Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8.

We describe a case of acute monoblastic leukemia (AML M5a), originally presenting as granulocytic sarcoma of the testis, showing unusual cytogenetic abnormalities. Tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine karyotype analysis and by fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities were identified in the primary testicular lesion using interphase FISH. However, reverse transcriptase polymerase chain reaction (RT-PCR) did not reveal the presence of a classic PML/RAR alpha fusion transcript. To the best of our knowledge, this is the first case to be reported in the literature of AML showing tetrasomy 8 in combination with secondary t(15;17).