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

Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient.

Familial cancer - 1 Dec 2013

Butel-Simoes G I, Spigelman A D

Abstract excerpt

We report a familial adenomatous polyposis patient with a known truncating mutation on exon 15 of the APC gene who developed an invasive follicular thyroid cancer in addition to multiple intra-cranial and spinal desmoids. This combination of manifestations has not previously been recorded in the literature.

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyposis Coli
Share to Adenomatous Polyposis Coli Protein
Share to Central Nervous System Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Desmoid Tumors

Share to Neoplasms, Second Primary

Share to Prognosis

Share to Thyroid Neoplasms

Source

Identifiers

PMID: 23604857
DOI: 10.1007/s10689-013-9640-0

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient.PMID 23604857Read ↗

Intrathoracic sporadic desmoid tumor with the beta-catenin gene mutation in exon 3 and activated cyclin D1.Semantic proximity Read ↗

Familial adenomatous polyposis: not all masses are desmoids.Semantic proximity Read ↗

Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs.Semantic proximity Read ↗

Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomasSemantic proximity Read ↗

A Case of APC Gene Mutation-Associated Familial Adenomatous Polyposis With Multiple System Malignancies.Semantic proximity Read ↗

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

Comparison of two cases of Familial Adenomatous Polyposis with the same APC genotype and different phenotypes.Semantic proximity Read ↗

Gardner syndrome in an adolescent girl presenting with multifocal desmoid fibromatosis and a pathogenic APC mutationSemantic proximity Read ↗

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