Cargando…
Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia
We recently described a novel, non-inherited syndrome of tumor-specific mutations of hypoxia-inducible factor 2α, encoded by EPAS1, leading to formation of multiple paragangliomas and somatostatinomas in the setting of congenital polycythemia. Although we had suspected that somatic mosaicism of EPAS...
Autores principales: | Yang, Chunzhang, Hong, Christopher S, Prchal, Josef T, Balint, Melina T, Pacak, Karel, Zhuang, Zhengping |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785578/ https://www.ncbi.nlm.nih.gov/pubmed/27081557 http://dx.doi.org/10.1038/hgv.2015.53 |
Ejemplares similares
-
SUN-330 Non-Mosaic Somatic HIF2A Mutations Associated with Late-Onset Polycythemia-Paraganglioma Syndrome: Newly Recognized Subclass of Polycythemia-Paraganglioma Syndrome
por: Pang, Ying, et al.
Publicado: (2019) -
Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism
por: Hong, Christopher S, et al.
Publicado: (2016) -
A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia
por: Yu, Jiong, et al.
Publicado: (2020) -
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2(V617F) positive polycythemia vera: a case report
por: Pang, Ying, et al.
Publicado: (2018) -
Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
por: Lang, Fengchao, et al.
Publicado: (2021)