Faculty, Staff and Student Publications
Language
English
Publication Date
2-23-2024
Journal
Head and Neck Pathology
DOI
10.1007/s12105-024-01612-x
PMID
38393488
PMCID
PMC10891012
PubMedCentral® Posted Date
2-23-2024
PubMedCentral® Full Text Version
Post-print
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.
Keywords
Adult, Male, Humans, Adenoma, Pleomorphic, DNA-Binding Proteins, Salivary Gland Neoplasms, Gene Rearrangement, RNA, Pleomorphic adenoma, PLAG1, Gene rearrangement, LINC01606
Published Open-Access
yes
Recommended Citation
Naik, Udit; Amin, Sara E; Elsayad, Mahmoud; et al., "Pleomorphic Adenoma with a Novel Gene Rearrangement-LINC01606::PLAG1" (2024). Faculty, Staff and Student Publications. 4086.
https://digitalcommons.library.tmc.edu/uthmed_docs/4086