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A new c‐ kit mutation in a case of aggressive mast cell disease
Author(s) -
PIG JEANMICHEL,
GIRAUDIER STÉPHANE,
DUQUESNOY PHILLIPPE,
JOUAULT HÉLÈNE,
IMBERT MICHÈLE,
VAINCHENKER WILLIAM,
VERNANT JEANPAUL,
TULLIEZ MICHEL
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.d01-2042.x
Subject(s) - mast cell , biology , mutation , cancer research , cell , bone marrow , immunology , genetics , gene
Systemic mast cell disease (SMCD) is a disorder characterized by a mast cell proliferation in various tissues. Mast cells express the c ‐kit proto‐oncogene. A few cases of c ‐kit mutations have been described in SMCD. We report an aggressive SMCD in a patient who presented with a bone marrow infiltration by abnormal mast cells. Molecular studies of mast cell DNA and RNA revealed a new c‐ kit heterozygous mutation (Asp820Gly). This mutation leads to a drastic amino‐acid change and is located close to the highly oncogenic Asp816Val. These findings suggest that the Asp820Gly has a potential role in c‐ kit activation.