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Leukemia. 2015 Jun;29(6):1223-32. doi: 10.1038/leu.2015.24. Epub 2015 Feb 4.

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Author information

1
1] Molecular Oncology and Pharmacology, LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, Cachan, France [2] Laboratory of Hematology, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
2
Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.
3
Division of Allergy and Immunology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
4
Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
5
Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
6
Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC, CSIC/USAL), IBSAL and Department of Medicine, University of Salamanca, Salamanca, Spain.
7
Department of Pathology, Odense University Hospital, Odense, Denmark.
8
Department of Hematology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
9
Clinical Hematology Department, Faculty of Medicine and AP-HP Necker-Enfants Malades, Paris Descartes University, Paris, France.
10
1] Signaling, Hematopoiesis and Mechanism of Oncogenesis, Inserm U1068, CRCM, Marseille, France [2] Institut Paoli-Calmettes, Marseille, France [3] Aix-Marseille University, UM 105, Marseille, France [4] CNRS, UMR7258, CRCM, Marseille, France.
11
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
12
Department of Dermatology, University of Cologne, Cologne, Germany.
13
Stanford Cancer Institute, Stanford University School of Medicine, Stanford, MD, USA.
14
Wessex Regional Genetics Laboratory, Salisbury, and Faculty of Medicine, University of Southampton, Southampton, UK.
15
Munich Leukemia Laboratory, Munich, Germany.
16
III, Medical Clinic, Hematology and Oncology, Medical University of Mannheim, Mannheim, Germany.
17
Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy.
18
Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, MD, USA.

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.

PMID:
25650093
PMCID:
PMC4522520
DOI:
10.1038/leu.2015.24
[Indexed for MEDLINE]
Free PMC Article

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