MLL-SEPT5 fusion transcript in infant acute myeloid leukemia with t(11;22)(q23;q11). Issue 3 (March 2014)

• Record Type: Journal Article
• Authors: Launay, Erika; Henry, Catherine; Meyer, Claus; Chappé, Céline; Taque, Sophie; Boulland, Marie-Laure; Ben Abdelali, Raouf; Dugay, Frédéric; Marschalek, Rolf; Bastard, Christian; Fest, Thierry; Gandemer, Virginie; Belaud-Rotureau, Marc-Antoine
• Is Part Of: Leukemia & lymphoma. Volume 55:Issue 3(2014:Mar.)
• Page Start: 662
• Page End: 667
• Publication Date: 2014-03
• Subjects: Leukemia -- Periodicals; Lymphomas -- Periodicals; 616.99419
• DOI: 10.3109/10428194.2013.809528
• Languages: English
• ISSNs: 1042-8194

Abstract

<abstract> <title>Abstract</title> <p>Chromosomal rearrangements involving the <italic>MLL</italic> gene at band 11q23 are the most common genetic alteration encountered in infant acute myeloid leukemia. Reciprocal translocation represents the most frequent form of <italic>MLL</italic> rearrangement. Currently, more than 60 partner genes have been identified. We report here a case of <italic>de novo</italic> acute myeloid leukemia with a t(11;22)(q23;q11) in a 23-month-old child. Fluorescence <italic>in situ</italic> hybridization study revealed that the 3'<italic>MLL</italic> segment was translocated onto the derivative chromosome 22 and the breakpoint on chromosome 22 was located in or near the <italic>SEPT5</italic> gene at 22q11.21. Long distance inverse-polymerase chain reaction was used to identify precisely the <italic>MLL</italic> partner gene and confirmed the <italic>MLL–SEPT5</italic> fusion transcript. Involvement of the <italic>SEPT5</italic> gene in <italic>MLL</italic> rearrangement occurs very rarely. Clinical, cytogenetic and molecular features of acute myeloid leukemia with a <italic>MLL–SEPT5</italic> fusion gene are reviewed.</p> </abstract>