Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report.
Shuhei MoritaKen TakeshimaHiroyuki AriyasuYasushi FurukawaShohei KishimotoTomoya TsujiShinsuke UrakiHiroyuki MishimaAkira KinoshitaYuichi TakahashiHidefumi InabaHiroshi IwakuraHiroto FurutaMasahiro NishiAsako DoiShin-Ichi MurataKoh-Ichiro YoshiuraTakashi AkamizuPublished in: BMC endocrine disorders (2020)
We report a rare case of pheochromocytoma with type 1 Waardenburg syndrome. This is the first case to show the activation of unfolded protein response in the pheochromocytoma with the novel somatic mutation in RET gene. Our findings may support that unfolded protein response is activated in endocrine tumors, which potentially could be a candidate of therapeutic target.