Evidence map›Paper›PMID 39238355›Full record

ArticleThe Journal of clinical endocrinology and metabolism2025

Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.

Ticiana Paes, Jacobo Buelvas Mebarak, John C Magnotto, George A Stamatiades, Yanan Kuang, Cloud P Paweletz, Edward R Laws, Natalie Grosek, Rona S Carroll, Rinath Jeselsohn and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Therapy for aggressive pituitary tumors and carcinomas.Reviews in endocrine & metabolic disorders · 2026
    Review
  2. Article
  3. Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.The Journal of clinical endocrinology and metabolism · 2025
    Article
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Ticiana PaesDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-3078-5200
Jacobo Buelvas MebarakDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
John C MagnottoDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
George A StamatiadesDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Yanan KuangDepartment of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02215, USA.
Cloud P PaweletzDepartment of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02215, USA.
Edward R LawsDepartment of Neurosurgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Natalie GrosekDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Rona S CarrollDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Rinath JeselsohnDepartment of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02215, USA.
Dipika R MohanDepartment of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-6334-9416
Antonio Marcondes LerarioDepartment of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
Minh T TruongDepartment of Radiation Oncology, Boston University Medical Center, Boston, MA 02118, USA.
Wenya Linda BiDepartment of Neurosurgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-4635-0247
David A ReardonDepartment of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02215, USA.
David M MeredithDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Ursula B KaiserDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Ana Paula AbreuDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-5505-0852

Funding

Reproductive physiology of gonadotropin synthesisR37HD019938 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI Ursula B. Kaiser · 2019 to 2026
$4.3M
Innovation Evergreen Award, Brigham and Women's HospitalNICHD NIH HHS R37 HD019938
6 · The paper itself

Abstract

CONTEXT AND

objectiveThe 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.

settingBrigham and Women's Hospital.

designMassively parallel-sequencing panel (OncoPanel) was performed in a cohort of patients with prolactinomas to identify mutations and copy number variation.

resultsTwenty subjects (mean age, 38.6 years; 12 women and 8 men) were included in this study. A somatic ESR1Y537S mutation was identified in an aggressive prolactinoma in a postmenopausal woman. No SF3B1 or other somatic mutations were identified. The median number of copy number variation events identified in our samples was 46; the prolactinoma with ESR1Y537S had the highest number with 233 events. In breast cancer, ESR1Y537S has been shown to activate estrogen receptor alpha independent of ligand binding. In patients with resistant breast cancer and ESR1Y537S, elacestrant, a second-line estrogen receptor degrader, improves progression-free survival. Therefore, given the lack of response to multimodality therapies, elacestrant was initiated in this patient after the third cycle of radiotherapy. Elacestrant, along with radiotherapy, controlled tumor growth and significantly reduced prolactin levels.

conclusionMolecular 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.

Indexed as

Estrogen Receptor alphaMutationPituitary NeoplasmsProlactinomaAdultDNA Copy Number VariationsFemaleHumansMaleMiddle AgedESR1 protein, humanEstrogen Receptor alphabreast cancercell-free DNAESR1OncoPanelprolactinomarecurrent

Identifiers

PMID39238355
PMCPMC13031997

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.