Publications by authors named "P M Berthon"
Transfusion-dependent β-thalassaemia (TDβT) is a genetic disorder characterised by reduced or absent β-globin chain synthesis, resulting in chronic anaemia. Treatment consists of regular blood transfusions and chelation therapy to limit iron overload and its negative effects on organs (e.g.
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- - Merkel cell carcinoma (MCC) is often linked to the Merkel cell polyomavirus (MCPyV), particularly when the virus integrates into the host's DNA and leads to mutations in the Large T antigen (LT), which is essential for the virus's cancer-causing properties.
- - In recent cases involving MCC combined with skin tumors called trichoblastoma and poroma, researchers found evidence of MCC developing from epithelial cells and identified both mutated and wild-type LT sequences.
- - The findings indicate that some MCC cases may contain intact MCPyV genomes and express certain viral proteins, suggesting a more complex interaction between the virus and cancer than previously understood.
Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma (DPA). The main objectives of the present study were (i) to provide an overview of the prevalence of previously identified oncogenic drivers in acral sweat gland tumors and (ii) to genetically characterize tumors in which no recurrent genetic alteration has been identified yet.
View Article and Find Full Text PDFDigital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main oncogenic driver of DPA. Herein, we report 5 tumors arising in extra-acral locations predominantly in the female anogenital skin.
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