A partial nontandem duplication of the MLL gene in four patients with acute myeloid leukemia

• Published in: Cancer genetics and cytogenetics 2009-12, Vol.195 (2), p.150-156
• Main Authors: Šárová, Iveta, Březinová, Jana, Zemanová, Zuzana, Lizcová, Libuše, Berková, Adéla, Izáková, Silvia, Malinová, Eva, Fuchs, Ota, Kostečka, Arnošt, Provazníková, Dana, Filkuková, Jitka, Maaloufová, Jacqueline, Starý, Jan, Michalová, Kyra
• Format: Article
• Language: English
• Subjects: Adult; Base Sequence; DNA Primers; Female; Gene Duplication; Hematology, Oncology and Palliative Medicine; Histone-Lysine N-Methyltransferase; Humans; In Situ Hybridization, Fluorescence; Infant; Leukemia, Myeloid, Acute - genetics; Male; Medical Education; Myeloid-Lymphoid Leukemia Protein - genetics; Reverse Transcriptase Polymerase Chain Reaction; Translocation, Genetic
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2009.05.008

Abstract Unusual MLL gene rearrangements were found in bone marrow cells of four patients with acute myeloid leukemia. A combination of conventional and molecular cytogenetic methods were used to describe translocations t(9;12;11)(p22;p13;q23), t(11;19)(q23;p13.3), and t(10;11)(p12;23) and inverted insertion ins(10;11)(p12;q23.3q23.1). Partial nontandem duplication of the MLL gene was identified by reverse transcriptase–polymerase chain reaction in all cases. The duplication, which included MLL exons 2 through 8–9, was interrupted by a cryptic insertion of one or two exons from the respective MLL partner gene: MLLT10, MLLT3 , or MLLT1.