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Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline

The incorporation of tumor-normal genomic testing into oncology can identify somatic mutations that inform therapeutic measures but also germline variants associated with unsuspected cancer predisposition. We describe a case in which a RET variant was identified in a 3-yr-old male with relapsed leuk...

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Detalles Bibliográficos
Autores principales: Pendrick, Danielle M., Oberg, Jennifer A., Hsiao, Susan J., Chung, Wendy K., Koval, Carrie, Sireci, Anthony, Kuo, Jennifer H., Satwani, Prakash, Glasser, Chana L., Sulis, Maria Luisa, Mansukhani, Mahesh M., Glade Bender, Julia L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549565/
https://www.ncbi.nlm.nih.gov/pubmed/30936199
http://dx.doi.org/10.1101/mcs.a003889