Evidence map›Paper›PMID 24974848›Full record

ArticleNature genetics2014

A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors.

Iacopo Petrini, Paul S Meltzer, In-Kyu Kim, Marco Lucchi, Kang-Seo Park, Gabriella Fontanini, James Gao, Paolo A Zucali, Fiorella Calabrese, Adolfo Favaretto and 12 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05832827 (First-line Carboplatin/Paclitaxel/Lenvatinib/Pembrolizumab Combination for Previously Untreated Advanced or Recurrent Thymic Carcinomas), which is not on this map. Cited by 148 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
148citing papers in PubMed, 2 pooled it
9.8field-weighted citation impact, top 1% 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.

NCT05832827 phase2recruitingnot on this mapstarted 2023, after this paper: background citation

First-line Carboplatin/Paclitaxel/Lenvatinib/Pembrolizumab Combination for Previously Untreated Advanced or Recurrent Thymic Carcinomas

TypeinterventionalSponsorNational Cancer Center, JapanRan2023 to 2028Enrolled35ConditionsUntreated Advanced or Recurrent Thymic CarcinomasArmsMK-3475, Lenvatinib, Carboplatin, Paclitaxel
3 · Its place in the literature

Who cites it

148 citing papers in PubMed, 2 syntheses or guidelines pooled it, 256 citations in OpenAlex.

  1. Pooled it
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  6. Thymic epithelial tumors: what's next?Cancer metastasis reviews · 2026
    Review
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88 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors at 5 institutions in 2 countries.

Iacopo PetriniMedical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.
Paul S MeltzerGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
In-Kyu KimLombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA.
Marco LucchiThoracic Surgery, Pisa University Hospital, Pisa, Italy.
Kang-Seo ParkLombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA.
Gabriella FontaniniSurgical Pathology, Pisa University Hospital, Pisa, Italy.
James GaoMedical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.
Paolo A ZucaliMedical Oncology, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
Fiorella CalabreseSurgical Pathology, Padua University Hospital, Padua, Italy.
Adolfo FavarettoMedical Oncology, Padua University Hospital, Padua, Italy.ORCID 0000000181757467
Federico ReaThoracic Surgery, Padua University Hospital, Padua, Italy.
Jaime Rodriguez-CanalesLaboratory of Pathology, National Cancer Institute, Bethesda, Maryland, USA.
Robert L WalkerGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Marbin PinedaGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Yuelin J ZhuGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Christopher LauGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Keith J KillianGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Sven BilkeGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
Donna VoellerMedical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.
Sivanesan DakshanamurthyLombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA.
Yisong Wang1] Medical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA. [2] Lombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA.
Giuseppe Giaccone1] Medical Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA. [2] Lombardi Comprehensive Cancer Center, Georgetown University, Washington DC, USA.
National Cancer Institute · USGeorgetown University · USUniversity of Padua · ITAzienda Ospedaliera Universitaria Pisana · ITHumanitas University · IT

Funding

Tissue Culture Shared ResourceP30CA051008 · NCI · GEORGETOWN UNIVERSITY · PI STEPHEN W BYERS · 1990 to 2026
$71.5M
Molecular Profiling of Clinical SpecimensZICBC011040 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI EDELMAN, DANIEL · 2009 to 2020
$25.5M
Cancer Genomics Technology DevelopmentZIABC011091 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MELTZER, PAUL S. · 2009 to 2025
$16.9M
Identify SNPs and Polymorphisms Involved in the Development of Prostate CancerZIABC010453 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI FIGG, WILLIAM DOUGLAS · 2009 to 2025
$10.4M
SNPs /Polymorphisms in Development of Prostate CancerZ01BC010453 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI FIGG, WILLIAM DOUGLAS · 2002 to 2008
$938k
Intramural NIH HHS Z01 BC010453NCI NIH HHS P30 CA051008
6 · The paper itself

Abstract

We analyzed 28 thymic epithelial tumors (TETs) using next-generation sequencing and identified a missense mutation (chromosome 7 c.74146970T>A) in GTF2I at high frequency in type A thymomas, a relatively indolent subtype. In a series of 274 TETs, we detected the GTF2I mutation in 82% of type A and 74% of type AB thymomas but rarely in the aggressive subtypes, where recurrent mutations of known cancer genes have been identified. Therefore, GTF2I mutation correlated with better survival. GTF2I β and δ isoforms were expressed in TETs, and both mutant isoforms were able to stimulate cell proliferation in vitro. Thymic carcinomas carried a higher number of mutations than thymomas (average of 43.5 and 18.4, respectively). Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas. These findings will complement the diagnostic assessment of these tumors and also facilitate development of a molecular classification and assessment of prognosis and treatment strategies.

Indexed as

Mutation, MissenseAdultAgedAged, 80 and overCell ProliferationFemaleHumansMaleMiddle AgedNeoplasms, Glandular and EpithelialPrognosisThymus NeoplasmsTranscription Factors, TFIIYoung AdultGTF2I protein, humanTranscription Factors, TFII

Identifiers

PMID24974848
PMCPMC5705185
OpenAlexW2071071105

What OpenQuestion holds

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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.