Scientists have discovered that a genetic variant called KIT M541L may play an important role in a rare immune disorder known as #mastocytosis. The findings may help explain why some #patients develop more severe forms of the disease.

Understanding Mastocytosis

Mastocytosis is a condition where the body produces too many mast cells. These cells are part of the immune system and help the body fight infections, but in excess, they release chemicals that can cause itching, swelling, and even serious organ damage.

There are two main types of mastocytosis. The first is cutaneous mastocytosis, which mostly affects the skin. The second is systemic mastocytosis, a more serious form where mast cells build up in internal organs like the liver, spleen, and bone marrow.

The disease is linked to mutations in the KIT gene, which regulates mast cell growth. The most studied mutation is KIT D816V, but recent research has highlighted another variant, KIT M541L.

The Study: Impact of KIT M541L Variant

A team of researchers at the National Institutes of Health (NIH), led by first author Luisa N. Dominguez Aldama and corresponding author Melody C. Carter, aimed to better understand the prevalence and impact of the KIT M541L genetic variant in mastocytosis patients. The study published in Oncotarget on July 22, 2024, titled “Prevalence and impact of the KIT M541L variant in patients with mastocytosis,” examined the presence of the KIT M541L gene variant in 100 patients with mastocytosis, both adults and children, alongside 500 healthy individuals. 

By comparing these two groups, the researchers wanted to see if there was a relation between the KIT M541L variant and mastocytosis severity.

Full blog - https://www.oncotarget.org/2025/01/15/mastocytosis-key-insights-into-kit-m541l-gene-mutation/

Paper DOI - https://doi.org/10.18632/oncotarget.28614

Correspondence to - Melody C. Carter - mcarter@niaid.nih.gov

Video short - https://www.youtube.com/watch?v=zpiBbSfkTX4

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Keywords - cancer, mastocytosis, KIT M541L, KIT D816V, adults, pediatrics

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Oncotarget

Mastocytosis: Key Insights into KIT M541L Gene Mutation

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Mastocytosis: Key Insights into KIT M541L Gene Mutation

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