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Head and Neck Pathology

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01.12.2024 | Case Report

Pleomorphic Adenoma with a Novel Gene Rearrangement—LINC01606::PLAG1

verfasst von: Udit Naik, Sara E. Amin, Mahmoud Elsayad, Karan Saluja

Erschienen in: Head and Neck Pathology | Ausgabe 1/2024

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Abstract

Background

Pleomorphic adenoma is a well-known benign salivary gland neoplasm characterized by the presence of varying proportions of three different components, including bi-layered ducts, myoepithelial cells, and admixed within a chondromyxoid/fibrous stroma.

Method

We report an interesting case of an adult male who presented with bleeding from an extensively degenerated parotid gland mass, concerning for a vascular neoplasm versus primary malignant tumor. Microscopically, majority of the viable tumor exhibited diffuse proliferation of spindle to epithelioid cells, with focal areas depicting cribriform glands, ducts, and scant chondromyxoid stroma.

Result

Next-generation sequencing (NGS) RNA-based fusion panel analysis identified a gene rearrangement involving the pleomorphic adenoma gene 1 (PLAG1), with a novel, cryptogenic fusion partner known as LINC01606; [LINC01606::PLAG1; inv(8;8)(8q12.1;8q12.1)].

Conclusion

To the best of our knowledge, this is the first documented case of a long non-coding RNA (lnc-RNA) serving as a rearrangement partner with the PLAG1 gene. We reviewed the molecular characteristics of this entity and explored the potential role of LINC01606::PLAG1 in the tumorigenesis of pleomorphic adenoma.

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Titel: Pleomorphic Adenoma with a Novel Gene Rearrangement—LINC01606::PLAG1
verfasst von: Udit Naik
Sara E. Amin
Mahmoud Elsayad
Karan Saluja
Publikationsdatum: 01.12.2024
Verlag: Springer US
Erschienen in: Head and Neck Pathology / Ausgabe 1/2024
Elektronische ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-024-01612-x

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Pleomorphic Adenoma with a Novel Gene Rearrangement—LINC01606::PLAG1

Abstract

Background

Method

Result

Conclusion

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Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

Background

Method

Result

Conclusion

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