{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T18:43:18Z","timestamp":1770835398748,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T00:00:00Z","timestamp":1574726400000},"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":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Precursor B cell phenotype Burkitt lymphoma\/leukemia with IGH\u2010<jats:italic>MYC<\/jats:italic> is a rare subtype of Burkitt lymphoma (BL). BL and B lymphoblastic leukemia\/lymphoma (B\u2010ALL\/LBL) differ as regards treatment and the distinction between these two entities is crucial. Patients demonstrating a terminal deoxynucleotidyl transferase (TdT)\u2010positive precursor B cell phenotype with IGH\u2010<jats:italic>MYC<\/jats:italic> rearrangement have been reported to be molecularly distinct from BL and closer to B\u2010ALL\/LBL. We investigated the molecular characteristics of two cases of a rare but distinct TdT\u2010negative precursor B cell phenotype BL. Both patients showed FAB L3 morphology with IGH\u2010<jats:italic>MYC<\/jats:italic> translocation, but had precursor B cell immunophenotypes including dim to moderate expression of CD45 and absence of BCL6, CD20, monoclonal kappa, and lambda light chain expression. To characterize the molecular features, we performed exome sequencing and analyzed the breakpoint junction of the IGH\u2010<jats:italic>MYC<\/jats:italic> rearrangement. We detected <jats:italic>KMT2D<\/jats:italic> mutations in both cases, a rarely acquired chromatin modifying gene mutation in BL. The breakpoint analysis revealed that the IGH\u2010<jats:italic>MYC<\/jats:italic> rearrangement occurred due to an aberrant VDJ recombination in one case. The treatment protocols differed, including high\u2010grade lymphoma treatment and standard B\u2010ALL treatment. Complete remission was achieved in the patient who received B\u2010ALL treatment. The degree of resemblance of BL and B\u2010ALL differed between two cases, but the molecular pathogenesis and manifesting features of both TdT\u2010negative precursor B cell phenotype BL case were distinct from classic BL, which indicates the need for a better understanding of this uncommon entity that does not fit in current diagnostic and classification categories.<\/jats:p>","DOI":"10.1002\/gcc.22825","type":"journal-article","created":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T15:43:17Z","timestamp":1573314197000},"page":"255-260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular characteristics of terminal deoxynucleotidyl transferase negative precursor B\u2010cell phenotype Burkitt leukemia with IGH<i>\u2010MYC<\/i> rearrangement"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9296-5085","authenticated-orcid":false,"given":"Jung","family":"Yoon","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae Won","family":"Yun","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chul Won","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee Young","family":"Ju","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong Hoe","family":"Koo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun\u2010Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee\u2010Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Sungkyunkwan University School of Medicine  Seoul South 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