BRAF和CTNNB1基因突变表现为泛发性蓝痣样黑色素瘤1例
BRAF and CTNNB1 gene mutations present as disseminated blue nevus-like melanoma:A case report
林秀球 1李阳 2林俊杰 2佘昕妍 2王晓华2
作者信息
- 1. 南方医科大学皮肤病医院,广东 广州 510091;深圳市慢性病防治中心,广东 深圳 518020
- 2. 南方医科大学皮肤病医院,广东 广州 510091
- 折叠
摘要
报告BRAF和CTNNB1基因突变表现为泛发性蓝痣样黑色素瘤1例.患者男,34岁,全身皮肤泛发蓝黑色丘疹、结节半年余.皮肤科检查:患者全身泛发多个大小不一蓝黑色丘疹、结节、斑块,直径3～15 mm不等,质软,无溃疡坏死,口腔粘膜、睑结膜、手掌、足底均可见少量蓝黑色斑丘疹.皮损组织病理示真皮大量上皮样细胞及黑色素.免疫组化示HMB-45(+),Mitf(+),SOX-10(部分+),Melan-A(少量+),S-100(少量+),Ki-67 约 10％(+).基因检测示 BRAF 基因 V600E 突变 c1799T＞A(p.V600E),CTNNB1基因激活突变c.122C＞T(p.T41I).PET-CT检查发现肝脏多发结节.考虑诊断为泛发性蓝痣样黑色素瘤,肝脏占位性病变.予甲磺酸达拉非尼、曲美替尼治疗2个月后,原有皮疹开始缩小,未见新发,患者肝脏结节病变较前缩小.目前已失访.
Abstract
We report a case of disseminated blue nevus-like melanoma with BRAF and CT-NNB1 gene mutations.A 34-year-old man developed generalized blue-black maculopapules and nodules,sized 3-15 mm in diameters,all over the body,including the palms,soles,mucosa of the mouth and eyes for more than six months.The skin pathology showed a large number of epithe-lioid cells and melanin in the dermis,and immunohistochemistry showed positive for HMB-45,Mitf,SOX-10(partially),Melan-A(slightly),S-100(slightly)and Ki-67(about 10％).BRAF V600E(c1799T＞A)and CTNNB1 T41I(c.122C＞T)mutations were detected by tissue mela-noma-related gene detection.Multiple liver nodules were found by PET-CT examination.The pa-tient was diagnosed with disseminated blue nevus-like melanoma.After two months of treatment with dabrafenib mesylate and trametinib,the skin rashes became smaller and no new lesions were observed.Now the patient was lost to follow up.
关键词
蓝痣样黑色素瘤/BRAF基因/CTNNB1基因/基因突变Key words
blue nevus-like melanoma/BRAF gene/CTNNB1 gene/gene mutation引用本文复制引用
出版年
2023
国家科技期刊平台
NSTL
维普
万方数据