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Article

Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.

Virchows Archiv : an international journal of pathology - 1 Feb 2026

Yin Lisha, Bai Yanhua, Wang Yanfei, Wu BinYan, Diao XinTing, Sun Yu

Abstract excerpt

Thyroblastoma is listed under "embryonic thyroid neoplasms" in the 5th edition of the WHO classification of thyroid tumors. This tumor mirrors the embryonic development of the thyroid. Molecular analysis has identified frequent somatic hotspot mutations in the DICER1 gene. While thyroblastoma shares morphological features with other blastomas linked to DICER1 syndrome, previous studies have not confirmed germline...

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Identifiers

PMID: 41254386
DOI: 10.1007/s00428-025-04288-y

Genes

DICER1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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