Bruyère Hélène, Sutherland Heather, Chipperfield Katherine, Hudoba Monika
Department of Pathology and Laboratory Medicine, Vancouver General Hospital and University of British Columbia, Vancouver, BC, Canada.
Cancer Genet Cytogenet. 2010 Feb;197(1):75-80. doi: 10.1016/j.cancergencyto.2009.11.001.
A 61-year-old male patient presented with very high blood white cell count, left shift of granulocytes to blasts, as well as low hemoglobin and platelets. The bone marrow aspirate and biopsy were consistent with an acute myeloid leukemia (AML). Blasts presented with large azurophilic inclusions and prominent Auer rods resembling acute promyelocytic leukemia (APL). Cytogenetic analysis revealed a deletion 9p and double-minute chromosomes. Fluorescence in situ hybridization showed amplification of the MYC probe and the absence of a RARA rearrangement. The patient achieved complete morphologic and cytogenetic remission 1 month after allogenic transplant, but relapsed 1 month later. Cytogenetics showed MYC amplification as a homogeneously staining region inserted into the long arm of one chromosome 9 and as a ring structure. At least five other acute promyelocytic leukemia-like cases without translocation 15;17, but with double minutes, have been reported in the literature. Only one of these had no RARA rearrangement. This report presents a second patient with APL-like bone marrow morphology, absence of RARA rearrangement, and MYC amplification. In this case, the amplification happened in various concomitant or successive forms.
一名61岁男性患者出现白细胞计数极高、粒细胞左移至原始细胞，同时血红蛋白和血小板水平较低。骨髓穿刺和活检结果符合急性髓系白血病（AML）。原始细胞呈现出大的嗜天青颗粒包涵体和明显的Auer小体，类似急性早幼粒细胞白血病（APL）。细胞遗传学分析显示9号染色体短臂缺失和双微体染色体。荧光原位杂交显示MYC探针扩增且无RARA重排。该患者在异基因移植后1个月实现了完全形态学和细胞遗传学缓解，但1个月后复发。细胞遗传学显示MYC扩增表现为插入到一条9号染色体长臂上的均匀染色区以及环状结构。文献中已报道至少另外5例无15；17易位但有双微体的急性早幼粒细胞白血病样病例。其中只有1例无RARA重排。本报告介绍了第二例具有APL样骨髓形态、无RARA重排且有MYC扩增的患者。在该病例中，扩增以多种伴随或相继的形式发生。
