Publications by authors named "S Ihrler"
Article Synopsis
- Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
- Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
- Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3-related neoplasms are rare in the head and neck and may pose diagnostic challenges.
View Article and Find Full Text PDFBasal cell carcinoma is the most common malignant tumor in the fair-skinned population and its incidence continues to rise. An update of the S2k guideline with the participation of all specialist societies familiar with the clinical picture and previous literature research is of great importance for the quality of care for affected patients. In addition to epidemiology, diagnostics and histology are discussed.
View Article and Find Full Text PDFSclerosing mucoepidermoid carcinoma (SMEC) of the salivary glands is a rare variant of low-grade mucoepidermoid carcinoma with scanty cellular atypia characterized by marked fibrosis/sclerosis and a rich inflammatory infiltrate. Herein, we report 25 unpublished cases of SMEC, two of them with prominent eosinophilia (2/25; 8%) and three with abundant IgG4-positive plasma cells (3/25; 12%). In our series of salivary SMEC, molecular analysis using fluorescence in situ hybridization (FISH) and/or next-generation sequencing (NGS) provided evidence of MAML2 gene rearrangement in 18 cases of the 21 analyzable cases tested (86%), while this gene locus was intact in 3 cases (14%).
View Article and Find Full Text PDFArticle Synopsis
- Tumors of salivary glands vary widely and can overlap, making them challenging to diagnose, despite advances in molecular testing.
- A study examined 363 cases of 20 different salivary gland tumors and found distinct DNA methylation patterns that help classify these tumors, achieving high accuracy with a machine learning algorithm.
- The research identified specific epigenetic signatures, distinguishing certain tumor types, and suggested that DNA methylation could aid in diagnosing and potentially uncovering new tumor classes in the future.