{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:59:50Z","timestamp":1776898790875,"version":"3.51.2"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T00:00:00Z","timestamp":1585180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Infant leukemias are a rare group of neoplasms that are clinically and biologically distinct from their pediatric and adult counterparts. Unlike leukemia in older children where survival rates are generally favorable, infants with leukemia have a 5\u2010year event\u2010free survival rate of &lt;50%. The majority of infant leukemias are characterized by <jats:italic>KMT2A<\/jats:italic> (<jats:italic>MLL<\/jats:italic>) rearrangements (~70 to 80% in acute lymphoblastic leukemia), which appear to be drivers of early leukemogenesis. In this report, we describe three cases: a 9\u2010month\u2010old female infant with B\u2010acute lymphoblastic leukemia (B\u2010ALL), an 8\u2010month\u2010old female presenting with B\/myeloid mixed phenotype acute leukemia (MPAL), and a 16\u2010month\u2010old male with B\u2010ALL. The first case had a normal karyotype and B\u2010ALL FISH results consistent with an atypical <jats:italic>KMT2A<\/jats:italic> rearrangement. The second case had trisomy 10 as the sole chromosomal abnormality and a normal <jats:italic>KMT2A<\/jats:italic> FISH result. Case 3 had trisomy 8 and a t(11;15)(q23;q21), an atypical <jats:italic>KMT2A<\/jats:italic> rearrangement by FISH studies, and a focal deletion of 15q with a breakpoint within the <jats:italic>USP8<\/jats:italic> gene by chromosomal microarray. Mate pair sequencing was performed on all three cases and identified a <jats:italic>KMT2A\u2010USP2<\/jats:italic> rearrangement (cases 1 and 2) or a <jats:italic>KMT2A\u2010USP8<\/jats:italic> rearrangement (case 3). These recently characterized <jats:italic>KMT2A<\/jats:italic> fusions have been described exclusively in infant and pediatric leukemia cases where the incidence varies vary according to leukemia subtype, are considered high\u2010risk, with a high incidence of central nervous system involvement, poor response to initial prednisone treatment, and poor event free survival. Additionally, approximately half of cases are unable to be resolved using standard cytogenetic approaches and are likely under recognized. Therefore, targeted molecular approaches are suggested in genetically unresolved infant leukemia cases to characterize these prognostically relevant clones.<\/jats:p>","DOI":"10.1002\/gcc.22842","type":"journal-article","created":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T18:38:16Z","timestamp":1584729496000},"page":"422-427","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Cryptic and atypical <scp>KMT2A\u2010USP2<\/scp> and <scp>KMT2A\u2010USP8<\/scp> rearrangements identified by mate pair sequencing in infant and childhood leukemia"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-1275","authenticated-orcid":false,"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8902-0950","authenticated-orcid":false,"given":"James B.","family":"Smadbeck","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine\u2010Biomarker Discovery Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iya","family":"Znoyko","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew R.","family":"Webley","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beth A.","family":"Pitel","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Vasmatzis","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine\u2010Biomarker Discovery Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinjie","family":"Xu","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia T.","family":"Greipp","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole L.","family":"Hoppman","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhett P.","family":"Ketterling","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Division of Hematopathology, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda B.","family":"Baughn","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn G.","family":"Lindsey","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia A.","family":"Schandl","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daynna J.","family":"Wolff","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2496-8000","authenticated-orcid":false,"given":"Jess F.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics, Department of Laboratory 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