急性髓系白血病合并BCR::ABL1+融合2例报告并文献复习。

IF 0.7 Q4 ONCOLOGY
Case Reports in Oncology Pub Date : 2025-07-31 eCollection Date: 2025-01-01 DOI:10.1159/000547487
Dominik S Dabrowski, Abhilasha Ghildyal, Alice S Yu, Xiaoming Fan, Rusella Mirza, Long Jin, Min Dai, Rodney E Shackelford, Eric X Wei
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引用次数: 0

摘要

BCR: ABL1+融合与慢性髓性白血病和前体B急性淋巴细胞白血病有关。急性髓性白血病(AML)合并BCR::ABL1+融合虽然罕见,但仍有持续的报道。我们报告两个这样的案例。病例介绍:第一位患者是一名38岁男性,自2004年以来一直呈人类免疫缺陷病毒阳性,伴有白细胞增多和大量循环母细胞,荧光原位杂交分析91%的细胞显示BCR::ABL1+融合重排的证据。他对酪氨酸激酶抑制剂联合化疗反应良好。他在治疗2年后无病,但在首次就诊后6年在分子水平上表现出极小的残余疾病。第二例为69岁女性,患有贫血、血小板减少症和25%循环原细胞。她的流式细胞分析显示CD34+和CD117+未成熟髓细胞群。她最初的细胞遗传学分析显示t(9;22)易位,丢失12号和17号染色体,1号染色体的衍生物,周中心内翻(17)和两条小标记染色体。逆转录聚合酶链反应显示p190和p210 BCR::ABL1+融合转录物。她接受了多种化疗组合,包括达沙替尼、阿糖胞苷和伊达柔比星。患者在治疗18个月后表现出持续性疾病,外周血中可检测到BCR::ABL1+转录物。与第一位患者相比,她的癌症复杂的基因特征可能是她的反应较差的原因。她没有跟进。结论:随着治疗方法的不断改进和文献中病例的减少,正确及时的诊断和适当的处理BCR::ABL1+ AML是有必要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute Myeloid Leukemia with BCR::ABL1+ Fusion: A Report of Two Cases and Review of Literature.

Introduction: BCR::ABL1+ fusion is associated with chronic myelogenous leukemia and precursor B acute lymphoblastic leukemia. Though rare, there has been continued reporting of acute myeloid leukemia (AML) with BCR::ABL1+ fusion. We report two such cases.

Case presentations: The first is a 38-year-old male, who has been human immunodeficiency virus positive since 2004, with leukocytosis and numerous circulating blasts that showed evidence of a BCR::ABL1+ fusion rearrangement in the 91% of the cells analyzed via fluorescence in situ hybridization. He responded well to tyrosine kinase inhibitor combined chemotherapy. He was free of disease at 2 years of treatment but showed minimal residual disease at the molecular level 6 years after initial presentation. The second is a 69-year-old female with anemia, thrombocytopenia, and 25% circulating blasts. Her flow cytometric analysis revealed a CD34+ and CD117+ immature myeloid blast population. Her initial cytogenetic analysis showed t(9;22) translocation with loss of chromosomes 12 and 17, derivative of chromosome 1, pericentric inv(17), and two small marker chromosomes. Reverse transcription polymerase chain reaction revealed p190 and p210 BCR::ABL1+ fusion transcripts. She received multiple combinations of chemotherapy, consisting of dasatinib, cytarabine, and idarubicin. The patient showed persistent disease at 18 months of therapy with detectable BCR::ABL1+ transcripts in peripheral blood. The complex genetic profile of her cancer is likely the reason for her poor response, compared to the first patient. She was lost to follow-up.

Conclusion: With ever improving therapy available and few cases in the literature, correct and timely diagnosis with proper management of AML with BCR::ABL1+ is warranted.

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来源期刊
CiteScore
1.40
自引率
12.50%
发文量
151
审稿时长
7 weeks
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