Identification of a novel fusion gene involving RUNX1 and the antisense strand of SV2B in a BCR-ABL1-positive acute leukemia

Genes Chromosomes and Cancer

Volumn 52, Issue 12, 2013, Pages 1114-1122

  Giguère, Amélie ^a,b   Hébert, Josée ^a,b  

^a MAISONNEUVE ROSEMONT HOSPITAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; GLYCOPROTEIN IIB; HYBRID PROTEIN; IMATINIB; MESSENGER RNA; PROTEIN TYROSINE KINASE INHIBITOR; SYNAPTIC VESICLE GLYCOPROTEIN 2B; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; B CELL LEUKEMIA; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 21; CHROMOSOME WALKING; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; INTRON; LEUKEMIA CELL; LEUKEMOGENESIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 21; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA, ANTISENSE; FEMALE; FUSION PROTEINS, BCR-ABL; GENE DELETION; HUMANS; INTRONS; MEMBRANE GLYCOPROTEINS; NERVE TISSUE PROTEINS; ONCOGENE PROTEINS, FUSION; ORGANIC ANION TRANSPORTERS; PRECURSOR B-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROMOTER REGIONS, GENETIC; TRANSLOCATION, GENETIC;

EID: 84886279837     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22105     Document Type: Article

References (32)

1. Agerstam H, Lilljebjorn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T. 2007. Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer 46:635-643.
2. Balatzenko G, Guenova M, Kalinova I, Belcheva M, Hristozova H, Kaleva V. 2013. Simultaneous occurrence of ETV6-RUNX1 and BCR-ABL1 (e1a2) transcripts in a child with B-cell acute lymphoblastic leukemia. Cancer Genet 206:97-101.
3. Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, Kloosterman WP. 2012. Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees. Leukemia 26:2151-2154.
4. Challen GA, Goodell MA. 2010. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol 38:403-416.
5. Chen MJ, Yokomizo T, Zeigler BM, Dzierzak E, Speck NA. 2009. Runx1 is required for the endothelial to haematopoietic cell transition but not thereafter. Nature 457:887-891.
6. De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Ferec C, De Braekeleer M. 2011. RUNX1 translocations and fusion genes in malignant hemopathies. Future Oncol 7:77-91.
7. Eechoute K, Sparreboom A, Burger H, Franke RM, Schiavon G, Verweij J, Loos WJ, Wiemer EA, Mathijssen RH. 2011. Drug transporters and imatinib treatment: Implications for clinical practice. Clin Cancer Res 17:406-415.
8. Giguere A, Hebert J. 2010. CLCA2, a novel RUNX1 partner gene in a therapy-related leukemia with t(1;21)(p22;q22). Cancer Genet Cytogenet 202:94-100.
9. Giguere A, Hebert J. 2011. Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia. Genes Chromosomes Cancer 50:228-238.
10. Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, Bray-Ward P, Morgan E, Raimondi SC, Rowley JD, Gilliland DG. 1995. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 92:4917-4921.
11. Grossmann V, Kohlmann A, Klein HU, Schindela S, Schnittger S, Dicker F, Dugas M, Kern W, Haferlach T, Haferlach C. 2011. Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure. Leukemia 25:671-680.
12. Hu S, Franke RM, Filipski KK, Hu C, Orwick SJ, de Bruijn EA, Burger H, Baker SD, Sparreboom A. 2008. Interaction of imatinib with human organic ion carriers. Clin Cancer Res 14:3141-3148.
13. Ichikawa M, Asai T, Saito T, Seo S, Yamazaki I, Yamagata T, Mitani K, Chiba S, Ogawa S, Kurokawa M, Hirai H. 2004. AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. Nat Med 10:299-304.
14. International Standing Committee on Human Cytogenetic Nomenclature, Shaffer LG, Slovak ML, Campbell LJ. 2009. ISCN 2009: An international system for human cytogenetic nomenclature (2009). Basel, Unionville, CT: Karger, vi, 138, 131 folded leave p.
15. Levanon D, Groner Y. 2004. Structure and regulated expression of mammalian RUNX genes. Oncogene 23:4211-4219.
16. Ley T, Miller C, Ding L, Raphael B, Mungall A, Robertson A, Hoadley K, Triche TJ, Laird P, Baty J, Fulton L, Fulton R, Heath S, Kalicki-Veizer J, Kandoth C, Klco J, Koboldt D, Kanchi K, Kulkarni S, Lamprecht T, Larson D, Lin L, Lu C, McLellan M, McMichael J, Payton J, Schmidt H, Spencer D, Tomasson M, Wallis J, Wartman L, Watson M, Welch J, Wendl M, Ally A, Balasundaram M, Birol I, Butterfield Y, Chiu R, Chu A, Chuah E, Chun H, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt R, Jones S, Karsan A, Lee D, Li H, Marra M, Mayo M, Moore R, Mungall K, Parker J, Pleasance E, Plettner P, Schein J, Stoll D, Swanson L, Tam A, Thiessen N, Varhol R, Wye N, Zhao Y, Gabriel S, Getz G, Sougnez C, Zou L, Leiserson M, Vandin F, Wu H, Applebaum F, Baylin S, Akbani R, Broom B, Chen K, Motter T, Nguyen K, Weinstein J, Zhang N, Ferguson M, Adams C, Black A, Bowen J, Gastier-Foster J, Grossman T, Lichtenberg T, Wise L, Davidsen T, Demchok J, Shaw K, Sheth M, Sofia H, Yang L, Downing J, Eley G, Alonso S, Ayala B, Baboud J, Backus M, Barletta S, Berton D, Chu A, Girshik S, Jensen M, Kahn A, Kothiyal P, Nicholls M, Pihl T, Pot D, Raman R, Sanbhadti R, Snyder E, Srinivasan D, Walton J, Wan Y, Wang Z, Issa J, Le Beau M, Carroll M, Kantarjian H, Kornblau S, Bootwalla M, Lai P, Shen H, Van Den Berg D, Weisenberger D, Link D, Walter M, Ozenberger B, Mardis E, Westervelt P, Graubert T, DiPersio J, Wilson R. 2013. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368:2059-2074.
17. Liu X, Zhang Q, Zhang DE, Zhou C, Xing H, Tian Z, Rao Q, Wang M, Wang J. 2009. Overexpression of an isoform of AML1 in acute leukemia and its potential role in leukemogenesis. Leukemia 23:739-745.
18. Maki K, Yamagata T, Mitani K. 2008. Role of the RUNX1-EVI1 fusion gene in leukemogenesis. Cancer Sci 99:1878-1883.
19. Maki K, Sasaki K, Sugita F, Nakamura Y, Mitani K. 2012. Acute myeloid leukemia with t(7;21)(q11.2;q22) expresses a novel, reversed-sequence RUNX1-DTX2 chimera. Int J Hematol 96:268-273.
20. Mullighan CG, Miller CB, Radtke I, Phillips LA, Dalton J, Ma J, White D, Hughes TP, Le Beau MM, Pui CH, Relling MV, Shurtleff SA, Downing JR. 2008. BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature 453:110-114.
21. Murga Penas EM, Cools J, Algenstaedt P, Hinz K, Seeger D, Schafhausen P, Schilling G, Marynen P, Hossfeld DK, Dierlamm J. 2003. A novel cryptic translocation t(12;17)(p13;p12-p13) in a secondary acute myeloid leukemia results in a fusion of the ETV6 gene and the antisense strand of the PER1 gene. Genes Chromosomes Cancer 37:79-83.
22. Nambu T, Hamada A, Nakashima R, Yuki M, Kawaguchi T, Mitsuya H, Saito H. 2011. Association of SLCO1B3 polymorphism with intracellular accumulation of imatinib in leukocytes in patients with chronic myeloid leukemia. Biol Pharm Bull 34:114-119.
23. Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR. 1996. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84:321-330.
24. Roche-Lestienne C, Deluche L, Corm S, Tigaud I, Joha S, Philippe N, Geffroy S, Lai JL, Nicolini FE, Preudhomme C. 2008. RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance. Blood 111:3735-3741.
25. Schiffer R, Neis M, Holler D, Rodriguez F, Geier A, Gartung C, Lammert F, Dreuw A, Zwadlo-Klarwasser G, Merk H, Jugert F, Baron JM. 2003. Active influx transport is mediated by members of the organic anion transporting polypeptide family in human epidermal keratinocytes. J Invest Dermatol 120:285-291.
26. Solari L, Bauer T, Dicker F, Haferlach C, Griesshammer M, Schnittger S, Becker H, Lubbert M. 2013. A novel recurrent AML1-ETO fusion: Tight in vivo association with BCR-ABL1. Leukemia 27:1397-1400.
27. Swerdlow SH, International Agency for Research on Cancer, World Health Organization. 2008. WHO classification of tumours of haematopoietic and lymphoid tissues, 4th ed. Lyon, France: International Agency for Research on Cancer, p. 439.
28. Thomas J, Wang L, Clark RE, Pirmohamed M. 2004. Active transport of imatinib into and out of cells: Implications for drug resistance. Blood 104:3739-3745.
29. Tsuzuki S, Seto M. 2012. Expansion of functionally defined mouse hematopoietic stem and progenitor cells by a short isoform of RUNX1/AML1. Blood 119:727-735.
30. Tsuzuki S, Hong D, Gupta R, Matsuo K, Seto M, Enver T. 2007. Isoform-specific potentiation of stem and progenitor cell engraftment by AML1/RUNX1. PLoS Med 4:e172.
31. Wan QF, Zhou ZY, Thakur P, Vila A, Sherry DM, Janz R, Heidelberger R. 2010. SV2 acts via presynaptic calcium to regulate neurotransmitter release. Neuron 66:884-895.
32. Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, Speck NA. 1996. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci U S A 93:3444-3449.