Article
Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.
The Journal of clinical endocrinology and metabolism - 17 Mar 2025
Paes Ticiana, Buelvas Mebarak Jacobo, Magnotto John C, Stamatiades George A, Kuang Yanan, Paweletz Cloud P, Laws Edward R, Grosek Natalie, Carroll Rona S, Jeselsohn Rinath, Mohan Dipika R, Marcondes Lerario Antonio, Truong Minh T, Bi Wenya Linda, Reardon David A, Meredith David M, Kaiser Ursula B, Abreu Ana Paula
Abstract excerpt
CONTEXT AND OBJECTIVE: The genetic profile of prolactinomas remains poorly understood. Our objective is to identify somatic genetic alterations associated with prolactinomas and to report the identification of an activating ESR1 mutation (ESR1Y537S) in an aggressive prolactinoma. SETTING: Brigham and Women's Hospital. DESIGN: Massively parallel-sequencing panel (OncoPanel) was performed in a cohort of patients...
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