KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis
Top Cited Papers
- 4 February 2015
- journal article
- review article
- Published by Springer Science and Business Media LLC in Leukemia
- Vol. 29 (6), 1223-1232
- https://doi.org/10.1038/leu.2015.24
Abstract
Although acquired mutations in KIT are commonly detected in various categories of mastocytosis, the methodologies applied to detect and quantify the mutant type and allele burden in various cells and tissues are poorly defined. We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and during follow-up with sufficient precision and sensitivity in daily practice. In addition, we provide recommendations for sampling and storage of diagnostic material as well as a robust diagnostic algorithm. Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most patients with systemic mastocytosis (SM) that is a major step forward in screening and SM diagnosis. In addition, the KIT D816V allele burden can be followed quantitatively during the natural course or during therapy. Our recommendations should greatly facilitate diagnostic and follow-up investigations in SM in daily practice as well as in clinical trials. In addition, the new tools and algorithms proposed should lead to a more effective screen, early diagnosis of SM and help to avoid unnecessary referrals.Keywords
This publication has 98 references indexed in Scilit:
- European Competence Network on Mastocytosis (ECNM): 10-year jubilee, update, and future perspectivesWiener klinische Wochenschrift, 2012
- Mast Cell Leukaemia: c-KIT Mutations Are Not Always PositiveCase Reports in Hematology, 2012
- Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus ProposalInternational Archives of Allergy and Immunology, 2011
- Mutation D816V Alters the Internal Structure and Dynamics of c-KIT Receptor Cytoplasmic Region: Implications for Dimerization and Activation MechanismsPLoS Computational Biology, 2011
- Novel, activating KIT-N822I mutation in familial cutaneous mastocytosisExperimental Hematology, 2011
- Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR AssayThe Journal of Molecular Diagnostics, 2011
- A standardized framework for the validation and verification of clinical molecular genetic testsEuropean Journal of Human Genetics, 2010
- Mast cells and mastocytosisBlood, 2008
- Allele-Specific Polymerase Chain Reaction for the Imatinib-Resistant KIT D816V and D816F Mutations in Mastocytosis and Acute Myelogenous LeukemiaThe Journal of Molecular Diagnostics, 2006
- The European Competence Network on MastocytosisWiener klinische Wochenschrift, 2004