Dept. of Hematopathology, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
Am J Clin Pathol. 2010 Mar;133(3):484-90. doi: 10.1309/AJCPJ7K0AWMBHMAI.
Despite the success of the current therapy for patients with acute promyelocytic leukemia (APL), relapse occurs in up to 30% of patients. The characteristics of relapsed APL are not well described. We evaluated a group of APL cases at relapse and compared the clinicopathologic, immunophenotypic, molecular, and cytogenetic findings with those at initial diagnosis. From a group of 207 patients with APL, in 38 patients morphologic evidence of relapse developed. In 30 patients relapse was isolated to bone marrow, and 8 had extramedullary disease. Blasts were morphologically stable in 37 patients. Changes in the immunophenotypic profile were common, the most frequent being gain of CD34, HLA-DR, or CD33 and attenuation or loss of CD13. Cytogenetic changes were common at relapse. The size of the PML-RARalpha fusion transcript was invariable. We conclude that changes in the immunophenotype and cytogenetic evidence of clonal evolution are common in APL at the time of relapse.
尽管目前对急性早幼粒细胞白血病（APL）患者的治疗取得了成功，但仍有多达 30%的患者会复发。复发 APL 的特征尚未得到很好的描述。我们评估了一组复发 APL 病例，并将其临床病理、免疫表型、分子和细胞遗传学特征与初诊时进行了比较。在 207 例 APL 患者中，有 38 例出现形态学复发证据。30 例患者仅骨髓复发，8 例患者有髓外疾病。37 例患者的白血病细胞形态稳定。免疫表型谱的变化很常见，最常见的是 CD34、HLA-DR 或 CD33 的获得，以及 CD13 的减弱或缺失。细胞遗传学改变在复发时也很常见。PML-RARalpha 融合转录本的大小不变。我们得出结论，在复发时，APL 的免疫表型和细胞遗传学证据均显示克隆进化的改变很常见。
