Evidence map›Paper›PMID 40879644›Full record

ArticleThe Journal of pathology2025

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

Fiona Chan-Pak-Choon, Catherine Beaumont, José Camacho Valenzuela, Josianne Leblanc, Sonja Dahlum, Reiner Siebert, François Thuot, Marc Pusztaszeri, Jacinthe Chênevert, Paz Polak and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Fiona Chan-Pak-ChoonDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0002-6317-1822
Catherine BeaumontDepartment of Ophthalmology and Otolaryngology - Head and Neck Surgery, Laval University, Quebec City, QC, Canada.ORCID https://orcid.org/0009-0003-3785-6291
José Camacho ValenzuelaDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0002-0081-7964
Josianne LeblancDepartment of Laboratory Medicine, CIUSSS Saguenay-Lac-St-Jean, Saguenay, QC, Canada.
Sonja DahlumInstitute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.
Reiner SiebertInstitute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany.ORCID https://orcid.org/0000-0001-7433-3703
François ThuotDepartment of Ophthalmology and Otolaryngology - Head and Neck Surgery, Laval University, Quebec City, QC, Canada.ORCID https://orcid.org/0000-0001-7507-589X
Marc PusztaszeriDepartment of Pathology, Jewish General Hospital, Montreal, QC, Canada.ORCID https://orcid.org/0000-0001-6490-4189
Jacinthe ChênevertDepartment of Pathology, Hôtel-Dieu de Québec, CHU de Québec, Laval University, Quebec City, QC, Canada.
Paz PolakQuest Diagnostics, Secaucus, NJ, USA.ORCID https://orcid.org/0000-0002-2153-4488
Tania Cruz MarinoDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0001-9598-6463
Barbara RiveraMolecular Mechanisms and Experimental Therapy in Oncology Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.ORCID https://orcid.org/0000-0001-9434-6288
William D FoulkesDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0001-7427-4651

Funding

CIHR FDN-148390George G Harris FellowshipGSKInstituto de Salud Carlos III PI20/01721Merck Canada Inc.Miguel Servet Fellow CP21/00038Ministère de l'Économie, de l'Innovation et de l'Énergie du QuébecPfizerResearch Institute of the McGill University Centre (RI-MUHC)
6 · The paper itself

Abstract

Attenuated familial adenomatous polyposis (AFAP) is a disorder caused by germline pathogenic variants in APC and is characterized by the presence of <100 colonic polyps and a high lifetime risk of developing colorectal cancer. Salivary gland basal cell tumours are uncommon and have not previously been reported in AFAP. We present a family with AFAP and multiple salivary gland tumours, including basal cell adenoma (BCA) and basal cell adenocarcinoma (BCAC). The colon and salivary gland tumours showed abnormal nuclear β-catenin staining. Genomic analysis of both parotid BCACs showed copy-number-neutral loss of heterozygosity (CNN-LOH) at the APC locus, implicating loss of full-length APC in the aetiology of parotid BCACs. In contrast, the submandibular BCAC showed a p.(Ile35Thr) CTNNB1 mutation. Spatial transcriptomic analysis revealed a stepwise increase in the expression of WNT pathway genes across the proband's salivary lesions, from benign (intercalated duct hyperplasia and BCAs) to malignant (BCACs). Our results showcase BCA and BCAC as potential new phenotypes of AFAP. © 2025 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Indexed as

AdenomaAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinSalivary Gland NeoplasmsWnt Signaling PathwayAdultbeta CateninFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHumansLoss of HeterozygosityMaleMiddle AgedPedigreeTranscriptomeAdenomatous Polyposis Coli ProteinAPC protein, humanbeta CateninCTNNB1 protein, humanAPCbasal cell adenocarcinomabasal cell adenomafamilial adenomatous polyposisspatial transcriptomicsWNT pathway

Identifiers

PMID40879644
PMCPMC12531123

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.