Version 1
: Received: 29 August 2024 / Approved: 30 August 2024 / Online: 30 August 2024 (15:44:52 CEST)
How to cite:
Cilloni, D.; Maffeo, B.; Savi, A.; Danzero, A. C.; Bonuomo, V.; Fava, C. Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why. Preprints2024, 2024082240. https://doi.org/10.20944/preprints202408.2240.v1
Cilloni, D.; Maffeo, B.; Savi, A.; Danzero, A. C.; Bonuomo, V.; Fava, C. Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why. Preprints 2024, 2024082240. https://doi.org/10.20944/preprints202408.2240.v1
Cilloni, D.; Maffeo, B.; Savi, A.; Danzero, A. C.; Bonuomo, V.; Fava, C. Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why. Preprints2024, 2024082240. https://doi.org/10.20944/preprints202408.2240.v1
APA Style
Cilloni, D., Maffeo, B., Savi, A., Danzero, A. C., Bonuomo, V., & Fava, C. (2024). Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why. Preprints. https://doi.org/10.20944/preprints202408.2240.v1
Chicago/Turabian Style
Cilloni, D., Valentina Bonuomo and Carmen Fava. 2024 "Detection of C-KIT Mutations in Systemic Mastocytosis: How, When and Why" Preprints. https://doi.org/10.20944/preprints202408.2240.v1
Abstract
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 (VAF), well below the sensitivity of common next-generation sequencing (NGS) methods used in routine diagnostic panels. Highly sensitive methods are developing for detecting mutations. This review summarizes the current indications on the recommended methods and on how to manage and interpret molecular data for the diagnosis and follow-up of patients with mastocytosis.
Keywords
c-KIT; gene mutations; Systemic Mastocytosis; digital PCR
Subject
Biology and Life Sciences, Life Sciences
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
