A partial nontandem duplication of the MLL gene in four patients with acute myeloid leukemia Iveta Šárová, Jana Březinová, Zuzana Zemanová, Libuše Lizcová,

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A partial nontandem duplication of the MLL gene in four patients with acute myeloid leukemia Iveta Šárová, Jana Březinová, Zuzana Zemanová, Libuše Lizcová, Adéla Berková, Silvia Izáková, Eva Malinová, Ota Fuchs, Arnošt Kostečka, Dana Provazníková, Jitka Filkuková, Jacqueline Maaloufová, Jan Starý, Kyra Michalová Cancer Genetics and Cytogenetics Volume 195, Issue 2, Pages 150-156 (December 2009) DOI: 10.1016/j.cancergencyto.2009.05.008 Copyright © 2009 Elsevier Inc. Terms and Conditions

Fig. 1 Exon–intron structure of the wild-type MLL gene involved in tandem and nontandem duplications, with localization of the fluorescence in situ hybridization (FISH) probe and the primers used in the first and the second polymerase chain reaction (PCR). The nomenclature according to GenBank NM_005933.2 was used in this work. (Some earlier reports on MLL and GenBank Accession No. NM_005933.2 for MLL mRNA used different numbering of exons [6,31], and we therefore compared these nomenclatures for exon numbering.) The MLL gene as a whole contains 36 or 37 exons, according to the different nomenclatures. Cancer Genetics and Cytogenetics 2009 195, 150-156DOI: (10.1016/j.cancergencyto.2009.05.008) Copyright © 2009 Elsevier Inc. Terms and Conditions

Fig. 2 Patient 1: FISH analysis of the bone marrow cells using LSI MLL probe consisting of a 350-kb probe labeled in SpectrumGreen for the centromeric part and a 190-kb probe labeled in SpectrumOrange for the telomeric part. Metaphase FISH reveals the green signal of the MLL 5′end on the short arm of a partner chromosome and the orange signal of the MLL 3′ end on the derivative chromosome 11. Interphase FISH shows one fusion and one split signal. Cancer Genetics and Cytogenetics 2009 195, 150-156DOI: (10.1016/j.cancergencyto.2009.05.008) Copyright © 2009 Elsevier Inc. Terms and Conditions

Fig. 3 Schematic of MLL partial nontandem duplication in (A) patient 1, (B) patient 2, (C) patient 3, and (D) patient 4. Cancer Genetics and Cytogenetics 2009 195, 150-156DOI: (10.1016/j.cancergencyto.2009.05.008) Copyright © 2009 Elsevier Inc. Terms and Conditions

Fig. 4 Partial nontandem duplication cDNA and protein sequences corresponding to the fusion regions of MLL and three different partner genes. Gray shading indicates the partner gene. (A) Patients 1 and 4: MLL–MLLT10. (B) Patient 2: MLL–MLLT3. (C) Patient 3: MLL–MLLT1. Cancer Genetics and Cytogenetics 2009 195, 150-156DOI: (10.1016/j.cancergencyto.2009.05.008) Copyright © 2009 Elsevier Inc. Terms and Conditions

Fig. 5 Multicolor FISH karyogram of patient 4 verified the karyotype as 46,XY,der(10)ins(10;11)(p12;q23.3q23.1),der(11) ins(10;11)del(11)(q22.1q23.1). Cancer Genetics and Cytogenetics 2009 195, 150-156DOI: (10.1016/j.cancergencyto.2009.05.008) Copyright © 2009 Elsevier Inc. Terms and Conditions