A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report

BACKGROUND: Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). The patient reported here is only the eighth case of MNTI presenting in an extremity, and the first reported in the fibula. CASE PRESENTATION: A 2-month-o...

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Detalles Bibliográficos
Autores principales: Barnes, David J., Hookway, Edward, Athanasou, Nick, Kashima, Takeshi, Oppermann, Udo, Hughes, Simon, Swan, Daniel, Lueerssen, Dietrich, Anson, John, Hassan, A. Bassim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983003/
https://www.ncbi.nlm.nih.gov/pubmed/27519597
http://dx.doi.org/10.1186/s12885-016-2669-3

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