Evidence map›Paper›PMID 37285821›Full record

ArticleActa haematologica2023

False-Negative Testing for FIP1L1::PDGFRA by Fluorescence in situ Hybridization Is a Frequent Cause of Diagnostic Delay.

Thanai Pongdee, Alexis Berry, Lauren Wetzler, Xiaoping Sun, Lauren Thumm, Pryscilla Yoon, Fei Li Kuang, Michelle Makiya, Gregory Constantine, Paneez Khoury and 4 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta haematologica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.7field-weighted citation impact, top 27% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Eosinophilic Cardiac Involvement.The journal of allergy and clinical immunology. In practice · 2025
    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

14 authors at 6 institutions in 1 country.

Thanai PongdeeDepartment of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Alexis BerryNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Lauren WetzlerNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Xiaoping SunDepartment of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Lauren ThummClinical Monitoring Research Program Directorate, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Pryscilla YoonNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Fei Li KuangDepartment of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Michelle MakiyaNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Gregory ConstantineNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Paneez KhouryNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Esther RheinbayBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Andrew A LaneBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Irina MaricDepartment of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Amy D KlionNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health · USBroad Institute · USNational Institutes of Health Clinical Center · USFrederick National Laboratory for Cancer Research · USMayo Clinic · USNorthwestern University · US

Funding

WORK ORDER 126643 B539 EXPAND IC SUITE75N91019D00024 · NIAID · LEIDOS BIOMEDICAL RESEARCH, INC. · PI PENDLETON, RICHARD · 2019 to 2025
$3932.6M
Eosinophils and Eosinophil Activation in the Pathogenesis of Human DiseaseZIAAI001130 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI KLION, AMY · 2010 to 2025
$22.5M
Deciphering the roles of eosinophils and T lymphocytes in EGIDK23AI171085 · NIAID · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Fei Li Kuang · 2023 to 2026
$764k
Laboratory Assessment of Patients with Hypereosinophilic SyndromeZIACL080004 · CLC · CLINICAL CENTER · PI MARIC, IRINA · 2009 to 2025
$0k
NCI NIH HHS 75N91019D00024NCI NIH HHS HHSN261201500003CNCI NIH HHS HHSN261201500003INIAID NIH HHS K23 AI171085
6 · The paper itself

Abstract

The imatinib-sensitive fusion gene FIP1L1::PDGFRA is the most frequent molecular abnormality identified in patients with eosinophilic myeloid neoplasms. Rapid recognition of this mutation is essential given the poor prognosis of PDGFRA-associated myeloid neoplasms prior to the availability of imatinib therapy. We report a case of a patient in whom delayed diagnosis resulted in cardiac transplantation for eosinophilic endomyocardial fibrosis. The delay in diagnosis was due, in part, to a false-negative result in fluorescence in situ hybridization (FISH) testing for FIP1L1::PDGFRA. To explore this further, we examined our cohort of patients presenting with confirmed or suspected eosinophilic myeloid neoplasms and found 8 additional patients with negative FISH results despite a positive reverse-transcriptase polymerase chain reaction test for FIP1L1::PDGFRA. More importantly, false-negative FISH results delayed the median time to imatinib treatment by 257 days. These data emphasize the importance of empiric imatinib therapy in patients with clinical features suggestive of PDGFRA-associated disease.

Indexed as

Myeloproliferative DisordersNeoplasmsBenzamidesDelayed DiagnosisHumansImatinib MesylateIn Situ Hybridization, FluorescenceOncogene Proteins, FusionPiperazinesPyrimidinesBenzamidesImatinib MesylateOncogene Proteins, FusionPiperazinesPyrimidinesClinical studiesEosinophiliaMyeloproliferative disorders

Identifiers

PMID37285821
PMCPMC10809802
OpenAlexW4379768233

What OpenQuestion holds

Textmetadata
LicenceTDM
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.