皮肤性病诊疗学杂志2023，Vol.30Issue(6)：549-553,5.DOI:10.3969/j.issn.1674-8468.2023.06.012
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
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
林秀球,李阳,林俊杰,佘昕妍,王晓华..BRAF和CTNNB1基因突变表现为泛发性蓝痣样黑色素瘤1例[J].皮肤性病诊疗学杂志,2023,30(6):549-553,5.
