An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

Chondrogenic tumors involving the temporal bone are rare and typically arise spontaneously with unilateral presentation. Somatic IDH mutations are common in these tumors, but germline inheritance has not been documented to our knowledge. We describe familial chondrosarcoma, grade 1, of the mastoid w...

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Detalles Bibliográficos
Autores principales: Blackburn, Patrick R., Carter, Jodi M., Oglesbee, Devin, Westendorf, Jennifer J., Neff, Brian A., Stichel, Damian, Tsen, David W., Gavrilova, Ralitza H., Wesseling, Pieter, von Deimling, Andreas, Caulfield, Thomas R., Klee, Eric W., Pusch, Stefan, Inwards, Carrie Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756493/
https://www.ncbi.nlm.nih.gov/pubmed/35047830
http://dx.doi.org/10.1016/j.xhgg.2020.100006

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