Evidence map›Paper›PMID 42262624›Full record

ArticleHead and neck pathology2026

Salivary Gland Carcinoma with DLG1::BRAF Gene Fusion: Report of a Case.

Jose G Mantilla, Matija Snuderl, Cheng Z Liu, Fang Zhou

Abstract readCase Reports
In one paragraph

Article in Head and neck pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Jose G MantillaDepartment of Pathology, NYU Grossman School of Medicine, 560 1st Ave, Ste TH 413 B, New York, NY, 10016, USA. Jose.MantillaArango@nyulangone.org.
Matija SnuderlDepartment of Pathology, NYU Grossman School of Medicine, 560 1st Ave, Ste TH 413 B, New York, NY, 10016, USA.
Cheng Z LiuDepartment of Pathology, NYU Grossman School of Medicine, 560 1st Ave, Ste TH 413 B, New York, NY, 10016, USA.
Fang ZhouDepartment of Pathology, NYU Grossman School of Medicine, 560 1st Ave, Ste TH 413 B, New York, NY, 10016, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe widespread use of next-generation sequencing has allowed refinement of the classification and diagnosis of salivary gland neoplasms, leading to identification of recurrent gene fusions in a majority of salivary gland carcinoma types, and characterization of several novel entities. A small proportion of salivary gland carcinomas do not meet the diagnostic criteria for any known tumor type and are therefore classified as "salivary gland carcinoma, not otherwise specified". Given the ever-growing arsenal of tools to classify these lesions, the number of cases diagnosed as such is expected to continue decreasing. CASE PRESENTATION: In this article we describe a novel DLG1::BRAF fusion in a high grade salivary gland carcinoma arising in the tongue of a 78 year-old woman. This tumor had solid and cribriform architectural features and was composed of a dual population of abluminal and mucinous cells. Immunohistochemically, it had variable SOX10 expression, variable and strong MUC4 reactivity and expression of p63 and p40 (delta Np63) in the abluminal cell population. The gene fusion retained the kinase domain of BRAF, without the self-inhibitory CR1 domain, which is expected to lead to upregulation of BRAF protein. The patient had a complete resection of her tumor, without evidence of local recurrence or metastasis 10 months after diagnosis.

conclusionThese findings may represent a previously undescribed type of salivary gland tumor. However, additional reports of similar lesions are necessary for definitive characterization.

Indexed as

Adaptor Proteins, Signal TransducingCarcinomaDiscs Large Homolog 1 ProteinMembrane ProteinsProto-Oncogene Proteins B-rafSalivary Gland NeoplasmsTongue NeoplasmsAgedBiomarkers, TumorFemaleGene FusionHumansOncogene Proteins, FusionAdaptor Proteins, Signal TransducingBiomarkers, TumorBRAF protein, humanDiscs Large Homolog 1 ProteinDLG1 protein, humanMembrane ProteinsOncogene Proteins, FusionProto-Oncogene Proteins B-rafDLG1::BRAFGene fusionKinase fusionSalivary gland carcinoma NOS

Identifiers

PMID42262624
PMCPMC13250031

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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.