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

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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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Data Availability

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX, 77030, USA

    Udit Naik, Sara E. Amin, Mahmoud Elsayad & Karan Saluja

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  1. Udit Naik
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  2. Sara E. Amin
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  3. Mahmoud Elsayad
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Contributions

Udit Naik contributed to writing of the manuscript and data collection; Sara E Amin contributed to reviewing and editing of the manuscript and photo collection; Mahmoud Elsayad contributed to reviewing and editing of the manuscript; Karan Saluja contributed to conceptualization and reviewing and editing of the manuscript.

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Correspondence to Karan Saluja.

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Naik, U., Amin, S.E., Elsayad, M. et al. Pleomorphic Adenoma with a Novel Gene Rearrangement—LINC01606::PLAG1. Head and Neck Pathol 18, 10 (2024). https://doi.org/10.1007/s12105-024-01612-x

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