title: Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease.
abstract: Patients with systemic mastocytosis (SM) may acquire an associated hematologic non-mast cell (MC)-lineage disease (AHNMD). In most cases, a myeloid neoplasm is diagnosed, whereas the occurrence of a lymphoproliferative disease is an extremely rare event. We report on a patient with indolent SM associated with small lymphocytic lymphoma (SLL). The patient presented with lymphadenopathy, maculopapular exanthema, and elevated serum tryptase. The bone marrow biopsy showed focal MC aggregates together with SLL. As assessed by immunostaining, neoplastic MC were found to exhibit CD117 and CD25 but did not display CD5 or CD20, whereas SLL cells were found to coexpress CD5 and CD20 but did not express MC antigens. The KIT mutation D816V was detected in sorted CD34(+) cells and unfractionated marrow cells but not in CD5(+) SLL cells, confirming the coexistence of 2 distinct neoplasms.
authors.affiliation: Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, 1090 Vienna, Austria.
authors.forename: Alexander W
authors.initials: AW
authors.lastname: Hauswirth
authors.forename: Manuela
authors.initials: M
authors.lastname: Födinger
authors.forename: Marika
authors.initials: M
authors.lastname: Fritz
authors.forename: Leonhard
authors.initials: L
authors.lastname: Müllauer
authors.forename: Ingrid
authors.initials: I
authors.lastname: Simonitsch-Klupp
authors.forename: Berthold
authors.initials: B
authors.lastname: Streubel
authors.forename: Andreas
authors.initials: A
authors.lastname: Chott
authors.forename: Wolfgang R
authors.initials: WR
authors.lastname: Sperr
authors.forename: Ulrich
authors.initials: U
authors.lastname: Jäger
authors.forename: Peter
authors.initials: P
authors.lastname: Valent
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000378:metabolism; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005434:Flow Cytometry; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D034721:Mastocytosis, Systemic / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D019009:Proto-Oncogene Proteins c-kit