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Genetic Changes in Mastocytes and Their Significance in Mast Cell Tumor Prognosis and Treatment. | LitMetric

AI Article Synopsis

  • - Mast cell tumors, such as mastocytoma (MCT) and systemic mastocytosis (SM), are diseases found in various species, including dogs, cats, and humans, with specific genetic mutations commonly identified.
  • - In humans, 80% of mastocytosis cases exhibit the p.D816H gene mutation, while about 25% of MCT cases can metastasize, with overexpression of certain genes promoting this process.
  • - Research indicates that a specific gene panel can effectively differentiate between healthy dogs and those affected by MCT, highlighting the potential for advancements in diagnosis and treatment based on understanding mast cell biology.

Article Abstract

Mast cell tumors are a large group of diseases occurring in dogs, cats, mice, as well as in humans. Systemic mastocytosis (SM) is a disease involving the accumulation of mast cells in organs. gene mutations are very often seen in abnormal mast cells. In SM, high KIT/CD117 expression is observed; however, there are usually no gene mutations present. Mastocytoma (MCT)-a form of cutaneous neoplasm-is common in animals but quite rare in humans. KIT/CD117 receptor mutations were studied as the typical changes for human mastocytosis. In 80% of human cases, the gene substitution p.D816H was present. In about 25% of MCTs, metastasis was observed. Changes in the gene expression of certain genes, such as overexpression of the gene, promote metastasis. In contrast, the gene blocks the expression of metastasis genes. The panel of , , and has a good efficiency in discriminating healthy and MCT-affected dogs, as well as MCT-affected dogs with and without nodal metastasis. Further studies on the pathobiology of mast cells can lead to clinical improvements, such as better MCT diagnosis and treatment. Our paper reviews studies on the topic of mast cells, which have been carried out over the past few years.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10815783PMC
http://dx.doi.org/10.3390/genes15010137DOI Listing

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