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Ref Type Journal Article
PMID (24053143)
Authors Gancheva K, Virchis A, Howard-Reeves J, Cross NC, Brazma D, Grace C, Kotzampaltiris P, Partheniou F, Nacheva E
Title Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review.
Journal Molecular cytogenetics
Vol 6
Issue 1
Date 2013 Sep 20
Abstract Text 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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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 - ABL1 chronic myeloid leukemia predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a clinical case study, Tasigna (nilotinib) treatment resulted in a complete hematological response after 4 weeks of treatment and sustained complete cytogenetic response and major molecular response at 22 months from diagnosis in a patient with chronic myeloid leukemia harboring ETV6-ABL1, whose disease progressed while on Gleevec (imatinib mesylate) at 6 months from diagnosis (PMID: 24053143). 24053143
ETV6 - ABL1 chronic myeloid leukemia predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with chronic myeloid leukemia harboring ETV6-ABL1 achieved a complete hematological response after 4 weeks of Gleevec (imatinib mesylate) treatment, but the disease progressed at 6 months (PMID: 24053143). 24053143