A case of smouldering mastocytosis with peripheral blood eosinophilia and lymphadenopathy.
Systemic mastocytosis (SM) is a clonal hematologic disease showing abnormal growth and accumulation of mast cells (MC) in visceral organs with or without skin involvement. The clinical course in SM is variable. In fact, indolent and aggressive variants have been described. In addition, SM patients may acquire an associated hematologic clonal non-MC lineage disease (AHNMD). In some cases, hematologic parameters are indicative of slowly progressing SM although the clinical course remains indolent over years. These cases have been referred to as smouldering SM. We report on a smouldering patient presenting with typical skin lesions, hypercellular marrow with focal MC aggregates, persistent leukocytosis (20,000-30,000/microl) with eosinophilia (5-10%), marked lymphadenopathy, and splenomegaly. The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. The clinical picture remained stable during an observation period of 10 years without signs of progression to an AHNMD or a high grade MC disease. These data show that some patients with SM can remain in a clinically indolent smouldering state over years even when presenting with marked eosinophilia and lymphadenopathy.
Hauswirth
Alexander W
AW
Department of Internal Medicine I, Division of Hematology and Hemostaseology, University of Vienna, Vienna, Austria.
Sperr
Wolfgang R
WR
Ghannadan
Minoo
M
Schernthaner
Gerit Holger
GH
Jordan
John Hendrik
JH
Fritsche-Polanz
Robert
R
Simonitsch-Klupp
Ingrid
I
Födinger
Manuela
M
Lechner
Klaus
K
Valent
Peter
P
D000328:Adult; D001853:Bone Marrow / Q000276:immunology / Q000473:pathology; D004252:DNA Mutational Analysis; D004802:Eosinophilia / Q000209:etiology*; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D008206:Lymphatic Diseases / Q000209:etiology*; D008415:Mastocytosis / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics
D019009:Proto-Oncogene Proteins c-kit