Myeloproliferative neoplasms (MPNs) are diseases of myeloid series usually with an increase in peripheral blood cells. Among this disease group, only chronic myeloid leukemia (CML) has t(9; 22) (Philadelphia chromosome) leading to the production of BCR-ABL1 fusion gene with tyrosine kinase activity. The main distinction between the diagnosis and treatment of this heterogeneous group is the presence of BCR-ABL1 or JAK-2 V617F mutation. The coexistence of these two mutations may be observed, although not frequently, and can lead to delay in the diagnosis. The case here presents the detection and clinical management of JAK-2 V617F mutation after the suspicion of other MPNs due to fluctuations in clinical and hematological responses of this rare entity in a 78-year-old female patient with CML. To the best of our knowledge, this is the first CML case with coexistence of BCR-ABL1 translocation and JAK2 V617F mutation from Turkey.

中文翻译：

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慢性粒细胞性白血病中的一个罕见实体：BCR ABL1易位和JAK2 V617F突变并存。案例报告

骨髓增生性肿瘤（MPN）是髓样系列疾病，通常伴有外周血细胞增多。在该疾病组中，只有慢性粒细胞白血病（CML）具有t（9; 22）（费城染色体），导致产生具有酪氨酸激酶活性的BCR-ABL1融合基因。该异种组的诊断和治疗之间的主要区别是BCR-ABL1或JAK-2 V617F突变的存在。可以观察到这两个突变的共存，尽管并不常见，并且可能导致诊断延迟。该病例介绍了在78岁的CML女性患者中，由于该罕见实体的临床和血液学反应出现波动而怀疑其他MPN后，JAK-2 V617F突变的检测和临床处理。据我们所知，