Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage.
(2001) Annals of hematology — Vol. 80, n° 5, p. 302-307 (2001)
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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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Jost, E., Michaux, L., Vanden Abeele, M., Boland, B., Latinne, D., Godfraind, C., Scheiff, J.-M., Vaerman, J.-P., Lecouvet, F., & Ferrant, A. (2001). Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage. Annals of hematology, 80(5), 302-307. https://doi.org/10.1007/s002770000271 (Original work published 2001)