Dominik S Dabrowski, Abhilasha Ghildyal, Alice S Yu, Xiaoming Fan, Rusella Mirza, Long Jin, Min Dai, Rodney E Shackelford, Eric X Wei
{"title":"急性髓系白血病合并BCR::ABL1+融合2例报告并文献复习。","authors":"Dominik S Dabrowski, Abhilasha Ghildyal, Alice S Yu, Xiaoming Fan, Rusella Mirza, Long Jin, Min Dai, Rodney E Shackelford, Eric X Wei","doi":"10.1159/000547487","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong><i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> fusion. We report two such cases.</p><p><strong>Case presentations: </strong>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 <i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> 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.</p><p><strong>Conclusion: </strong>With ever improving therapy available and few cases in the literature, correct and timely diagnosis with proper management of AML with <i>BCR::ABL1</i>+ is warranted.</p>","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"18 1","pages":"1198-1206"},"PeriodicalIF":0.7000,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503598/pdf/","citationCount":"0","resultStr":"{\"title\":\"Acute Myeloid Leukemia with <i>BCR::ABL1</i>+ Fusion: A Report of Two Cases and Review of Literature.\",\"authors\":\"Dominik S Dabrowski, Abhilasha Ghildyal, Alice S Yu, Xiaoming Fan, Rusella Mirza, Long Jin, Min Dai, Rodney E Shackelford, Eric X Wei\",\"doi\":\"10.1159/000547487\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong><i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> fusion. We report two such cases.</p><p><strong>Case presentations: </strong>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 <i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> 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 <i>BCR::ABL1+</i> 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.</p><p><strong>Conclusion: </strong>With ever improving therapy available and few cases in the literature, correct and timely diagnosis with proper management of AML with <i>BCR::ABL1</i>+ is warranted.</p>\",\"PeriodicalId\":9625,\"journal\":{\"name\":\"Case Reports in Oncology\",\"volume\":\"18 1\",\"pages\":\"1198-1206\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-07-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503598/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000547487\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000547487","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
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.