Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease.
Tatsuki OgasawaraYoichi FujiiNobuyuki KakiuchiYusuke ShiozawaRyuichi SakamotoYoshihiro OgawaKatsuki OotaniEtsuro ItoTomoaki TanakaKenichiro WatanabeYusaku YoshidaNoriko KimuraYuichi ShiraishiKenichi ChibaHiroko TanakaSatoru MiyanoSeishi OgawaPublished in: The Journal of clinical endocrinology and metabolism (2022)
Our results highlight a key role of activated hypoxia-inducible factor 2α due to mutated EPAS1 in positive selection under hypoxic environments, although hypoxemia itself may not necessarily be required for the EPAS1-mutated clones to progress to PPGL.
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