Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma
Authors' conclusion
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.
Study context
- Population
- Patients with prolactinomas, Brigham and Women's Hospital; mean age 38.6 years; 12 women and 8 men
- Participants
- 20 patients
- Outcome
- Somatic mutations and copy number variation in prolactinomas
Methodological detailsmolecular profiling, single-centre, massively parallel-sequencing panel (OncoPanel)
- Molecular profiling
- Single-centre
- Massively parallel-sequencing panel (OncoPanel)
Main finding
As reported in the abstract
Median number of copy number variation events
46
Copy number variation events in the prolactinoma with ESR1Y537S (highest)
233
Observational data: associations, not effects.
Further findings
Elacestrant in the patient with ESR1Y537S · initiated after the third cycle of radiotherapy
- Elacestrant with radiotherapy controlled tumor growth and significantly reduced prolactin levels
Original publication
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