Evidence map›Paper›PMID 41201569›Full record

ArticleHead and neck pathology2025

Potential Diagnostic Pitfall in Pleomorphic Adenoma: A Case of Squamous and Mucinous Metaplasia with MALAT1::PLAG1 Fusion.

Scott Kuan-Wen Wang, Ronald N Araneta, Clinton A Kuwada, Krzysztof Glomski

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Article in Head and neck 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.

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5 · Who and what money

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4 authors.

Scott Kuan-Wen WangDepartment of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour St, Hartford, CT, 06106, USA. Kuan-Wen.Wang@hhchealth.org.
Ronald N AranetaDepartment of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour St, Hartford, CT, 06106, USA.
Clinton A KuwadaHartford Healthcare Cancer Institute, Hartford Hospital, Hartford, CT, USA.
Krzysztof GlomskiDepartment of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour St, Hartford, CT, 06106, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPleomorphic adenoma (PA) is the most common benign salivary gland tumor, yet its histologic diversity can resemble malignant neoplasms, posing diagnostic challenges. Molecular characterization, including fusion gene analysis, can aid in distinguishing these cases. CASE PRESENTATION: A 28-year-old male presented with a painless, well-circumscribed 2.5 cm left parotid mass. Imaging showed a lobulated lesion without lymphadenopathy. The patient underwent superficial parotidectomy. The resected mass was encapsulated and tan, with homogeneous consistency. Microscopic analysis revealed squamous and mucinous metaplasia within a typical pleomorphic adenoma background, initially raising concern for mucoepidermoid carcinoma. NGS identified a MALAT1::PLAG1 fusion, confirming the diagnosis of pleomorphic adenoma with squamous and mucinous metaplasia. The patient remains disease-free 21 months postoperatively. This represents only the second reported case of a MALAT1::PLAG1 fusion in pleomorphic adenoma.

conclusionThis case highlights a rare molecular subtype of pleomorphic adenoma associated with the MALAT1::PLAG1 fusion. The presence of this fusion may underlie metaplastic differentiation and mimic malignancy. Recognition of such molecular events is crucial for accurate diagnosis and underscores the importance of integrating histopathology with genomic profiling in salivary gland tumor evaluation.

Indexed as

Adenoma, PleomorphicDNA-Binding ProteinsParotid NeoplasmsRNA, Long NoncodingAdultDiagnosis, DifferentialHumansMaleMetaplasiaDNA-Binding ProteinsMALAT1 long non-coding RNA, humanPLAG1 protein, humanRNA, Long NoncodingMALAT1::PLAG1 fusionMucinous metaplasiaPleomorphic adenomaSquamous metaplasia

Identifiers

PMID41201569
PMCPMC12595183

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