Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko’s lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18 months of age. Parallel sequencing identified a gain-of-func...

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Detalles Bibliográficos
Autores principales: Zuntini, Roberta, Cattani, Chiara, Pedace, Lucia, Miele, Evelina, Caraffi, Stefano Giuseppe, Gardini, Stefano, Ficarelli, Elena, Pizzi, Simone, Radio, Francesca Clementina, Barone, Angelica, Piana, Simonetta, Bertolini, Patrizia, Corradi, Domenico, Marinelli, Maria, Longo, Caterina, Motolese, Alberico, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447906/
https://www.ncbi.nlm.nih.gov/pubmed/37636262
http://dx.doi.org/10.3389/fgene.2023.1231434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447906/
https://www.ncbi.nlm.nih.gov/pubmed/37636262
http://dx.doi.org/10.3389/fgene.2023.1231434

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