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

We describe a case of acute monoblastic leukemia (AML M5a), originally pres enting as granulocytic sarcoma of the testis, showing unusual cytogenetic a bnormalities. Tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine kary otype analysis and bt fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities w ere identified in the primary testicular lesion using interphase FISH. Howe ver, reverse transcriptase polymerase chain reaction (RT-PCR) did not revea l 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). (C) Elsevie r Science Inc., 1999. All rights reserved.