{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T23:30:08Z","timestamp":1781220608509,"version":"3.54.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>\n            <jats:italic>ETV6-ABL1<\/jats:italic> 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 <jats:italic>ETV6-ABL1<\/jats:italic> 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\u00a0Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial <jats:italic>BCR-ABL1<\/jats:italic> probes failed to detect any <jats:italic>ABL1<\/jats:italic> changes, the <jats:italic>ETV6<\/jats:italic> break-apart probe conclusively identified the <jats:italic>ETV6-ABL1<\/jats:italic> fusion thus determining the probe\u2019s role as the primary diagnostic FISH test for this chimeric oncogene. In addition, we confirm the association of the <jats:italic>ETV6-ABL1<\/jats:italic> fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2<jats:sup>nd<\/jats:sup> generation tyrosine kinase inhibitor (TKI) nilotinib<jats:italic>.<\/jats:italic> In summary, we highlight the value of <jats:italic>ETV6<\/jats:italic> FISH as a diagnostic test and the therapy resistance of <jats:italic>ETV6-ABL1<\/jats:italic> positive disorders to imatinib.<\/jats:p>","DOI":"10.1186\/1755-8166-6-39","type":"journal-article","created":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T11:01:17Z","timestamp":1379674877000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review"],"prefix":"10.1186","volume":"6","author":[{"given":"Katya","family":"Gancheva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Virchis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Howard-Reeves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick CP","family":"Cross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Brazma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Grace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Kotzampaltiris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fedra","family":"Partheniou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Nacheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"issue":"5","key":"193_CR1","first-page":"1027","volume":"3","author":"W Al-Achkar","year":"2012","unstructured":"Al-Achkar W: A chronic myeloid leukemia case with a unique variant Philadelphia translocation: t(9;22;21)(q34;q11;p12). 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