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Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression.

作者信息

Sans-DeSanNicolas Lidia, Caratú Ginevra, Vidal-Cortés Oriol, Sanchez-Redondo Sara, Ferrer Berta, Mancuso Francesco, González-Sanchez Elena, Pérez-Alea Mileidys, McGrail Kimberly, Hernandez-Losa Javier, Bodet Domingo, Vivancos Ana, Garcia-Patos Vicente, Recio Juan Angel

机构信息

Biomedical Research in Melanoma-Animal Models and Cancer Laboratory, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Cancer Genomics Group Translational Research Program, Vall d'Hebron Research Institute (VHIO), Barcelona, Spain.

出版信息

J Invest Dermatol. 2018 Jun;138(6):1423-1427. doi: 10.1016/j.jid.2017.12.026. Epub 2017 Dec 29.

DOI:10.1016/j.jid.2017.12.026
PMID:29291383
Abstract
摘要

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Genetic Profiles of Squamous Cell Carcinomas Associated with Recessive Dystrophic Epidermolysis Bullosa Unveil NOTCH and TP53 Mutations and an Increased MYC Expression.与隐性营养不良性大疱性表皮松解症相关的鳞状细胞癌的基因图谱揭示了NOTCH和TP53突变以及MYC表达增加。
J Invest Dermatol. 2018 Jun;138(6):1423-1427. doi: 10.1016/j.jid.2017.12.026. Epub 2017 Dec 29.
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Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma.了解隐性营养不良型大疱性表皮松解症鳞状细胞癌的发病机制。
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A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa.在一名隐性营养不良型大疱性表皮松解症患者中作为新生事件出现的复发性无义突变。
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Targeting the Jak/Signal Transducer and Activator of Transcription 3 Pathway with Ruxolitinib in a Mouse Model of Recessive Dystrophic Epidermolysis Bullosa-Squamous Cell Carcinoma.在隐性营养不良性大疱性表皮松解症-鳞状细胞癌小鼠模型中用鲁索替尼靶向Jak/信号转导子和转录激活子3通路
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Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.隐性营养不良性大疱性表皮松解症相关鳞状细胞癌:一种发病机制复杂的神秘疾病。
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Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa.
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Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa.隐性营养不良型大疱性表皮松解症中鳞状细胞癌发生机制的最新进展
Eur J Dermatol. 2015 Apr;25 Suppl 1:30-2. doi: 10.1684/ejd.2015.2552.
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[Squamous cell cancers in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa].[Hallopeau-Siemens隐性营养不良性大疱性表皮松解症中的鳞状细胞癌]
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Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.p53和p16肿瘤抑制基因在隐性营养不良性大疱性表皮松解症相关鳞状细胞癌中的作用。
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Cancer. An anchor for tumor cell invasion.癌症。肿瘤细胞侵袭的一个锚定因素。
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JID Innov. 2025 Feb 4;5(3):100353. doi: 10.1016/j.xjidi.2025.100353. eCollection 2025 May.
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Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases.隐性营养不良型大疱性表皮松解症皮肤鳞状细胞癌的治疗:157 例系统性回顾。
Orphanet J Rare Dis. 2024 May 21;19(1):206. doi: 10.1186/s13023-024-03190-1.
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Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives.
大疱性表皮松解症相关鳞状细胞癌:从发病机制到治疗观点。
Int J Mol Sci. 2019 Nov 14;20(22):5707. doi: 10.3390/ijms20225707.