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

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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.

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Liu, Q., Tong, D., Liu, G., Yi, Y., Zhang, D., Zhang, J., … Jiang, J. (2017). HIF2A germline–mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. Cancer Biology and Therapy, 18(12), 944–947. https://doi.org/10.1080/15384047.2017.1394553

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