{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:09:39Z","timestamp":1787015379005,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Translocation t(4;12)(q11\u201013;p13) is a recurrent but very rare chromosomal aberration in acute myeloid leukaemia (AML) resulting in the non\u2010constant expression of a\n                    <jats:italic>CHIC2<\/jats:italic>\n                    \/\n                    <jats:italic>ETV6<\/jats:italic>\n                    fusion transcript. We report clinico\u2010biological features, molecular characteristics and outcomes of 21 cases of t(4;12) including 19 AML and two myelodysplastic syndromes (MDS). Median age at the time of t(4;12) was 78\u00a0years (range, 56\u201388). Multilineage dysplasia was described in 10 of 19 (53%) AML cases and CD7 and\/or CD56 expression in 90%. FISH analyses identified\n                    <jats:italic>ETV6<\/jats:italic>\n                    and\n                    <jats:italic>CHIC2<\/jats:italic>\n                    region rearrangements in respectively 18 of 18 and 15 of 17\u00a0studied cases. The t(4;12) was the sole cytogenetic abnormality in 48% of cases. The most frequent associated mutated genes were\n                    <jats:italic>ASXL1<\/jats:italic>\n                    (n\u00a0=\u00a08\/16, 50%),\n                    <jats:italic>IDH1<\/jats:italic>\n                    \/\n                    <jats:italic>2<\/jats:italic>\n                    (n\u00a0=\u00a07\/16, 44%),\n                    <jats:italic>SRSF2<\/jats:italic>\n                    (n\u00a0=\u00a05\/16, 31%) and\n                    <jats:italic>RUNX1<\/jats:italic>\n                    (n\u00a0=\u00a04\/16, 25%). Interestingly, concurrent FISH and molecular analyses showed that t(4;12) can be, but not always, a founding oncogenic event. Median OS was 7.8\u00a0months for the entire cohort. In the 16 of 21 patients (76%) who received antitumoral treatment, overall response and first complete remission rates were 37% and 31%, respectively. Median progression\u2010free survival in responders was 13.7\u00a0months. Finally, t(4;12) cases harboured many characteristics of AML with myelodysplasia\u2010related changes (multilineage dysplasia, MDS\u2010related cytogenetic abnormalities, frequent\n                    <jats:italic>ASXL1<\/jats:italic>\n                    \u00a0mutations) and a poor prognosis.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.16895","type":"journal-article","created":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T19:41:25Z","timestamp":1631043685000},"page":"9557-9566","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Myeloid malignancies with translocation t(4;12)(q11\u201013;p13): molecular landscape, clonal hierarchy and clinical outcomes"],"prefix":"10.1111","volume":"25","author":[{"given":"Vincent","family":"Parinet","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9 Service d'H\u00e9matologie Clinique H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re APHP Paris 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