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

作　　者：林秀球 李阳 林俊杰 佘昕妍 王晓华 LIN Xiuqiu;LI Yang;LIN Junjie;SHE Xinyan;WANG Xiaohua(Dermatology Hospital,Southern Medical University,Guangzhou 510091,China;Shenzhen Center for Chronic Disease Control,Shenzhen 518020,China)

机构地区：[1]南方医科大学皮肤病医院,广东广州510091 [2]深圳市慢性病防治中心,广东深圳518020

出　　处：《皮肤性病诊疗学杂志》2023年第6期549-553,共5页Journal of Diagnosis and Therapy on Dermato-venereology

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。We report a case of disseminated blue nevus-like melanoma with BRAF and CTNNB1 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 epithelioid 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 melanoma-related gene detection.Multiple liver nodules were found by PET-CT examination.The patient 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 

分 类 号：R739.5[医药卫生—肿瘤]