Frater John L, Hoover Richard G, Bernreuter Kristen, Batanian Jacqueline R
Department of Pathology, Saint Louis University School of Medicine, Health Sciences Center, MO 63104-1095, USA.
Cancer Genet Cytogenet. 2006 Apr 15;166(2):139-45. 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.
双微体上的基因扩增在急性髓系白血病（AML）中很少见，且常与预后不良相关。它常与伴分化型急性髓系白血病（AML-M2）相关，在急性早幼粒细胞白血病（APL）中很少报道，APL在绝大多数病例中其特征为相互易位t(15;17)(q22;q21)，并产生异常的PML-RARA融合蛋白。大多数缺乏这种易位的罕见APL病例有可证实的RARA断点。我们报告了一例形态学上类似APL但缺乏t(15;17)和RARA断点的病例，该病例还存在8q24的MYC缺失，并伴有双微体染色体（dmin）上MYC扩增的发生。在初诊时观察到dmin的过度排除。将这些发现与文献中先前报道的少数病例进行了比较。
