Conventional cytogenetics and breakpoint distribution by fluorescent in situ hybridization in patients with malignant hemopathies associated with inv(3)(q21;q26) and t(3;3)(q21;q26)

Anticancer Research

Volumn 31, Issue 10, 2011, Pages 3441-3448

  De Braekeleer, Etienne ^a,b,c   Douet Guilbert, Nathalie ^a,b,c   Basinko, Audrey ^a,b,c   Bovo, Clément ^a,b   Guéganic, Nadia ^a,b   Le Bris, Marie Josée ^c   Morel, Frédéric ^a,b,c   De Braekeleer, Marc ^a,b,c  

^a FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^b INSERM   (France)

^c CHU MORVAN   (France)

Author keywords

Breakpoint distribution; Chromosomal abnormalities; Fluorescent in situ hybridization; Inv(3)(q21q26); t(3; 3)(q21; q26)

Indexed keywords

RIBOPHORIN I;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LEUKEMIA; ADULT; AGED; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CENTROMERE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL ARTICLE; CYTOGENETICS; ECOTROPIC VIRAL INTEGRATION SITE I GENE; ECOTROPIC VIRUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE OVEREXPRESSION; HUMAN; KARYOTYPE; MALE; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL;

CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 3; CYTOGENETICS; DNA PROBES; DNA-BINDING PROTEINS; FEMALE; HEMATOLOGIC NEOPLASMS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; PROTO-ONCOGENES; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 80054731670     PISSN: 02507005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Vardiman JW, Thiele J, Arber DA, Branning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A and Bloomfield CD: The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 114: 937-951, 2009.
2. Bitter MA, Neilly ME, Le Beau MM, Pearson MG and Rowley JD: Rearrangements of chromosome 3 involving bands 3q21 and 3q26 are associated with normal or elevated platelet counts in acute nonlymphocytic leukemia. Blood 66: 1362-1370, 1985. (Pubitemid 16194700)
3. Fonatsch C, Gudat H, Lengfelder E, Wandt H, Silling-Engelhardt G, Ludwig WD, Thiel E, Freund M, Bodenstein H and Schwieder G: Correlation of cytogenetic findings with clinical features in 18 patients with inv(3)(q21q26) or t(3;3)(q21;q26). Leukemia 8: 1318-1326, 1994.
4. Horsman DE, Gascoyne RD and Barnett MJ: Acute leukemia with structural rearrangements of chromosome 3. Leuk Lymphoma 16: 369-377, 1995.
5. Wieser R: Rearrangements of chromosome band 3q21 in myeloid leukemia. Leuk Lymphoma 43: 59-65, 2002.
6. Lugthart S, Groschel S, Beverloo HB, Kayser S, Valk PJ, Zelderen-Bhola SL, Jan OG, Vellenga E, van den Berg-de Ruiter, Schanz U, Verhoef G, Vandenberghe P, Ferrant A, Kohne CH, Pfreundschuh M, Horst HA, Koller E, Lilienfeld-Toal M, Bentz M, Ganser A, Schlegelberger B, Jotterand M, Krauter J, Pabst T, Theobald M, Schlenk RF, Delwel R, Dohner K, Lowenberg B and Dohner H: Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia. J Clin Oncol 28: 3890-3898, 2010.
7. Rubin CM, Larson RA, Anastasi J, Winter JN, Thangavelu M, Vardiman JW, Rowley JD and Le Beau MM: t(3;21)(q26;q22): a recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia. Blood 76: 2594-2598, 1990.
8. Bernstein R, Bagg A, Pinto M, Lewis D and Mendelow B: Chromosome 3q21 abnormalities associated with hyperactive thrombopoiesis in acute blastic transformation of chronic myeloid leukemia. Blood 68: 652-657, 1986. (Pubitemid 16008165)
9. Levy ER, Parganas E, Morishita K, Fichelson S, James L, Oscier D, Gisselbrecht S, Ihle JN and Buckle VJ: DNA rearrangements proximal to the EVI1 locus associated with the 3q21q26 syndrome. Blood 83: 1348-1354, 1994. (Pubitemid 24062858)
10. Yuasa H, Oike Y, Iwama A, Nishikata I, Sugiyama D, Perkins A, Mucenski ML, Suda T and Morishita K: Oncogenic transcription factor EVIl regulates hematopoietic stem cell proliferation through GATA-2 expression. EMBO J 24: 1976-1987, 2005. (Pubitemid 40896169)
11. Goyama S, Yamamoto G, Shimabe M, Sato T, Ichikawa M, Ogawa S, Chiba S and Kurokawa M: Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells. Cell Stem Cell 3: 207-220, 2008.
12. Goyama S and Kurokawa M: Pathogenetic significance of ecotropic viral integration site-1 in hematological malignancies. Cancer Sci 100: 990-995, 2009.
13. Morishita K, Parganas E, Matsugi T and Ihle JN: Expression of the Evi-1 zinc finger gene in 32Dc13 myeloid cells blocks granulocytic differentiation in response to granulocyte colonystimulating factor. Mol Cell Biol 12: 183-189, 1992.
14. Fears S, Mathieu C, Zeleznik-Le N, Huang S, Rowley JD and Nucifora G: Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family. Proc Natl Acad Sci USA 93: 1642-1647, 1996. (Pubitemid 26075179)
15. Suzukawa K, Parganas E, Gajjar A, Abe T, Takahashi S, Tani K, Asano S, Asou H, Kamada N, Yokota J, Morishita K and Ihle JN: Identification of a breakpoint cluster region 3′ of the ribophorin I gene at 3q21 associated with the transcriptional activation of the EVI1 gene in acute myelogenous leukemias with inv(3)(q21q26). Blood 84: 2681-2688, 1994.
16. Morishita K, Parganas E, William CL, Whittaker MH, Drabkin H, Oval J, Taetle R, Valentine MB and Ihle JN: Activation of EVI1 gene expression in human acute myelogenous leukemias by translocations spanning 300-400 kilobases on chromosome band 3q26. Proc Natl Acad Sci USA 89: 3937-3941, 1992.
17. Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C, van Putten WL, Valk PJ, van der Poel-van de Luytgaarde, Hack R, Slater R, Smit EM, Beverloo HB, Verhoef G, Verdonck LF, Ossenkoppele GJ, Sonneveld P, de Greef GE, Lowenberg B and Delwel R: High EVI 1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients. Blood 101: 837-845, 2003.
18. Zoccola D, Legros L, Cassuto P, Fuzibet JG, Nucifora G and Raynaud SD: A discriminating screening is necessary to ascertain EVI1 expression by RT-PCR in malignant cells from the myeloid lineage without 3q26 rearrangement. Leukemia 17: 643-645, 2003. (Pubitemid 36395663)
19. Lugthart S, van Drunen E, van Norden Y, van Hoven A, Erpelinck CA, Valk PJ, Beverloo HB, Lowenberg B and Delwel R: High EVI1 levels predict adverse outcome in acute myeloid leukemia: prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated. Blood 111: 4329-4337, 2008.
20. Arai S, Yoshimi A, Shimabe M, Ichikawa M, Nakagawa M, Imai Y, Goyama S and Kurokawa M: Evi-1 is a transcriptional target of MLL oncoproteins in hematopoietic stem cells. Blood 117: 6304-6314, 2010.
21. Groschel S, Lugthart S, Schlenk RF, Valk PJ, Eiwen K, Goudswaard C, van Putten WJ, Kayser S, Verdonck LF, Lubbert M, Ossenkoppele GJ, Germing U, Schmidt-Wolf I, Schlegelberger B, Krauter J, Ganser A, Dohner H, Lowenberg B, Dohner K and Delwel R: High EVI1 expression predicts outcome in younger adult patients with acute myeloid leukemia and is associated with distinct cytogenetic abnormalities. J Clin Oncol 28: 2101-2107, 2010.
22. Balgobind BV, Lugthart S, Hollink IH, Arentsen-Peters ST, van Wering ER, de Graaf SS, Reinhardt D, Creutzig U, Kaspers GJ, de Bont ES, Stary J, Trka J, Zimmermann M, Beverloo HB, Pieters R, Delwel R, Zwaan CM and van den Heuvel-Eibrink MM: EVI1 overexpression in distinct subtypes of pediatric acute myeloid leukemia. Leukemia 24: 942-949, 2010.
23. Fichelson S, Dreyfus F, Berger R, Melle J, Bastard C, Miclea JM and Gisselbrecht S: EVI-1 expression in leukemic patients with rearrangements of the 3q25-q28 chromosomal region. Leukemia 6: 93-99, 1992.
24. Soderholm J, Kobayashi H, Mathieu C, Rowley JD and Nucifora G: The leukemia-associated gene MDSI/EVI1 is a new type of GATA-binding transactivator. Leukemia 11: 352-358, 1997. (Pubitemid 27120983)
25. Langabeer SE, Rogers JR, Harrison G, Wheatley K, Walker H, Bain BJ, Burnett AK, Goldstone AH, Linch DC and Grimwade D: EVI1 expression in acute myeloid leukaemia. Br J Haematol 112: 208-211, 2001. (Pubitemid 32151172)
26. Wieser R, Volz A, Vinatzer U, Gardiner K, Jager U, Mitterbauer M, Ziegler A and Fonatsch C: Transcription factor GATA2 gene is located near 3q21 breakpoints in myeloid leukemia. Biochem Biophys Res Commun 273: 239-245, 2000. (Pubitemid 30426893)
27. Lahortiga I, Vazquez I, Agirre X, Larrayoz MJ, Vizmanos JL, Gozzetti A, Calasanz MJ and Odero MD: Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangements. Genes Chrom Cancer 40: 179-189, 2004. (Pubitemid 38714029)
28. Cheng T, Shen H, Giokas D, Gere J, Tenen DG and Scadden DT: Temporal mapping of gene expression levels during the differentiation of individual primary hematopoietic cells. Proc Natl Acad Sci USA 93: 13158-13163, 1996. (Pubitemid 26382786)
29. Tsai FY, Keller G, Kuo FC, Weiss M, Chen J, Rosenblatt M, Alt FW and Orkin SH: An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature 371: 221-226, 1994. (Pubitemid 24293019)
30. Rynditch A, Pekarsky Y, Schnittger S and Gardiner K: Leukemia breakpoint region in 3q21 is gene rich. Gene 193: 49-57, 1997. (Pubitemid 27303603)
31. Shimizu S, Suzukawa K, Kodera T, Nagasawa T, Abe T, Taniwaki M, Yagasaki F, Tanaka H, Fujisawa S, Johansson B, Ahlgren T, Yokota J and Morishita K: Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21). Genes Chrom Cancer 27: 229-238, 2000. (Pubitemid 30067451)
32. Wieser R, Volz A, Schnittger S, Jager U, Gruner H, Meran JG, Wimmer K, Ziegler A and Fonatsch C: Mapping of leukaemia-associated breakpoints in chromosome band 3q21 using a newly established PAC contig. Br J Haematol 110: 343-350, 2000. (Pubitemid 30646860)
33. Wieser R, Schreiner U, Pirc-Danoewinata H, Aytekin M, Schmidt HH, Rieder H and Fonatsch C: Interphase fluorescence in situ hybridization assay for the detection of 3q21 rearrangements in myeloid malignancies. Genes Chrom Cancer 32: 373-380, 2001. (Pubitemid 33055122)
34. Wieser R, Schreiner U, Rieder H, Pirc-Danoewinata H, Gruner H, Loncarevic IF and Fonatsch C: Interphase fluorescence in situ hybridization assay for the detection of rearrangements of the EVI1 locus in chromosome band 3q26 in myeloid malignancies. Haematologica 88: 25-30, 2003. (Pubitemid 36168851)
35. Madrigal I, Carrio A, Gomez C, Rozman M, Esteve J, Nomdedeu B, Campo E and Costa D: Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements. Cancer Genet Cytogenet 170: 115-120, 2006. (Pubitemid 44442462)
36. Poppe B, Dastugue N, Vandesompele J, Cauwelier B, De Smet B, Yigit N, de Paepe A, Cervera J, Recher C, De M, V, Hagemeijer A and Speleman F: EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements. Genes Chrom Cancer 45: 349-356, 2006. (Pubitemid 43346766)
37. Bobadilla D, Enriquez EL, Alvarez G, Gaytan P, Smith D and Slovak ML: An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies. Br J Haematol 136: 806-813, 2007. (Pubitemid 46348415)
38. De M, V, Vetter M, Mazzullo H, Howard JD, Betts DR, Nacheva EP, Apperley JF and Reid AG: A simple FISH assay for the detection of 3q26 rearrangements in myeloid malignancy. Leukemia 22: 434-437, 2008. (Pubitemid 351250552)
39. Shearer BM, Sukov WR, Flynn HC, Knudson RA and Ketterling RP: Development of a dual-color, double fusion FISH assay to detect RPN1/EVI1 gene fusion associated with inv(3), t(3;3), and ins(3;3) in patients with myelodysplasia and acute myeloid leukemia. Am J Hematol 85: 569-574, 2010.
40. ISCN (2009): An International System for Human Cytogenetic Nomenclature. Basel, S. Karger, 2009.
41. Sun J, Konoplev SN, Wang X, Cui W, Chen SS, Medeiros LJ and Lin P: De novo acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): a clinicopathologic and cytogenetic study of an entity recently added to the WHO classification. Mod Pathol 24: 384-389, 2011.
42. Medeiros BC, Kohrt HE, Arber DA, Bangs CD, Cherry AM, Majeti R, Kogel KE, Azar CA, Patel S and Alizadeh AA: Immunophenotypic features of acute myeloid leukemia with inv(3)(q21q26.2)/t(3;3)(q21;q26.2). Leuk Res 34: 594-597, 2010.
43. Testoni N, Borsaru G, Martinelli G, Carboni C, Ruggeri D, Ottaviani E, Pelliconi S, Ricci P, Pastano R, Visani G, Zaccaria A and Tura S: 3q21 and 3q26 cytogenetic abnormalities in acute myeloblastic leukemia: biological and clinical features. Haematologica 84: 690-694, 1999. (Pubitemid 29424403)
44. Haferlach C, Bacher U, Haferlach T, Dicker F, Alpermann T, Kern W and Schnittger S: The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently accompanied by alterations of the RUNXI, KRAS and NRAS and NF1 genes and mediates adverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML. Leukemia 25: 874-877, 2011.
45. Calmels B, Ferguson C, Laukkanen MO, Adler R, Faulhaber M, Kim HJ, Sellers S, Hematti P, Schmidt M, von Kalle C, Akagi K, Donahue RE and Dunbar CE: Recurrent retroviral vector integration at the Mds1/Evi1 locus in nonhuman primate hematopoietic cells. Blood 106: 2530-2533, 2005. (Pubitemid 41510830)
46. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Kramer A, Schwable J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Gohring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kuhlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C and Grez M: Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16: 198-204, 2010.
47. De Weer A, Poppe B, Vergult S, Van Vlierberghe P, Petrick M, De Bock R, Benoit Y, Noens L, de Paepe A, Van Roy N, Menten B and Speleman F: Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines. PLoS One 5: e8676, 2010.