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Updated: Jul 19, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Hyalinising clear cell carcinoma with a novel fusion gene: Insights into the diagnosis
Maria F Gonzalez1, Israh Akhtar1
1Temple University Hospital and Lewis Katz School of Medicine, Philadelphia, Pennsylvania, USA.
Abstract:
Hyalinising clear cell carcinoma (HCCC) is a rare salivary gland neoplasm characterised by an EWSR1::ATF1 fusion. Rare cases showing EWSR1::CREB1 rearrangements have been reported. This article presents a case of HCCC with a novel EWSR1-CREB1 fusion, diffuse eosinophilic appearance, novel cytomorphological findings, PAS-negativity, and late regional and distant lymph node metastases.
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