Mastocytosis is a term used for a spectrum of disorders characterized
by abnormal growth and accumulation of mast cells. The cutaneous varia
nts of the disease have to be distinguished from systemic mastocytosis
(SM), in which at least one extracutaneous organ is involved. In cont
rast to cutaneous mastocytosis, SM is often associated with another he
matologic neoplasm. In most cases clonal myeloid malignancies such as
a myeloproliferative or myelodysplastic syndrome occur. In a few cases
of SM, however, clonal lymphoid disorders have been described. We her
e report on a case of SM associated with multiple myeloma, At first pr
esentation, the 48-year old female patient showed monoclonal IgG lambd
a gammopathy and bone marrow (BM) mastocytosis, but no BM plasma cell
infiltrates. Eight years later, the patient presented with BM mastocyt
osis and overt multiple myeloma. The co-existence of myeloma and masto
cytosis was demonstrable by staining serial BM sections with antibodie
s against mast cell tryptase, CD68R, and the plasma cell marker VS38c.
Interphase FISH analysis of BM sections revealed a numeric gain of ch
romosome 5 and chromosome 7 in the plasma cells but not in the mast ce
ll infiltrates, thereby confirming the presence of two different neopl
astic cell populations. To our knowledge, this is the first report des
cribing the co-existence of multiple myeloma and mastocytosis.