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AML with t(7;12) is reported to involve <jats:italic>MNX1<\/jats:italic> and <jats:italic>ETV6<\/jats:italic> signaling; however, the mechanism of leukemogenesis is not well understood, and the presence of <jats:italic>MNX1<\/jats:italic>::<jats:italic>ETV6<\/jats:italic> fusion transcripts has only been confirmed in approximately 50% of cases. In contrast, high expression of <jats:italic>MNX1<\/jats:italic> has been seen in all investigated cases. In this study, we investigated the clinical as well as biological characteristics of 12 pediatric AML with t(7;12) and performed whole transcriptome (WTS) and whole genome sequencing (WGS) on six of these. There was no significant difference in event\u2010free survival or overall survival of these t(7;12) AML patients compared with other AML in the same age group. Interestingly, WTS identified several fusion transcripts involving <jats:italic>ETV6<\/jats:italic> but not together with <jats:italic>MNX1<\/jats:italic>. WGS identified the genomic breakpoints and revealed that a common fusion partner on chromosome 7 was <jats:italic>NOM1<\/jats:italic>. Principal component analysis (PCA) of the WTS data showed that all t(7;12) AML cases cluster together, separate from all other pediatric AML subtypes; all cases had high expression of <jats:italic>MNX1<\/jats:italic>, <jats:italic>MNX1\u2010AS1<\/jats:italic>, and <jats:italic>MNX1\u2010AS2<\/jats:italic>. Hence, t(7;12) AML, despite expressing different fusion transcripts and with varying translocation breakpoints, constitutes a phenotypically homogenous subgroup. This underlines that the leukemia\u2010driving event most likely is ectopic expression of <jats:italic>MNX1<\/jats:italic> and that this therefore should be the defining Classifying criteria of this type of AML.<\/jats:p>","DOI":"10.1002\/gcc.70003","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T12:01:19Z","timestamp":1730980879000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)"],"prefix":"10.1002","volume":"63","author":[{"given":"Anders","family":"\u00d6stlund","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine, University of Gothenburg  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Waraky","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of 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