Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.
Ticiana PaesJacobo Buelvas MebarakJohn C MagnottoGeorge A StamatiadesYanan KuangCloud PaweletzEdward R LawsNatalie GrosekRona S CarrollRinath JeselsohnDipika R MohanAntonio Marcondes LerarioMinh T TruongWenya Linda BiDavid A ReardonDavid M MeredithUrsula B KaiserAna Paula AbreuPublished in: The Journal of clinical endocrinology and metabolism (2024)
Molecular profiling allowed the identification of ESR1Y537S, in an aggressive prolactinoma. ESR1Y537S was not detected early in the course of the disease and is likely conferring tumor aggressiveness. This finding emphasizes the significance of estrogen receptor signaling in prolactinomas. It also allowed the use of targeted therapy with successful control of disease progression.