Publications by authors named "M J Arends"
Virtual microscopy is becoming increasingly common in both medical education and routine clinical practice. Virtual microscopy software is typically designed either for (1) training students in anatomy, histology, and histopathology, or (2) quantitative analysis-but not both simultaneously. QuPath is one of the most widely used software applications for histopathology image analysis in research and provides a comprehensive set of computational tools to evaluate histology slides.
View Article and Find Full Text PDFExploration of the mutational landscape of cutaneous leiomyoma confirms FH as a driver gene and identifies targeting purine metabolism as a potential therapeutic strategy.
Br J Dermatol
November 2024
Acral melanoma, which is not ultraviolet (UV)-associated, is the most common type of melanoma in several low- and middle-income countries including Mexico. Latin American samples are significantly underrepresented in global cancer genomics studies, which directly affects patients in these regions as it is known that cancer risk and incidence may be influenced by ancestry and environmental exposures. To address this, here we characterise the genome and transcriptome of 128 acral melanoma tumours from 96 Mexican patients, a population notable because of its genetic admixture.
View Article and Find Full Text PDFArticle Synopsis
- Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
- This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
- Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.