Chronic myeloid leukemia (CML) is a disease of hematopoietic stem cells and is caused by the balanced translocations among the long arms of chromosomes 9 and 22, which are called the Philadelphia (Ph) chromosome. In this study, 131 CML patients were enrolled. Complete blood cell count was performed at the time of diagnosis for all the patients. Cytogenetic (karyotyping) examination using bone marrow samples was conducted on 76 CML patients for the confirmation of Ph-positive (9;22)(q34;q11) standard translocation, complex variant translocation, and additional chromosome abnormalities. FISH was performed on 38 patients for diagnostic purposes and on 39 patients for monitoring purposes. Twenty-two samples of CML patients were evaluated by reverse transcriptase PCR and real-time PCR for the patients who failed to respond against imatinib mesylate. In this study, 72 (54.96%) were males and 59 (45.03%) were females with a median age of 38.5 years. CBC values in the diagnosis process showed that 75 patients had high values of WBC being , while 71 (58.01) patients exhibited reduced values of hemoglobin, i.e., <10.00 mg/dl, and high values of were observed in 40 (30.53%) patients. Cytogenetic results show that standard translocation was developed in 63 (82.89%), development of complex variant translocations in 4 (5.32%), additional chromosomal abnormalities (ACAs) in 3 (3.94%), and ACAs together with complex variant translocations in 1 (1.31%) patient. At the time of diagnosis, 61 (92.95%) patients were in the chronic phase, 4 (5.63%) were in the accelerated phase, and only 1 (1.40%) was in the blast crisis. Out of twenty-two patients, only 6 CML patients who were shifted from imatinib mesylate to nilotinib showed BCR-ABL-positive amplification. However, only 7 out of twenty-one patients exhibit BCR-ABL gene after three months of follow-up when analyzed by the quantitative real-time PCR. In conclusion, we found a novel five-way translocation 46XX,t(1;2;2;17;9;22)(p36.3,q21;q11.2,q21,q34,q11.2) and a novel four-way complex variant translocation 48XY,+8(8;17)(9;22),+der(22)(q11.2;q23)(q34;q11.2) in the accelerated phase.

中文翻译：

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慢性粒细胞白血病患者的分子、细胞遗传学和血液学分析以及两种新易位的发现

慢性粒细胞白血病（CML）是一种造血干细胞疾病，由 9 号和 22 号染色体长臂（称为费城 (Ph) 染色体）之间的平衡易位引起。在这项研究中，131 名 CML 患者入组。所有患者在诊断时均进行了全血细胞计数。使用骨髓样本对 76 名 CML 患者进行细胞遗传学（核型分析）检查，以确认 Ph 阳性（9;22）（q34;q11）标准易位、复杂变异易位和其他染色体异常。出于诊断目的对 38 名患者进行了 FISH，出于监测目的对 39 名患者进行了 FISH。通过逆转录酶 PCR 和实时 PCR 评估了 22 名 CML 患者样本，对甲磺酸伊马替尼无反应的患者进行了评估。本研究中，男性 72 例（54.96%），女性 59 例（45.03%），中位年龄 38.5 岁。诊断过程中CBC值显示75例患者WBC值偏高，而 71 名 (58.01) 名患者表现出血红蛋白值降低，即 <10.00 mg/dl，并且血红蛋白值较高在 40 名（30.53%）患者中观察到。细胞遗传学结果显示，63 例（82.89%）出现标准易位，4 例（5.32%）出现复杂变异易位，3 例（3.94%）出现额外染色体异常（ACA），1 例（1 例）出现 ACA 与复杂变异易位（ 1.31%）患者。诊断时，61例（92.95%）患者处于慢性期，4例（5.63%）处于加速期，只有1例（1.40%）处于急变期。在 22 名患者中，只有 6 名从甲磺酸伊马替尼转为尼罗替尼的 CML 患者显示 BCR-ABL 阳性扩增。然而，21 名患者中只有 7 名表现出 BCR-ABL 基因经过三个月的随访后，通过定量实时 PCR 进行分析。总之，我们发现了一个新的五向易位 46XX,t(1;2;2;17;9;22)(p36.3,q21;q11.2,q21,q34,q11.2) 和一个新的四向易位- 加速阶段复杂变体易位 48XY,+8(8;17)(9;22),+der(22)(q11.2;q23)(q34;q11.2)。