{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:41:31Z","timestamp":1793047291347,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"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":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Burkitt lymphoma (BL) is characterized by a translocation of the <jats:italic>MYC<\/jats:italic> oncogene that leads to the upregulation of <jats:italic>MYC<\/jats:italic> expression, cell growth and proliferation. It is well\u2010established that <jats:italic>MYC<\/jats:italic> translocation is not a sufficient genetic event to cause BL. Next\u2010generation sequencing has recently provided a comprehensive analysis of the landscape of additional genetic events that contribute to BL lymphomagenesis. Refractory BL or relapsing BL are almost always incurable as a result of the selection of a highly chemoresistant clonally related cell population. Conversely, a few BL recurrence cases arising from clonally distinct tumors have been reported and were associated with a favorable outcome similar to that reported for first\u2010line treatment. Here, we used an unusual case of recurrent but clonally distinct EBV+ BL to highlight the key genetic events that drive BL lymphomagenesis. By whole exome sequencing, we established that <jats:italic>ID3<\/jats:italic> gene was targeted by distinct mutations in the two clonally unrelated diseases, highlighting the crucial role of this gene during lymphomagenesis. We also detected a heterozygous E1021K <jats:italic>PIK3CD<\/jats:italic> mutation, thus increasing the spectrum of somatic mutations altering the PI3K signaling pathway in BL. Interestingly, this mutation is known to be associated with activated phosphoinositide 3\u2010kinase delta syndrome (APDS). Finally, we also identified an inherited heterozygous truncating c.5791CT <jats:italic>FANCM<\/jats:italic> mutation that may contribute to the unusual recurrence of BL.<\/jats:p>","DOI":"10.1002\/gcc.22743","type":"journal-article","created":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T04:38:47Z","timestamp":1550551127000},"page":"595-601","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis"],"prefix":"10.1002","volume":"58","author":[{"given":"Dominique","family":"Penther","sequence":"first","affiliation":[{"name":"Department of Biopathology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Julien","family":"Viailly","sequence":"additional","affiliation":[{"name":"INSERM U1245 Centre Henri Becquerel and Rouen University  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Latour","sequence":"additional","affiliation":[{"name":"INSERM UMR_S1163 Institut Imagine Universit\u00e9 Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascaline","family":"Etancelin","sequence":"additional","affiliation":[{"name":"Department of Biopathology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Bohers","sequence":"additional","affiliation":[{"name":"INSERM U1245 Centre Henri Becquerel and Rouen University  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Vellemans","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Camus","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Lise","family":"Menard","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Coutant","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital, F76000 and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Lanic","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen 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UMR7212 Saint Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Soulier","sequence":"additional","affiliation":[{"name":"INSERM U944\/CNRS UMR7212 Saint Louis Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital, F76000 and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herv\u00e9","family":"Tilly","sequence":"additional","affiliation":[{"name":"INSERM U1245 Centre Henri Becquerel and Rouen University  Rouen France"},{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6804-7943","authenticated-orcid":false,"given":"Fabrice","family":"Jardin","sequence":"additional","affiliation":[{"name":"INSERM U1245 Centre Henri Becquerel and Rouen University  Rouen France"},{"name":"Department of Clinical Hematology Centre Henri Becquerel  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,27]]},"reference":[{"issue":"1","key":"e_1_2_5_2_1","first-page":"54","article-title":"Burkitt lymphoma: analysis of the genome","volume":"10","author":"Dave S","year":"2012","journal-title":"Clin Adv Hematol 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