Article
JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease.
Blood - 15 May 2014
Li Juan, Kent David G, Godfrey Anna L, Manning Harriet, Nangalia Jyoti, Aziz Athar, Chen Edwin, Saeb-Parsy Kourosh, Fink Juergen, Sneade Rachel, Hamilton Tina L, Pask Dean C, Silber Yvonne, Zhao Xiaodong, Ghevaert Cedric, Liu Pentao, Green Anthony R
Abstract excerpt
Genomic regions of acquired uniparental disomy (UPD) are common in malignancy and frequently harbor mutated oncogenes. Homozygosity for such gain-of-function mutations is thought to modulate tumor phenotype, but direct evidence has been elusive. Polycythemia vera (PV) and essential thrombocythemia (ET), 2 subtypes of myeloproliferative neoplasms, are associated with an identical acquired JAK2V617F mutation but...
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