ArticleVirchows Archiv : an international journal of pathology2015
BCR-ABL1 e6a2 transcript in chronic myeloid leukemia: biological features and molecular monitoring by droplet digital PCR.
Article in Virchows Archiv : an international journal of pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- The silent players: AtypicalOncology reports · 2025Review
- [Chronic myeloid leukemia with e6a2 fusion gene: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Optimizing Molecular Minimal Residual Disease Analysis in Adult Acute Lymphoblastic Leukemia.Cancers · 2023Review
- Article
- Digital PCR forHemaSphere · 2020Review
- Review
- Minimal residual disease in acute lymphoblastic leukemia: technical aspects and implications for clinical interpretation.Blood research · 2020Review
- Digital PCR: A Reliable Tool for Analyzing and Monitoring Hematologic Malignancies.International journal of molecular sciences · 2020Review
- Monitoring of Minimal Residual Disease (MRD) in Chronic Myeloid Leukemia: Recent Advances.Cancer management and research · 2020Review
- Advantages of digital PCR in the detection of low abundanceOncology letters · 2019Article
- A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review.BMC cancer · 2019Review
- Minimal Residual Disease in Acute Lymphoblastic Leukemia: Technical and Clinical Advances.Frontiers in oncology · 2019Review
- Droplet digital PCR for the quantification of Alu methylation status in hematological malignancies.Diagnostic pathology · 2018Article
- A double Philadelphia chromosome-positive chronic myeloid leukemia patient, co-expressing P210Haematologica · 2018Article
- Philadelphia chromosome positive AML arising from JAK2-positive myelofibrosis.Biomarker research · 2018Article
- Chronic Myeloid Leukemia with an e6a2Case reports in hematology · 2017Article
- Droplet digital PCR analysis of NOTCH1 gene mutations in chronic lymphocytic leukemia.Oncotarget · 2016Article
- Molecular monitoring of chronic myeloid leukemia: present and future.Expert review of molecular diagnostics · 2016Review
- New Methodologies in the Molecular Monitoring of CML.Current hematologic malignancy reports · 2016Review
- The Droplet Digital PCR: A New Valid Molecular Approach for the Assessment ofFrontiers in pharmacology · 2016Article
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15 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The BCR-ABL1 fusion on the Philadelphia (Ph) chromosome is a hallmark of chronic myeloid leukemia (CML). More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster region or M-bcr), whereas rare BCR-ABL1 transcripts are occasionally observed, accounting for less than 1 % of CML cases. Among these, a very rare fusion transcript joining the first 6 exons of BCR to exon 2 of ABL1 (e6a2) has been reported in various hematological malignancies characterized by an aggressive clinical course. We report a new case of blast crisis (BC) CML with an e6a2 fusion transcript characterized by many eosinophil precursors with abnormal granules. Moreover, fluorescence in situ hybridization analysis revealed genomic deletions of 1.3 megabases and 342 kilobases on der(9) of chromosome 9 and 22 sequences, respectively. The fusion transcript was quantified at diagnosis and during follow-up using digital droplet polymerase chain reaction (ddPCR) technology. The patient was treated with Dasatinib (140 mg/day), resulting in a 3-log reduction of the e6a2 transcript molecular burden from the third month after treatment. In this twentieth e6a2 case, characterized by marked eosinophilic dysplasia, deletions on der(9), and responsive to tyrosine kinase inhibitors therapy, we demonstrate that for molecular response monitoring of rare fusion transcripts associated with CML, ddPCR is a very useful technology.
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