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Article

Genomic profiling of a DICER1-wildtype thyroblastoma reveals AGK-BRAF fusion, EIF1AX duplication, and TERT promoter mutations: integrated genomic and pathway analysis.

Frontiers in endocrinology - 1 Jan 2026

Gualandi Alberto, Picozzi Fernanda, Di Mauro Annabella, Pelotti Susi, D'Arbitrio Imma, De Luca Pasquale, Cannella Lucia, Pizzolorusso Antonio, Ottaiano Alessandro, Peddio Annarita, Ferrara Gerardo, Tafuto Salvatore

Abstract excerpt

Introduction: Thyroblastoma is a rare and highly aggressive embryonal thyroid malignancy typically associated with DICER1 alterations. However, DICER1-wildtype cases remain poorly characterized at the molecular level. Methods: We report a case of aggressive thyroblastoma in a 62-year-old male, negative for canonical DICER1 RNase IIIb mutations. Comprehensive genomic profiling was performed using Oxford Nanopore...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oncogene Proteins, Fusion

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Source

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Identifiers

PMID: 42100208
DOI: 10.3389/fendo.2026.1747919
PMCID: PMC13143743

Genes

DICER1
TERT
AGK
BRAF
EIF1AX
DUX4

Variants

Provenance

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