Management challenges and therapeutic strategies for metastatic melanoma – a case report

Andrea M. Aglio, Salvatore Cracchiolo, Giuseppe Impellizzeri, Michał Górecki
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Abstract

Introduction and aim. This case report focuses on a 26-year-old female with metastatic melanoma. It highlights the diagnostic process, initial immunotherapy, disease progression, and successful response to second-line therapy. Emphasizing the importance of early detection, personalized treatment, and adaptive strategies, it provides valuable insights into managing this aggressive form of skin cancer. Description of the case. A 26-year-old Caucasian female presented with a suspicious pigmented lesion on her thigh in 2013. The lesion was confirmed as superficial skin melanoma. No lymph node biopsy was performed. In 2021, she had abdominal pain and imaging revealed melanoma metastasis in the peritoneum, lungs and brain. Genetic testing showed BRAF V600E mutation and PD-L1 expression in tumor cells. She received immunotherapy and radiation for a central nervous system metastases but developed a brain hematoma. Follow-up imaging showed disease progression. She started second-line therapy with iBRAF/iMEK, and her condition rapidly improved with regression of metastatic lesions. Follow-up imaging confirmed significant positive changes and almost complete regression of neoplastic lesions. She continues to receive the targeted therapy and shows a positive response. Conclusion. Early diagnosis improves outcomes in metastatic melanoma. Peritoneal metastases should be considered in patients with abdominal symptoms. The combination of gamma knife radiosurgery with immunotherapy or targeted therapy shows promise for managing brain metastases, but careful patient selection and monitoring are vital due to potential risks. Treatment responses in advanced melanoma vary, with this case highlighting a favorable response to BRAF/MEK inhibitor therapy in a patient with a BRAF gene mutation. Further research and clinical trials are needed to refine treatment approaches and improve outcomes in metastatic melanoma.
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转移性黑色素瘤的管理挑战和治疗策略- 1例报告
介绍和目的。本病例报告集中于一位26岁的女性转移性黑色素瘤。它强调了诊断过程、初始免疫治疗、疾病进展和对二线治疗的成功反应。它强调了早期发现、个性化治疗和适应性策略的重要性,为管理这种侵袭性皮肤癌提供了有价值的见解。案件描述。2013年,一名26岁的白人女性大腿出现可疑色素病变。病变被确认为浅表皮肤黑色素瘤。未行淋巴结活检。2021年,她出现腹痛,影像学显示黑色素瘤在腹膜、肺部和脑部转移。基因检测显示肿瘤细胞中存在BRAF V600E突变和PD-L1表达。由于中枢神经系统转移,她接受了免疫治疗和放射治疗,但后来出现了脑血肿。随访影像显示疾病进展。她开始了iBRAF/iMEK的二线治疗,随着转移性病变的消退,她的病情迅速改善。随访影像证实明显阳性变化,肿瘤病灶几乎完全消退。她继续接受靶向治疗,并显示出积极的反应。结论。早期诊断可改善转移性黑色素瘤的预后。有腹部症状的患者应考虑腹膜转移。伽玛刀放射手术与免疫治疗或靶向治疗的结合显示出治疗脑转移的希望,但由于潜在的风险,谨慎的患者选择和监测至关重要。晚期黑色素瘤的治疗反应各不相同,本病例突出了BRAF基因突变患者对BRAF/MEK抑制剂治疗的良好反应。需要进一步的研究和临床试验来完善治疗方法和改善转移性黑色素瘤的预后。
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