Deletion of MYC and presence of double minutes with MYC amplification in a morphologic acute promyelocytic leukemia–like case lacking RARA rearrangement: could early exclusion of double-minute chromosomes be a prognostic factor?

• Published in: Cancer genetics and cytogenetics Vol. 166; no. 2; pp. 139 - 145
• Main Authors: Frater, John L., Hoover, Richard G., Bernreuter, Kristen, Batanian, Jacqueline R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.04.2006
• Subjects: Adult; Aged; Aged, 80 and over; Child; Chromosomes, Human, Pair 8 - genetics; Gene Amplification - genetics; Gene Deletion; Gene Rearrangement - genetics; Genes, myc - genetics; Humans; Leukemia, Promyelocytic, Acute - diagnosis; Leukemia, Promyelocytic, Acute - genetics; Male; Metaphase; Middle Aged; Oncogene Proteins, Fusion; Prognosis; Receptors, Retinoic Acid - genetics; Retinoic Acid Receptor alpha
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2005.10.013

Gene amplification on double minutes is rarely found in acute myeloid leukemia (AML) and is often linked to poor prognosis. It is often associated with acute myeloid leukemia with differentiation (AML-M2) and is rarely reported in acute promyelocytic leukemia (APL), which is characterized in the vast majority of cases by the reciprocal t(15;17)(q22;q21) with resultant translation of an abnormal PML-RARA fusion protein. Most of the rare cases of APL that lack this translocation have a demonstrable RARA breakpoint. We report on a morphologic APL-like case lacking t(15;17) and the RARA breakpoint and also has the deletion MYC of 8q24 associated with the occurrence of MYC amplification on double-minute chromosomes (dmin). Excessive exclusion of dmin was observed at the initial diagnosis. These findings are compared to the few cases previously reported in the literature.