Evidence map›Paper›PMID 31996917›Full record

Observational studyThe Journal of clinical endocrinology and metabolism2020

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.

Pedro Marques, Francisca Caimari, Laura C Hernández-Ramírez, David Collier, Donato Iacovazzo, Amy Ronaldson, Kesson Magid, Chung Thong Lim, Karen Stals, Sian Ellard and 3 more

Registry-linked trialAbstract readObservational Study
In one paragraph

Observational study in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00461188 (Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA), which is not on this map. Cited by 43 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 1 pooled it
–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.

NCT00461188 recruitingnot on this map

Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA

TypeobservationalSponsorBarts & The London NHS TrustRan2007 to 2037Enrolled10,000ConditionsAcromegaly, Gigantism, Familial Isolated Pituitary Adenoma, FIPA
3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Irish giants: from myth to medicine.Irish journal of medical science · 2026
    Article
  4. Article
  5. Review
  6. Review
  7. Genetics of familial acromegaly and pituitary gigantism.The Journal of clinical endocrinology and metabolism · 2026
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Paediatric Endocrinology: Before and Beyond 'Ringing the Bell'.Journal of paediatrics and child health · 2025
    Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Pituitary Apoplexy: An Updated Review.Journal of clinical medicine · 2024
    Review
  19. Article
  20. Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine Society · 2024
    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.

Pedro MarquesCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Francisca CaimariCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Laura C Hernández-RamírezCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
David CollierCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Donato IacovazzoCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Amy RonaldsonCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Kesson MagidCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Chung Thong LimCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Karen StalsExeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, UK.
Sian EllardExeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, UK.
Ashley B GrossmanCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Márta KorbonitsCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
FIPA Consortium

Funding

Medical Research Council MR/M018539/1MRF_ C0467
6 · The paper itself

Abstract

contextGermline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs).

objectiveTo compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients.

design12-year prospective, observational study. PARTICIPANTS &

settingWe studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. INTERVENTIONS & OUTCOME: AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310).

resultsProspectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650).

conclusionsProspectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.

Indexed as

MutationAdolescentAdultAge of OnsetBiomarkersFemaleFollow-Up StudiesGenetic TestingGrowth Hormone-Secreting Pituitary AdenomaHumansIntracellular Signaling Peptides and ProteinsMaleMass ScreeningPituitary NeoplasmsPrognosisProspective Studiesaryl hydrocarbon receptor-interacting proteinBiomarkersIntracellular Signaling Peptides and Proteinsaryl hydrocarbon receptor-interacting proteinfamilial isolated pituitary adenomagigantismpituitary adenomapituitary neuroendocrine tumorsomatotropinoma

Identifiers

PMID31996917
PMCPMC7137887

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Registered trials

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.