title: KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.
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.
authors: 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.
authors: M
authors: M
authors: Arock
authors: Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.
authors: K
authors: K
authors: Sotlar
authors: Division of Allergy and Immunology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
authors: C
authors: C
authors: Akin
authors: Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors: S
authors: S
authors: Broesby-Olsen
authors: Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
authors: G
authors: G
authors: Hoermann
authors: Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC, CSIC/USAL), IBSAL and Department of Medicine, University of Salamanca, Salamanca, Spain.
authors: L
authors: L
authors: Escribano
authors: Department of Pathology, Odense University Hospital, Odense, Denmark.
authors: T K
authors: TK
authors: Kristensen
authors: Department of Hematology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: H C
authors: HC
authors: Kluin-Nelemans
authors: Clinical Hematology Department, Faculty of Medicine and AP-HP Necker-Enfants Malades, Paris Descartes University, Paris, France.
authors: O
authors: O
authors: Hermine
authors: 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.
authors: P
authors: P
authors: Dubreuil
authors: Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
authors: W R
authors: WR
authors: Sperr
authors: Department of Dermatology, University of Cologne, Cologne, Germany.
authors: K
authors: K
authors: Hartmann
authors: Stanford Cancer Institute, Stanford University School of Medicine, Stanford, MD, USA.
authors: J
authors: J
authors: Gotlib
authors: Wessex Regional Genetics Laboratory, Salisbury, and Faculty of Medicine, University of Southampton, Southampton, UK.
authors: N C P
authors: NC
authors: Cross
authors: Munich Leukemia Laboratory, Munich, Germany.
authors: T
authors: T
authors: Haferlach
authors: Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC, CSIC/USAL), IBSAL and Department of Medicine, University of Salamanca, Salamanca, Spain.
authors: A
authors: A
authors: Garcia-Montero
authors: Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC, CSIC/USAL), IBSAL and Department of Medicine, University of Salamanca, Salamanca, Spain.
authors: A
authors: A
authors: Orfao
authors: III, Medical Clinic, Hematology and Oncology, Medical University of Mannheim, Mannheim, Germany.
authors: J
authors: J
authors: Schwaab
authors: Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy.
authors: M
authors: M
authors: Triggiani
authors: Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.
authors: H-P
authors: HP
authors: Horny
authors: Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, MD, USA.
authors: D D
authors: DD
authors: Metcalfe
authors: III, Medical Clinic, Hematology and Oncology, Medical University of Mannheim, Mannheim, Germany.
authors: A
authors: A
authors: Reiter
authors: Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
authors: P
authors: P
authors: Valent
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis; D005060:Europe; D006801:Humans; D008407:Mast Cells / Q000473:pathology*; D008415:Mastocytosis; D009154:Mutation / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit
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