title: Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage.
abstract: Aggressive mastocytosis is a form of systemic mast cell disease (SMCD) characterized by organ infiltration, bone lesions. eosinophilia and lymphadenopathies. Here we report a patient with unusual clinical features, namely osteolysis without other bone lesions commonly found in SMCD, major eosinophilia and cerebral infarction. The mast cells exhibited a classical immunophenotype (CD2+, CD9+, CD13+, CD25+, CD35+, CD45c+ and CD117+). Cytogenetic investigation showed novel complex aberrations, and clonal evolution was correlated with clinical progression. The screening for recurrent point mutations affecting the c-kit gene was negative. Mainly, the ASP816VAL substitution was not detected in our patient. Treatment with steroids and interferon was only temporarily effective.
authors.affiliation: Department of Hematology, Université Catholique de Louvain, Bruxelles, Belgium. Edgar.Jost@sang.ucl.ac.be
authors.forename: E
authors.initials: E
authors.lastname: Jost
authors.forename: L
authors.initials: L
authors.lastname: Michaux
authors.forename: M
authors.initials: M
authors.lastname: Vanden Abeele
authors.forename: B
authors.initials: B
authors.lastname: Boland
authors.forename: D
authors.initials: D
authors.lastname: Latinne
authors.forename: C
authors.initials: C
authors.lastname: Godfraind
authors.forename: J M
authors.initials: JM
authors.lastname: Scheiff
authors.forename: J L
authors.initials: JL
authors.lastname: Vaerman
authors.forename: F
authors.initials: F
authors.lastname: Lecouvet
authors.forename: A
authors.initials: A
authors.lastname: Ferrant
mesh_terms: D000368:Aged; D003937:Diagnosis, Differential; D004802:Eosinophilia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D002534:Hypoxia, Brain / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D008415:Mastocytosis / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010014:Osteolysis / Q000175:diagnosis* / Q000235:genetics*; D010384:Pelvic Bones; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit