Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Desmoid fibromatosis in a child with DICER1-related tumor predisposition.

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

Thorner Paul Scott, Chong Anne-Laure, Jung Sung Mi, Fox Gabriel P P, Corbally Martin, Foulkes William D

Abstract excerpt

DICER1-related tumor predisposition is an inherited disorder, generally pediatric in onset, featuring a characteristic array of mainly mesenchymal tumors. We report a chest wall desmoid fibromatosis, occurring in a child who uniquely carries a germline "hotspot" DICER1 variant that likely leads to impaired miRNA biogenesis in all cells. This lesion contained a hotspot CTNNB1 c.134C > T, (p.S45F) exon 3 somatic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to beta Catenin
Share to Biomarkers, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DEAD-box RNA Helicases

Share to Desmoid Tumors

Share to Germ-Line Mutation

Share to Ribonuclease III

Share to Wnt Signaling Pathway

Source

Identifiers

PMID: 40650765
DOI: 10.1007/s00428-025-04180-9

Genes

DICER1
CTNNB1
APC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Desmoid fibromatosis in a child with DICER1-related tumor predisposition.PMID 40650765Read ↗

Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome.Semantic proximity Read ↗

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.Semantic proximity Read ↗

DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.Semantic proximity Read ↗

Desmoid-type fibromatosis of the head and neck region in the paediatric population: a clinicopathological and genetic study of seven cases.Semantic proximity Read ↗

DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor.Semantic proximity Read ↗

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis – A systematic analysis of 204 casesSemantic proximity Read ↗

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.Semantic proximity Read ↗

DICER1 Mutations in the Era of Expanding Integrative Clinical Sequencing in Pediatric OncologySemantic proximity Read ↗

Identification of previously unrecognized FAP in children with Gardner fibroma.Semantic proximity Read ↗

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.Semantic proximity Read ↗

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.Semantic proximity Read ↗

Expanding the spectrum of dicer1-associated sarcomasSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.