{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T15:04:18Z","timestamp":1714057458708},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Follicular lymphoma (FL) is a common form of non-Hodgkin lymphoma with an ability to transform into a more aggressive disease, albeit infrequently to B-lymphoblastic leukemia\/lymphoma. While t(14;18)(q32;q21) has been associated with approximately 90% cases of FL, that alteration alone is insufficient to cause FL and associated mutations are still being elucidated. The transformation of FL to B-lymphoblastic leukemia generally includes the dysregulation of <jats:italic>MYC<\/jats:italic> gene expression, typically through <jats:italic>IGH<\/jats:italic> rearrangement. Such cases of \u201cdouble-hit\u201d leukemia\/lymphoma with both <jats:italic>BCL2<\/jats:italic> and <jats:italic>MYC<\/jats:italic> translocations warrant further study as they are often not identified early, are associated with a poor prognosis, and are incompletely understood in molecular terms. Here we describe a patient with a diagnosis of FL that transformed to B-lymphoblastic leukemia. Detailed cytogenetic characterization of the transformed specimen using karyotype, fluorescence in situ hybridization, microarray and gene rearrangement analyses revealed a complex karyotype comprised principally of whole chromosome or whole arm copy number gains or losses. Smaller, single-gene copy number alterations identified by microarray were limited in number, but included amplification of a truncated <jats:italic>EP300<\/jats:italic> gene and alterations in <jats:italic>NEIL1<\/jats:italic> and <jats:italic>GPHN<\/jats:italic>. Analyses defined the presence of an <jats:italic>IGH\/BCL2<\/jats:italic> fusion due to a translocation as well as a <jats:italic>MYC\/IGH<\/jats:italic> fusion due to an insertion, with both rearrangements involving the same <jats:italic>IGH<\/jats:italic> allele. The data illustrate the value in characterizing double-hit lymphoma cases with both traditional and novel technologies in the detailed cytogenetic workup.<\/jats:p>","DOI":"10.1186\/1755-8166-6-34","type":"journal-article","created":{"date-parts":[[2013,8,28]],"date-time":"2013-08-28T12:14:49Z","timestamp":1377692089000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Characterization of a case of follicular lymphoma transformed into B-lymphoblastic leukemia"],"prefix":"10.1186","volume":"6","author":[{"given":"Yi","family":"Ning","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aubry","family":"Foss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy S","family":"Kimball","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas","family":"Neill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tricia","family":"Matz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,8,28]]},"reference":[{"key":"187_CR1","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1080\/10428190903093815","volume":"50","author":"D de-Jong","year":"2009","unstructured":"de-Jong D, de-Boer JP: Predicting transformation in follicular lymphoma. 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