Publications by authors named "J Kumbrink"
Skin cancer is one of the most prevalent malignancies in the world, with increasing incidence. In 2022, the World Health Organization estimated over 1.5 million new diagnoses of skin malignancies, primarily affecting the older population.
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- 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.
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- Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
- A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
- The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
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- Immune checkpoint inhibitors can cause immune-related lichenoid skin reactions (irLP) that are often hard to treat, and this study aims to compare these reactions to spontaneous lichen planus (LP).
- The research found that irLP and LP have different clinical and histological characteristics, with irLP showing a more widespread rash and a unique inflammatory gene profile, indicating different underlying mechanisms.
- The results suggest that topical JAK inhibitors might be a promising treatment for irLP due to its distinct inflammatory signature, although further studies with larger groups are needed for confirmation.
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- Many lung cancer patients are not receiving comprehensive genetic testing, limiting treatment options and understanding of their disease.
- A study analyzed next-generation sequencing from 154 lung cancer patients, revealing that about 70% had detectable mutations, with variations in mutation types between adenocarcinoma and squamous cell carcinoma.
- The findings suggest that mutation profiles vary by cancer type and metastatic status, which could help guide prioritization for genetic testing in resource-limited situations.