Neuendorff Nina Rosa, Burmeister Thomas, Dörken Bernd, Westermann Jörg
Dept. of Hematology, Oncology and Tumor Immunology, Charité - University Medicine Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
Labor Berlin Charité-Vivantes GmbH, Sylter Str. 2, 13353, Berlin, Germany.
Ann Hematol. 2016 Aug;95(8):1211-21. doi: 10.1007/s00277-016-2721-z. Epub 2016 Jun 14.
BCR-ABL-positive acute myeloid leukemia (AML) is a rare subtype of AML that is now included as a provisional entity in the 2016 revised WHO classification of myeloid malignancies. Since a clear distinction between de novo BCR-ABL+ AML and chronic myeloid leukemia (CML) blast crisis is challenging in many cases, the existence of de novo BCR-ABL+ AML has been a matter of debate for a long time. However, there is increasing evidence suggesting that BCR-ABL+ AML is in fact a distinct subgroup of AML. In this study, we analyzed all published cases since 1975 as well as cases from our institution in order to present common clinical and molecular features of this rare disease. Our analysis shows that BCR-ABL predominantly occurs in AML-NOS, CBF leukemia, and AML with myelodysplasia-related changes. The most common BCR-ABL transcripts (p190 and p210) are nearly equally distributed. Based on the analysis of published data, we provide a clinical algorithm for the initial differential diagnosis of BCR-ABL+ AML. The prognosis of BCR-ABL+ AML seems to depend on the cytogenetic and/or molecular background rather than on BCR-ABL itself. A therapy with tyrosine kinase inhibitors (TKIs) such as imatinib, dasatinib, or nilotinib is reasonable, but-due to a lack of systematic clinical data-their use cannot be routinely recommended in first-line therapy. Beyond first-line treatment of AML, the use of TKI remains an individual decision, both in combination with intensive chemotherapy and/or as a bridge to allogeneic stem cell transplantation. In each single case, potential benefits have to be weighed against potential risks.
BCR-ABL阳性急性髓系白血病（AML）是AML的一种罕见亚型，在2016年修订的世界卫生组织髓系恶性肿瘤分类中被列为临时实体。由于在许多情况下，区分原发性BCR-ABL+ AML和慢性髓系白血病（CML）急变期具有挑战性，原发性BCR-ABL+ AML的存在长期以来一直存在争议。然而，越来越多的证据表明，BCR-ABL+ AML实际上是AML的一个独特亚组。在本研究中，我们分析了自1975年以来所有已发表的病例以及我们机构的病例，以呈现这种罕见疾病的常见临床和分子特征。我们的分析表明，BCR-ABL主要发生在AML-NOS、CBF白血病以及伴有骨髓发育异常相关改变的AML中。最常见的BCR-ABL转录本（p190和p210）分布几乎相等。基于对已发表数据的分析，我们提供了一种用于BCR-ABL+ AML初始鉴别诊断的临床算法。BCR-ABL+ AML的预后似乎取决于细胞遗传学和/或分子背景，而非BCR-ABL本身。使用酪氨酸激酶抑制剂（TKIs）如伊马替尼、达沙替尼或尼罗替尼进行治疗是合理的，但由于缺乏系统的临床数据，在一线治疗中不能常规推荐使用。除了AML的一线治疗外，TKI的使用仍然是一个个体化的决定，无论是与强化化疗联合使用和/或作为异基因干细胞移植的桥梁。在每一个病例中，都必须权衡潜在的益处和潜在的风险。
