背景慢性粒细胞白血病（CML）是一种骨髓增生性疾病，其特征是存在费城（Ph）染色体，该染色体是由 ABL1 基因从 9 号染色体易位到位于 22 号染色体的 BCR 基因融合形成的 BCR 所致。 -ABL基因位于22号染色体上，约占CML病例的95%。可能会发生涉及其他染色体的复杂易位。病例报告 我们提出了一个罕见的 CML 病例，该病例带有 Ph 染色体变异，其中 16 号染色体参与了通常的易位。一名 34 岁女性，有左上腹疼痛和多汗病史，检查无肝脾肿大。她被发现白细胞增多，中性粒细胞（34 000/mm3）、嗜碱性粒细胞（1460/mm3）和嗜酸性粒细胞（2650/mm3）升高。核型分析显示易位 (16;22) (q24,q11.2)，FISH 分析显示 BCR-ABL 融合是 (9,22) 易位的结果，涉及第三条染色体（16 号染色体）并与 22 号染色体融合，具有文献中从未报道过的不同断点，影响16号染色体的长臂。该患者接受了第一代酪氨酸激酶抑制剂（伊马替尼）治疗，并获得了深度分子缓解。重复的 FISH 分析证实了 (9,22) 和 (16,22) 易位均消失。结论 额外染色体畸变对 CML 的影响具有广泛的异质性，其结果取决于多种因素。需要更大规模的研究来阐明 Ph 染色体变异的 CML 的结果，因为大多数可用数据来自报告的病例。

BACKGROUND Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of the Philadelphia (Ph) chromosome, which results from the fusion of the translocation of the ABL1 gene from chromosome 9 to the BCR gene located in chromosome 22, forming the BCR-ABL gene on chromosome number 22, which accounts for approximately 95% of CML cases. Complex translocation involving other chromosomes can occur. CASE REPORT We present a rare case of CML with a variant Ph chromosome, in which chromosome 16 was involved with the usual translocation. A 34-year-old woman presented with a history of left upper quadrant pain and excessive sweating, with no hepatosplenomegaly on examination. She was found to have leukocytosis, with elevated neutrophils (34 000/mm³), basophils (1460/mm³), and eosinophils (2650/mm³). Karyotyping showed a translocation (16;22) (q24,q11.2), and FISH analysis showed BCR-ABL fusion as a result of (9,22) translocation, with a third chromosome (chromosome 16) involved and fused with chromosome 22, with a different breakpoint, which has never been reported in the literature, affecting the long arm of chromosome 16. The patient was treated with a first-generation tyrosine kinase inhibitor (imatinib) and achieved a deep molecular remission. The repeated FISH analysis confirmed the disappearance of both translocations (9,22) and (16,22). CONCLUSIONS The impact of the additional chromosomal aberration in CML is widely heterogeneous, and the outcome is dependent on multiple factors. Larger studies are needed to clarify the outcome in CML with variant Ph chromosomes, as most of the available data come from reported cases.