Article

Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why

2024-08-30

Abstract excerpt

More than 90% of patients affected by mastocytosis are characterized by a somatic point mutation of c-KIT, which induces ligand-independent activation of the receptor and downstream signal triggering, ultimately leading to mast cell proliferation and survival. The most frequent mutation is c-KIT p.D816V, but other rarer mutations can also be found. These mutations often have a very low variant allele frequency (VA...

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Literature Corpus work: f22a50d4-9dc1-5fd4-b7a0-a0492495969e
DOI: 10.20944/preprints202408.2240.v1

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