Article
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
Cancer biology & therapy - 2 Dec 2017
Liu Qiuli, Tong Dali, Liu Gaolei, Yi Yuting, Zhang Dianzheng, Zhang Jun, Zhang Yao, Huang Zaoming, Li Yaoming, Chen Rongrong, Guan Yanfang, Yi Xin, Jiang Jun
Abstract excerpt
In this study, we report here a rare case of polycythemia and cRCC in the same patient, which may be helpful in understanding clinical features and molecular mechanisms underlying VHL-mutation-associated cRCC and polycythemia induced by germline mutation of HIF2A. Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the...
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