Evidence map›Paper›PMID 31473917›Full record

ArticleEndocrine pathology2019

The Genomic Landscape of Sporadic Prolactinomas.

Sunita M C De Sousa, Paul P S Wang, Stephen Santoreneos, Angeline Shen, Christopher J Yates, Milena Babic, Leila Eshraghi, Jinghua Feng, Barbara Koszyca, Samuel Roberts-Thomson and 3 more

Abstract read
PubMed Publisher
In one paragraph

Article in Endocrine pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
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

15 citing papers in PubMed, 25 citations in OpenAlex.

  1. Review
  2. Article
  3. Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.The Journal of clinical endocrinology and metabolism · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Frontiers in endocrinology · 2023
    Article
  9. Article
  10. Review
  11. Review
  12. Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    Review
  13. Review
  14. Review
  15. Article
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

13 authors at 3 institutions in 1 country.

Sunita M C De SousaEndocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia. Sunita.DeSousa@sa.gov.au.ORCID http://orcid.org/0000-0003-0127-6482
Paul P S WangACRF Cancer Genomics Facility, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
Stephen SantoreneosDepartment of Neurosurgery, Royal Adelaide Hospital, Adelaide, Australia.
Angeline ShenDepartment of Diabetes and Endocrinology, Royal Melbourne Hospital, Melbourne, Australia.
Christopher J YatesDepartment of Diabetes and Endocrinology, Royal Melbourne Hospital, Melbourne, Australia.
Milena BabicDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
Leila EshraghiDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
Jinghua FengACRF Cancer Genomics Facility, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
Barbara KoszycaDepartment of Anatomical Pathology, Royal Adelaide Hospital, Adelaide, Australia.
Samuel Roberts-ThomsonDepartment of Anatomical Pathology, Royal Melbourne Hospital, Melbourne, Australia.
Andreas W SchreiberACRF Cancer Genomics Facility, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
David J TorpyEndocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia.
Hamish S ScottDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia Alliance, Adelaide, Australia.
South Australia Pathology · AURoyal Adelaide Hospital · AUThe Royal Melbourne Hospital · AU

Funding

Royal Adelaide Hospital 73-05-28-06-17Royal Adelaide Hospital 8412
6 · The paper itself

Abstract

Somatic GNAS and USP8 mutations have been implicated in sporadic somatotrophinomas and corticotrophinomas, respectively. However, no genes are known to be recurrently mutated in sporadic prolactinomas. The prevalence of copy number variants (CNV), which is emerging as a mechanism of tumorigenesis in sporadic pituitary adenomas in general, is also unclear in prolactinomas. To characterize the genetic events underpinning sporadic prolactinomas, we performed whole exome sequencing of paired tumor and germline DNA from 12 prolactinoma patients. We observed recurrent large-scale CNV, most commonly in the form of copy number gains. We also identified sequence variants of interest in 15 genes. This included the DRD2, PRL, TMEM67, and MLH3 genes with plausible links to prolactinoma formation. Of the 15 genes of interest, CNV was seen at the gene locus in the corresponding tumor in 10 cases, and pituitary expression of eight genes was in the top 10% of tissues. However, none of our shortlisted somatic variants appeared to be classical driver mutations as no variant was found in more than one tumor. Future directions of research include mechanistic studies to investigate how CNV may contribute to prolactinoma formation, larger studies of relevant prolactinoma subsets according to clinical characteristics, and additional genetic investigations for aberrations not captured by whole exome sequencing.

Indexed as

AdolescentAdultAgedDNA Copy Number VariationsFemaleHumansMaleMiddle AgedPituitary NeoplasmsProlactinomaCopy number variationDriver mutationLoss of heterozygosityPituitary adenomaProlactinomaWhole exome sequencing

Identifiers

PMID31473917
OpenAlexW2971116015

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.