{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T15:07:37Z","timestamp":1726758457855},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":3969,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1995,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>MLL<\/jats:italic> (also known as <jats:italic>ALL\u20101, HTRX<\/jats:italic>, or <jats:italic>HRX<\/jats:italic>) gene translocations are among the most common chromosomal abnormalities recognized in both B\u2010lineage acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). However, <jats:italic>MLL<\/jats:italic> gene rearrangements are uncommon in T\u2010cell ALL. We recently detected an <jats:italic>MLL<\/jats:italic> gene rearrangement in a patient with typical T\u2010cell ALL (CD2<jats:sup>+<\/jats:sup>, CD4<jats:sup>+<\/jats:sup>, CD5<jats:sup>+<\/jats:sup>, CD7<jats:sup>+<\/jats:sup>, CD8<jats:sup>+<\/jats:sup>, HLA DR<jats:sup>\u2212<\/jats:sup>) and an apparently normal karyotype (46.XX). The rearrangement was cloned and characterized; a DNA fragment distal to the breakpoint was mapped by fluorescence in situ hybridization (FISH) to 19p13, indicating that the leukemic blasts had undergone a cytogenetically undetected rearrangement involving chromosomes 11 and 19. A reverse transcriptase\u2010polymerase chain reaction (RT\u2010PCR) assay demonstrated an in\u2010frame fusion mRNA between the amino terminus of <jats:italic>MLL<\/jats:italic> and the carboxy terminus of <jats:italic>ENL<\/jats:italic> (also known as <jats:italic>MLLT1<\/jats:italic> or <jats:italic>LTG19<\/jats:italic>), a gene that has been mapped to 19p13. In addition, <jats:italic>MLL<\/jats:italic> sequences distal (telomeric) to the breakpoint were deleted from the genome, which precludes the formation of a reciprocal ENL\/MLL fusion protein. These findings suggest that an MLL\/ENL fusion protein (and not a reciprocal ENL\/MLL fusion) was likely to be pathogenic in this patient, and they reinforce previous studies showing that leukemic blasts with apparently normal karyotype may harbor <jats:italic>MLL<\/jats:italic> rearrangements. Additionally, this report provides the first conclusive evidence of an <jats:italic>MLL\/ENL<\/jats:italic> gene fusion characterized at a molecular level in a patient with T\u2010cell ALL.<\/jats:p>","DOI":"10.1002\/gcc.2870140114","type":"journal-article","created":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T00:43:24Z","timestamp":1172105004000},"page":"76-84","source":"Crossref","is-referenced-by-count":14,"title":["Complex <i>MLL<\/i> rearrangement in a patient with T\u2010cell acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"14","author":[{"given":"David S.","family":"Chervinsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila N. J.","family":"Sait","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norma J.","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas B.","family":"Shows","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter D.","family":"Aplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"3259","DOI":"10.1182\/blood.V78.12.3259.3259","article-title":"Abnormalities of the retinoblastoma gene in pathogenesis of acute leukemia","volume":"78","author":"Ahuja HG","year":"1991","journal-title":"Blood"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"2943","DOI":"10.1182\/blood.V82.10.2943.2943","article-title":"Detection of 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