title: Systemic mastocytosis (SM) and associated malignant bone marrow histiocytosis - a hitherto undescribed form of SM-AHNMD.
abstract: An elderly woman presented with anaemia, thrombocytopenia and multifocal lytic and sclerotic bone lesions. Trephine bone marrow biopsy demonstrated widespread involvement by systemic mastocytosis (SM). The neoplastic mast cells expressed mast cell tryptase, CD117, CD25 and CD9, and were accompanied by compact sheets of atypical large histiocytic cells, expressing CD68, CD4, S-100 protein and CD14, in keeping with a concomitant histiocytosis (SM-AHNMD). Mutation analysis revealed the activating point mutation D816V of the c-kit proto-oncogene in microdissected pooled bone marrow mast cells. Partial remission was achieved using interferon alpha. To the best of our knowledge this is the first reported case of SM-AHNMD with histiocytosis as the non-mast cell component.
authors.affiliation: Department of Histopathology, Birmingham Heartlands Hospital, Birmingham, UK. zbigniew.rudzki@heartofengland.nhs.uk
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Rudzki
authors.forename: Karl
authors.initials: K
authors.lastname: Sotlar
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kudela
authors.forename: Jolanta
authors.initials: J
authors.lastname: Starzak-Gwóźdź
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Horny
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D019046:Bone Marrow Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D054747:Histiocytic Sarcoma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D007155:Immunologic Factors / Q000627:therapeutic use; D016898:Interferon-alpha / Q000627:therapeutic use; D034721:Mastocytosis, Systemic / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D007155:Immunologic Factors; D016898:Interferon-alpha; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit