Publications by authors named "P Martinek"

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
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Juxtaglomerular cell tumor (JxGCT) is a rare type of renal neoplasm demonstrating morphologic overlap with some mesenchymal tumors such as glomus tumor (GT) and solitary fibrous tumor (SFT). Its oncogenic drivers remain elusive, and only a few cases have been analyzed with modern molecular techniques. In prior studies, loss of chromosomes 9 and 11 appeared to be recurrent.

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This study provides a comprehensive proteomic and metabolomic analysis of novel anthocyanin- and carotenoid-rich wheat varieties to assess their immunogenicity in the context of Celiac Disease. Using (semi)-quantitative mass spectrometry, the research found that gliadin expression and peptide release, particularly those containing immunostimulatory γ-gliadin epitopes, vary significantly across different wheat varieties. While non-targeted mass spectrometry provided valuable insights, the study acknowledged potential methodological biases, such limitations of ion current intensity as a measure of peptide abundance.

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Article Synopsis
  • Succinate dehydrogenase-deficient renal cell carcinoma (SDH-deficient RCC) is a rare and aggressive subtype of kidney cancer mostly seen in younger patients, marked by mutations in SDHx genes, especially type B.
  • The tumors have unique histological characteristics, including eosinophilic cells in solid nests or microcysts that can trap normal kidney tubules.
  • In a study of three cases, all tumors showed a lack of SDHB expression and had pathogenic mutations, with two cases confirming the hereditary nature; diagnostic and treatment challenges arise due to overlapping features with other renal tumors.
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Malignant glomus tumors are rare tumors of pericytic origin with a propensity to develop in the upper gastrointestinal tract. Hereby we demonstrate a tumor of a 20-year-old man, who presented with dysphagia and an exophytic esophageal mass. Histologic examination of the resected mass revealed a multinodular tumor in the esophageal wall composed of epithelioid cells showing nesting and monomorphic atypia, staghorn vessels and scanty stroma.

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