转移性不可切除的恶性黑色素瘤(MM)由于其固有的生物侵袭潜力和对放化疗的敏感性低,预后差,死亡率高;平均生存期仅为6-8个月,5年生存率低于10%。脑和肝转移患者的进展比其他远处或内脏转移患者的进展更差。随着免疫疗法的出现,尤其是免疫检查点抑制剂,某些患者可实现IV期疾病的长期缓解.尽管最近取得了进展,并非所有患者都能受益或负担得起免疫治疗。这里,我们报道了一例44岁的男性,其最初诊断为MM并伴有肝脏和多发性脑转移.观察到高表达的F-box/WD重复蛋白7(FBXW7)失活突变,姑息性放疗后,患者接受依维莫司和替莫唑胺(TMZ)联合治疗。患者病情稳定约17个月,最终显示总生存期(OS)约19个月。这个案子很新颖,很有指导性,这凸显了依维莫司和TMZ的组合可能是有效的,具有可控的毒性,对于具有FBXW7突变的晚期MM患者。为类似患者的治疗提供参考。
Metastatic unresectable malignant melanoma (MM) owing to its intrinsic biological invasion potential and low sensitivity to radiochemotherapy has a poor prognosis and a high rate of mortality; the mean survival period is only 6-8 months, and the 5-year survival rate is less than 10%. The progression of patients with brain and liver metastases is worse than those with other distant or visceral metastases. With the advent of immunotherapy, especially immune-checkpoint inhibitors, long-term remission of stage IV disease may be achieved in some patients. Despite recent advances, not all patients benefit or can afford immunotherapy. Here, we report the
case of a 44-year-old man whose initial diagnosis was MM with liver and multiple brain metastases. A high expression of F-box/WD repeat-containing protein 7 (FBXW7) inactivating mutation was observed, and the patient was treated with a combination of everolimus and temozolomide (TMZ) following palliative radiotherapy. The patient was stable for approximately 17 months, and eventually showed an overall survival (OS) of about 19 months. This
case is novel and instructional, which highlights that the combination of everolimus and TMZ might be effective, with manageable toxicity, for advanced MM patients with FBXW7 mutation. And it may provide a reference for the treatment of analogous patients.