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

Clicks: 319
ID: 112527
1970
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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.
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jost1970annalscomplex Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors E. Jost;L. Michaux;M. Vanden Abeele;B. Boland;D. Latinne;C. Godfraind;J. Scheiff;J. Vaerman;F. Lecouvet;A. Ferrant;E. Jost;L. Michaux;M. Vanden Abeele;B. Boland;D. Latinne;C. Godfraind;J. Scheiff;J. Vaerman;F. Lecouvet;A. Ferrant;
Journal Annals of hematology
Year 1970
DOI
doi:10.1007/s002770000271
URL
https://link.springer.com/article/10.1007/s002770000271
Keywords
oncology hematology

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