ArticleMolecular cytogenetics2013
Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- [Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Review
- ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation.Virchows Archiv : an international journal of pathology · 2024Article
- ETV6::ABL1 positive myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) with blast crisis treated with flumatinib mesylate.Annals of hematology · 2024Article
- Mixed-phenotype (B-lymphocytic/myeloid) acute leukemia with ETV6-ABL1 expression.Pakistan journal of medical sciences · 2024Review
- Article
- Complex Genomic Rearrangements InvolvingGenes · 2023Article
- Identification of oral therapeutics using an AI platform against the virus responsible for COVID-19, SARS-CoV-2.Frontiers in pharmacology · 2023Article
- [Acute myeloid leukemia with co-expression of TEL-ABL1 and NUP98-HOXA9 fusion genes: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Review
- An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia.Oncogene · 2017Article
- A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement.Annals of laboratory medicine · 2017Article
- Characterization of leukemias with ETV6-ABL1 fusion.Haematologica · 2016Article
- An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL.Leukemia research reports · 2016Article
- Article
- A cryptic ETV6/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia.Annals of laboratory medicine · 2014Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN). Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. Whole genome screening carried out with oligonucleotide arrays showed a subtle loss at 12p13 and cryptic imbalances within the 9q34.3 region in a highly unstable genome. FISH mapping with custom BAC probes identified two breakpoints 5 Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe's role as the primary diagnostic FISH test for this chimeric oncogene. In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.