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Giant congenital melanocytic naevus with a novel CUX1-BRAF fusion mutation treated with trametinib.

作者信息

Molho-Pessach Vered, Hartshtark Stav, Merims Sharon, Lotem Michal, Caplan Nadia, Alfassi Hila, Maly Alex, Goldstein Gal, Muskatel Rakefet Sidlik

机构信息

Departments of Dermatology, Hebrew University of Jerusalem, Faculty of Medicine, Jerusalem, Israel.

Oncology, Hebrew University of Jerusalem, Faculty of Medicine, Jerusalem, Israel.

出版信息

Br J Dermatol. 2022 Dec;187(6):1052-1054. doi: 10.1111/bjd.21851. Epub 2022 Sep 16.

DOI:10.1111/bjd.21851
PMID:36030465
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10087742/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e3d/10087742/633bc9e33cbe/BJD-187-1052-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e3d/10087742/633bc9e33cbe/BJD-187-1052-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e3d/10087742/633bc9e33cbe/BJD-187-1052-g001.jpg

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本文引用的文献

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Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations.新生儿和婴儿先天性黑素细胞痣的护理:综述和管理建议。
Pediatrics. 2021 Dec 1;148(6). doi: 10.1542/peds.2021-051536.
2
Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation.先天性黑色素细胞痣中的新的遗传改变:MAP2K1 种系突变伴 BRAF 体细胞突变。
Hereditas. 2020 Aug 26;157(1):35. doi: 10.1186/s41065-020-00147-9.
3
Giant Congenital Melanocytic Nevus Treated With Trametinib.巨先天性黑色素细胞痣用曲美替尼治疗。
可解释的多实例异构图网络学习建模环状RNA-药物敏感性关联预测。
BMC Biol. 2025 May 14;23(1):131. doi: 10.1186/s12915-025-02223-w.
4
Congenital melanocytic naevi initiated by BRAF fusion oncogene with firmness, pruritus and desmoplastic stroma.由BRAF融合致癌基因引发的先天性黑素细胞痣,伴有质地坚硬、瘙痒和促结缔组织增生性间质。
Br J Dermatol. 2025 Jul 17;193(2):232-239. doi: 10.1093/bjd/ljaf061.
5
Updates in the Management of Congenital Melanocytic Nevi.先天性黑素细胞痣的管理进展
Children (Basel). 2024 Jan 2;11(1):62. doi: 10.3390/children11010062.
Pediatrics. 2019 Mar;143(3). doi: 10.1542/peds.2018-2469.
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Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations.先天性巨痣中的遗传异常:超越 NRAS 突变。
J Invest Dermatol. 2019 Apr;139(4):900-908. doi: 10.1016/j.jid.2018.07.045. Epub 2018 Oct 22.
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The distribution of BRAF gene fusions in solid tumors and response to targeted therapy.BRAF基因融合在实体瘤中的分布及对靶向治疗的反应。
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