Ontology highlight
ABSTRACT:
SUBMITTER: Liu Q
PROVIDER: S-EPMC5718818 | biostudies-other | 2017 Dec
REPOSITORIES: biostudies-other
Liu Qiuli Q Tong Dali D Liu Gaolei G Yi Yuting Y Zhang Dianzheng D Zhang Jun J Zhang Yao Y Huang Zaoming Z Li Yaoming Y Chen Rongrong R Guan Yanfang Y Yi Xin X Jiang Jun J
Cancer biology & therapy 20171127 12
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 patient and his daughter. Meanwhile, we identified an inactivating VHL mutation (c.391A>T, ...[more]