BRAF and CTNNB1 gene mutations present as disseminated blue nevus-like melanoma:A case report
LIN Xiuqiu
LI Yang
LIN Junjie
SHE Xinyan
WANG Xiaohua
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.
Keywords：blue nevus-like melanomaBRAF geneCTNNB1 genegene mutation
Publication Date：2023-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 549-553 )