Purpose: We report a 5-year-old boy with stage 4 neuroblastoma initial
ly diagnosed as having acute monoblastic leukemia (FAB M5A, AMoL), bas
ed on bone marrow morphology, histochemistry, immunocytochemistry, imm
unophenotyping, and cytogenetics, all consistent with AMoL. The patien
t also had circulating blasts at diagnosis. After failing initial ther
apy for AMoL and because of concerns about residual blasts with a clum
ped appearance in the bone marrow, urinary homovanillic acid (HVA) and
vanillylmandelic acid (VMA) and N-myc amplification in tumor cells we
re evaluated and found to be positive, resulting in the diagnosis of n
euroblastoma. Abdominal computerized tomography showed a left adrenal
mass. A review of 10 reported cases of neuroblastoma with leukemic fea
tures showed that seven of them were misdiagnosed as having leukemia,
and in six of the seven, the diagnosis of neuroblastoma was made postm
ortem. Conclusion: Neuroblastoma may be confused with acute leukemia,
even with the use of modern techniques.