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Article

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

Virchows Archiv : an international journal of pathology - 1 Jun 2024

Pelletier Dylan, Sabbaghian Nelly, Chong Anne-Laure, Priest John R, Elsheikh Ahmed Yomna, Fox Gabriel P, Fabian Marc R, Foulkes William D

Abstract excerpt

DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline "hotspot" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant...

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Identifiers

PMID: 38355738
DOI: 10.1007/s00428-024-03759-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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