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HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.


ABSTRACT: 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.Gly537Trp) in the blood of the patient and his daughter. Meanwhile, we identified an inactivating VHL mutation (c.391A>T, p.N131Y), as well as TP53 mutation(c.977A>T, p.E326V) and mTOR mutation(c.7498A>T, p.I2500F) in renal cancer tissue. Moreover, protein levels of VHL, HIF1A, HIF2A, EPO, and VEGF estimated by immunohistochemical staining substantiated hyperactivation of the oxygen-sensing pathway. In addition, we identified 158 somatic SNP/indel mutations, including 90 missense/nonsense/splice/stop-loss mutations by whole-exome sequencing (WES) of the tumor specimen and matched normal DNA.

SUBMITTER: Liu Q 

PROVIDER: S-EPMC5718818 | biostudies-other | 2017 Dec

REPOSITORIES: biostudies-other

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HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

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]

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