及外显子15热点区域。即使该突变在其他实体瘤中被认为是可靶向治疗的靶点，但目前晚期BRAF突变型GIST与KIT突变型GIST采用相同的治疗方案。我们报告了一名51岁患有V600E BRAF突变转移性GIST的女性患者，接受瑞戈非尼（REG）作为一线治疗后出现了完全的影像学缓解。REG是晚期GIST患者在伊马替尼和舒尼替尼治疗中进展或无反应时的标准三线治疗药物。然而，鉴于其广泛的作用谱，能在不同水平阻断KIT信号通路，转移性WT GIST，包括BRAF突变型，可能从一线使用REG中获益。
