Publications by authors named "Pauline Durdilly"
Article Synopsis
- The study focuses on the identification of specific gene fusions in salivary gland and sinonasal tumors, enhancing understanding of their molecular pathology and classification.
- A new multiplexed next-generation sequencing (NGS) method was developed to detect oncogenic fusion transcripts involving 116 genes, showing high sensitivity and specificity in analyzing 180 tumor samples.
- The results indicate that this NGS-based method is effective for diagnosing these tumors and can be adapted for future genetic discoveries, potentially improving patient treatment options.
Hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland carcinoma with a generally indolent behavior, characterized by recurrent chromosomal translocation involving EWSR1 (22q12.2) leading to two fusion genes EWSR1::ATF1 or EWSR1::CREM. We report one case of HCCC with a novel SMARCA2::CREM fusion, identified by targeted RNA next generation sequencing by LD-RT-PCR, which has until now never been described in salivary glands.
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