Background: The detection rate of oncogenic human papillomaviruses (HPVs) in sinonasal squamous cell carcinomas (SNSCCs) varies among studies. The mutational landscape of SNSCCs remains poorly investigated.
Methods: We investigated the prevalence and prognostic significance of HPV infections based on p16 protein expression, HPV-DNA detection, and E6/E7 mRNA expression using immunohistochemistry, polymerase chain reaction, and in situ hybridization, respectively. In addition, we evaluated the genetic mutations in 59 patients using next-generation sequencing.
Results: One-third of the SNSCCs were truly oncogenic HPV-driven tumors associated with a nonkeratinizing morphology (p = 0.01) and did not correlate with the prognosis. The following gene mutations were detected: TP53, PIK3CA, CDKN2A, EGFR, and FGFR3. These mutations occurred alone, in association with, or with oncogenic HPV.
Conclusion: One-third of SNSCCs were high-risk HPV driven lesions. However, gene mutations and HR-HPV infections are not mutually exclusive. Further studies are required to analyze the prognostic value of these associations.
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http://dx.doi.org/10.1002/hed.28084 | DOI Listing |
Plant Cell Physiol
January 2025
Institute for Chemical Research, Kyoto University, Gokasho, Uji, 611-0011 Kyoto, Japan.
Lotus japonicus-ROOT HAIR LESS1-LIKE1 (LRL1) of Arabidopsis thaliana encodes a basic helix-loop-helix (bHLH) transcription factor (TF) involved in root hair development. Root hair development is regulated by an elaborate transcriptional network, in which GLABRA2 (GL2), a key negative regulator, directly represses bHLH TF genes, including LRL1 and ROOT HAIR DEFECTIVE6 (RHD6). Although RHD6 and its paralogous TFs have been shown to connect downstream to genes involved in cell morphological events such as endomembrane and cell wall modification, the network downstream of LRL1 remains elusive.
View Article and Find Full Text PDFClin Cancer Res
January 2025
Massachusetts General Hospital Cancer Center, Boston, MA, United States.
Background: Race/ethnicity may affect outcomes in metastatic breast cancer (MBC) due to biological and social determinants. We evaluated the impact of race/ethnicity on clinical, socioeconomic, and genomic characteristics, clinical trial participation, and receipt of genotype-matched therapy among patients with MBC.
Methods: A retrospective study of patients with MBC who underwent cell-free DNA testing (cfDNA, Guardant360â, 74 gene panel) between 11/2016 and 11/2020 was conducted.
Curr Cardiol Rep
January 2025
Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Purpose Of Review: This review aims to explore how a diagnosis of LMNA-related cardiomyopathy (LMNA-CM) informs clinical management, focusing on the prevention and management of its complications, through practical clinical strategies.
Recent Findings: Longitudinal studies have enhanced our understanding of the natural history of LMNA-CM including its arrhythmic and non-arrhythmic complications. A LMNA specific ventricular arrhythmia risk prediction strategy has been integrated into clinical practice guidelines.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
University Medical Center Hamburg-Eppendorf, University Children's Hospital, Martinistrasse 52, Hamburg, 20246, Germany.
Background: Primary hyperoxaluria type 1 (PH 1) is a rare genetic condition due to mutations in the AGXT gene. This leads to an overproduction of oxalate in the liver. Hyperoxaluria often causes kidney stones, nephrocalcinosis, and chronic kidney disease.
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