Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma

In this case report we evaluate the genetics of and scientific basis of therapeutic options for a 14-yr-old male patient diagnosed with metastatic PAX3–FOXO1 fusion positive alveolar rhabdomyosarcoma. A distinguishing genetic feature of this patient was a germline RET C634F mutation, which is a know...

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Detalles Bibliográficos
Autores principales: Crawford, Kenneth A., Berlow, Noah E., Tsay, Jennifer, Lazich, Michael, Mancini, Maria, Noakes, Christopher, Huang, Tannie, Keller, Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304354/
https://www.ncbi.nlm.nih.gov/pubmed/32532875
http://dx.doi.org/10.1101/mcs.a004853

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304354/
https://www.ncbi.nlm.nih.gov/pubmed/32532875
http://dx.doi.org/10.1101/mcs.a004853

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