title: Circulating  KIT  D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis.
abstract: It is presently accepted that the KIT D816V mutation is detectable in tissues with neoplastic mast cells in most patients with indolent systemic mastocytosis. In this study, neoplastic mast cells were detected in bone marrow, but not in peripheral blood, by flow cytometry in all 25 included cases of indolent systemic mastocytosis. However, the KIT D816V mutation was detected using mutation-specific qPCR in both bone marrow and peripheral blood in all 25 cases, demonstrating for the first time that the KIT D816V mutation is consistently present in non-mast cells in indolent systemic mastocytosis and that these cells are circulating in peripheral blood.
authors.affiliation: Department of Pathology, Odense University Hospital, Odense, Denmark. thomas.kristensen@ouh.regionsyddanmark.dk
authors.forename: Thomas
authors.initials: T
authors.lastname: Kristensen
authors.forename: Sigurd
authors.initials: S
authors.lastname: Broesby-Olsen
authors.forename: Hanne
authors.initials: H
authors.lastname: Vestergaard
authors.forename: Carsten
authors.initials: C
authors.lastname: Bindslev-Jensen
authors.forename: Michael B
authors.initials: MB
authors.lastname: Møller
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D053645:Interleukin-2 Receptor alpha Subunit / Q000378:metabolism; D008297:Male; D008407:Mast Cells / Q000378:metabolism* / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009360:Neoplastic Cells, Circulating / Q000378:metabolism*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D055815:Young Adult
chemical_list: D053645:Interleukin-2 Receptor alpha Subunit; D019009:Proto-Oncogene Proteins c-kit