A 29-year-old man with alveolar rhabdomyosarcoma was considered to be suffe
ring from acute leukemia. A bone marrow aspirate had revealed extensive inf
iltration by atypical blast-like cells which were interpreted as acute lymp
hoblastic leukemia. Although there was no confirmation of this diagnosis by
immunophenotyping chemotherapy with a protocol suited for the treatment of
acute lymphoblastic leukemia was started prior to histological analysis an
d resulted in a complete temporary remission after the first cycle, Histolo
gical analysis of a bone marrow biopsy revealed an alveolar rhabdomyosarcom
a, as further confirmed by molecular genetic analysis. Two months after the
end of chemotherapy, there was an extensive recurrence and the patient die
d one year after initial diagnosis with chemotherapy refractory disease. In
conclusion, rhabdomyosarcoma should always be included in the differential
diagnosis of systemic diseases with extensive bone marrow infiltration by
tumor cells which could otherwise be misinterpreted as a haematological mal
ignancy.