Acar Kadir, Uz Burak
Gazi University Faculty of Medicine, Department of Internal Medicine, Division of Hematology, Turkey.
Pan Afr Med J. 2018 Jun 22;30:161. doi: 10.11604/pamj.2018.30.161.9318. eCollection 2018.
Chronic myeloid leukemia (CML) is characterized by the presence of the Philadelphia chromosome (Ph), usually due to a reciprocal translocation, t(9;22)(q34;q11.2). The remaining cases (2-10%) have variant translocation, and more rarely (~1%) a cryptic rearrangement is present which can be detected by fluorescence in situ hybridization analysis in a CML patient with a Ph-negative karyotype (Masked Ph). We present a masked/variant BCL-ABL-positive CML patient showing a t(11;22)(q23;q11.2) which was detected using a combined approach of conventional cytogenetics and reverse transcription polymerase chain reaction. In February 2013, the patient was diagnosed as having CML. Imatinib mesylate (400 mg/day), was then started. Under imatinib therapy a complete hematologic and cytogenetic response was attained. In December 2013, an increment in BCR-ABL/ABL transcript levels according to the International Scale (from 0.0471% to 1.4034%), indicating imatinib failure, was documented. Administration of nilotinib (400 mg twice daily) resulted in durable molecular response after 3 months. The patient is still on nilotinib treatment throughout the observation period with no sign of recurrence and adverse events.
慢性髓性白血病（CML）的特征是存在费城染色体（Ph），通常是由于相互易位，即t(9;22)(q34;q11.2)。其余病例（2%-10%）存在变异易位，更罕见的情况（约1%）是存在隐匿性重排，这可通过荧光原位杂交分析在核型为Ph阴性的CML患者中检测到（隐匿性Ph）。我们报告了一例隐匿性/变异型BCL-ABL阳性的CML患者，其显示t(11;22)(q23;q11.2)，这是通过传统细胞遗传学和逆转录聚合酶链反应的联合方法检测到的。2013年2月，该患者被诊断为患有CML。随后开始使用甲磺酸伊马替尼（400毫克/天）治疗。在伊马替尼治疗下，患者获得了完全血液学和细胞遗传学反应。2013年12月，记录到根据国际标准BCR-ABL/ABL转录水平升高（从0.0471%升至1.4034%），表明伊马替尼治疗失败。给予尼洛替尼（400毫克，每日两次）3个月后产生了持久的分子反应。在整个观察期内，该患者仍在接受尼洛替尼治疗，没有复发迹象和不良事件。
