Joyce Catherine, Konrade Elliot, Kenyon Jessup Wade
Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Kansas, USA.
Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Kansas, USA
BMJ Case Rep. 2020 Jan 22;13(1):e232488. doi: 10.1136/bcr-2019-232488.
Mediastinal malignant melanoma is rare as both primary and metastatic lesions. We present the case of a 50-year-old man with diagnosis of recurrent melanoma of the mediastinum. Our patient was previously treated for cutaneous melanoma in 2001 with surgical excision. He presented with symptoms of exertional dyspnoea, dull chest pain and non-productive cough for 12 weeks. CT revealed a large heterogeneously enhancing mass, measuring 10.7×7.6 cm, centred within the aortopulmonary window which abutted the adjacent pericardium. Open biopsy of the epicardial mass was performed via left anterior thoracotomy. Immunohistochemical stains performed on the mass were positive for CD99, focally positive for CD56, SOX10, S100 and WT-1. A diagnosis of metastatic melanoma was established. The patient was started on pembrolizumab with pending BRAF testing. V600E and V600K mutations in exon 15 of the gene were codetected, and the patient was treated with dabrafenib and trametinib.
纵隔恶性黑色素瘤无论是原发性还是转移性病变都很罕见。我们报告一例50岁男性,诊断为复发性纵隔黑色素瘤。我们的患者曾在2001年接受过皮肤黑色素瘤的手术切除治疗。他出现劳力性呼吸困难、钝痛胸痛和干咳症状12周。CT显示一个大的不均匀强化肿块,大小为10.7×7.6厘米,位于主动脉肺动脉窗内,毗邻相邻的心包。通过左前开胸手术对心外膜肿块进行了开放活检。对肿块进行的免疫组织化学染色显示CD99呈阳性,CD56、SOX10、S100和WT-1呈局灶性阳性。确诊为转移性黑色素瘤。患者开始使用帕博利珠单抗治疗,同时等待BRAF检测。在该基因第15外显子中同时检测到V600E和V600K突变,患者接受了达拉非尼和曲美替尼治疗。