Publications by authors named "Natalie Grosek"
Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.
J Clin Endocrinol Metab
September 2024
Article Synopsis
- The study aims to uncover genetic changes linked to prolactinomas, ultimately identifying a mutation (ESR1Y537S) in an aggressive case of this tumor type at Brigham and Women's Hospital.
- A group of twenty patients was analyzed using advanced sequencing techniques, revealing the ESR1Y537S mutation in a post-menopausal woman, which is known to enhance estrogen receptor activity without needing a hormone trigger.
- The discovery of this mutation allowed for targeted treatment with elacestrant, in combination with radiotherapy, effectively managing tumor growth and significantly lowering prolactin levels in the patient.