Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage

Ann Hematol. 2001 May;80(5):302-7. doi: 10.1007/s002770000271.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Diagnosis, Differential
  • Eosinophilia / diagnosis*
  • Eosinophilia / genetics*
  • Female
  • Humans
  • Hypoxia, Brain / diagnosis*
  • Hypoxia, Brain / genetics*
  • Karyotyping
  • Mastocytosis / diagnosis*
  • Mastocytosis / genetics*
  • Mutation
  • Osteolysis / diagnosis*
  • Osteolysis / genetics*
  • Pelvic Bones*
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • Proto-Oncogene Proteins c-kit