Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma

PURPOSE: To report a case of aggressive infantile orbital embryonal rhabdomyosarcoma harboring germline ATM mutation and 2 somatic mutations as revealed by next-generation sequencing and the potential application for personalized therapy. OBSERVATIONS: A 7-month-old male developed a rapidly progress...

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Detalles Bibliográficos
Autores principales: Jaru-ampornpan, Pimkwan, Tansirisithikul, Chottiwat, Prukajorn, Manachaya, Sampattavanich, Somponnat, Pithukpakorn, Manop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353380/
https://www.ncbi.nlm.nih.gov/pubmed/34401606
http://dx.doi.org/10.1016/j.ajoc.2021.101189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353380/
https://www.ncbi.nlm.nih.gov/pubmed/34401606
http://dx.doi.org/10.1016/j.ajoc.2021.101189

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