Chisti Mohammad Muhsin, Sanders Daniel Steven
Karmanos Cancer Institute at McLaren Oakland, Bloomfield Hills, Michigan, USA.
Department of Hematology/Oncology, McLaren Oakland Hospital, Michigan State University College of Osteopathic Medicine, Pontiac, Michigan, USA.
Case Rep Oncol. 2018 Jul 16;11(2):485-492. doi: 10.1159/000490697. eCollection 2018 May-Aug.
Fusion of b2a2 is the most common BCR/ABL rearrangement in CML; however, absent a2 exons are very rare. We describe a case with Philadelphia-positive chronic myeloid leukemia (CML) with a very rare b3a3 (e14a3) BCR/ABL junction. To our knowledge, only 15 such cases of CML have previously been reported. These uncommon transcripts may be under-reported, since RT-PCR-based assays may fail to detect these fusions due to the location of the primers and probes used. We are reporting this case for the first time which presented with MTHFR mutation and significant thrombocytosis. There is very limited information on how this genotype expresses and responds to treatment, especially to tyrosine kinase inhibitors, as compared to classic CML. Also, the relationship between MTHFR mutation and CML is not clear, although studies have been done.
b2a2融合是慢性粒细胞白血病（CML）中最常见的BCR/ABL重排；然而，缺失a2外显子的情况非常罕见。我们描述了1例费城染色体阳性慢性粒细胞白血病（CML）患者，其具有非常罕见的b3a3（e14a3）BCR/ABL连接。据我们所知，此前仅报道过15例此类CML病例。这些不常见的转录本可能未被充分报道，因为基于逆转录聚合酶链反应（RT-PCR）的检测方法可能因所用引物和探针的位置而无法检测到这些融合。我们首次报告了该病例，其伴有亚甲基四氢叶酸还原酶（MTHFR）突变和显著的血小板增多症。与经典CML相比，关于这种基因型如何表达以及对治疗尤其是酪氨酸激酶抑制剂的反应的信息非常有限。此外，尽管已经开展了相关研究，但MTHFR突变与CML之间的关系尚不清楚。
