Evidence map›Paper›PMID 41492106›Full record

ArticlePathology international2026

The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis.

Maaia Margo Jentus, Tom van Wezel, Dina Ruano, Marieke Snel, Abbey Schepers, Stijn Crobach, Hans Morreau

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Article in Pathology international, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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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

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Maaia Margo JentusDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.ORCID https://orcid.org/0000-0001-5724-7643
Tom van WezelDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Dina RuanoDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Marieke SnelDepartment of Medicine, Leiden University Medical Center, Division of Endocrinology, Leiden, the Netherlands.
Abbey SchepersDepartment of Surgery, Leiden University Medical Center, Leiden, the Netherlands.
Stijn CrobachDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Hans MorreauDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Previously, we concluded that thyroid resections with multifocal, genetically distinct lesions more often showed florid chronic lymphocytic thyroiditis (CLT) than thyroids with clonally related multiple lesions. In this study, we characterized a consecutive cohort of thyroid lesions for molecular drivers and investigated the relationship between the molecular alteration type and florid CLT. Molecular diagnostic data from 414 patients (2016-2025) were retrospectively reviewed, including clinical information and histopathological evaluation. Gene fusion, somatic mutation, and chromosomal LOH/imbalance/copy-number analysis results were available for 342 cases. Eighty-eight gene rearrangements were identified across 86 patients. Most had been previously reported in thyroid neoplasia. Five well-known gene fusions revealed unusual breakpoints. Three gene fusions, previously reported only in nonthyroid malignancies (BRAF-TRIM24, SLC12A7-TERT, PVT1-MYC), were described for the first time in thyroid carcinoma. Three novel gene fusions (TRIM65-RET, FGFR2-WARS1, PPARGC1A-PPARɣ) produced in-frame translation products leading to corresponding mRNA expression. BRAF exon-skipping events were identified in treatment-naïve papillary thyroid carcinomas. Florid CLT (p = 0.002) and younger age (OR = 0.97 per year, p < 0.001) were independently associated with gene fusion-positive tumors. Sex, follicular nodular disease, and Graves' disease were not significant predictors. Our findings suggest an association between fusion-driven thyroid neoplasia and florid CLT, warranting further investigation.

Indexed as

Gene FusionHashimoto DiseaseThyroid NeoplasmsAdultAgedAged, 80 and overFemaleHumansMaleMiddle AgedRetrospective StudiesThyroid Cancer, PapillaryThyroid Glandchronic lymphocytic thyroiditisgene fusionsmolecular diagnosticsmolecular pathologythyroid cancer

Identifiers

PMID41492106
PMCPMC12835965

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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.