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Identification of Nine Chromosomal Segments with Jumping Translocation in 564 Human Leukemia and Lymphomas


Affiliations
1 Department of Radiobiology, Institute for Environmental Sciences, Hachazawa 2-121, Takahoko, Kamikita, Aomori 039-3213, Japan
 

In order to identify the chromosome regions with segmental jumping translocation (SJT) that will be associated with gene amplification, 564 leukemia, malignant lymphoma and other hematological disease patients with highly complex karyotype were studied by both inter-phase and metaphase fluorescent in situ hybridization (FISH). Specific chromosome regions translocated onto structurally abnormal chromosomes, resulting in partial tri-, tetra-, or pentasomy of these regions. These SJTs were found in 9 chromosomal segments such as 8q24, 9q34, 11q13, 11q23, 13q14, 14q24-q32, 17p12, 21q22 and 22q11 indicating that SJT is not rare cytogenetic events in leukemia and lymphoma with complex chromosome aberrations. SJT at 8q24, 11q13, 14q24-32 and 21q22 were predominantly detected in 17.6% of AML, 46.1% of non-Hodgkin's lymphoma (NHL), 29.6% of acute type of adult T-cell leukemia and 16.6% of AML. In total, 10.7% of 564 leukemia and lymphoma patients, including 43 analyzed patients on no SJTs at 5q34 and 20q11.2 had either one or two of the 9 SJTs. 3-7 copies of SJTs per a metaphase were observed at 11q13 and 11q23. Protein expression levels of MYC were well correlated with amplified MYC signals in NHL patients. The SJT provides evidence of mechanism for formation of unidentified marker chromosomes as well as for the development of the advanced disease stage.

Keywords

Chromosome, Gene Amplification, FISH, Leukemia, Malignant Lymphoma
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  • Andersen MK, Christiansen DH, Kirchhoff M and Pedersen-Bjergaard J (2001) Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy-related MDS and AML, and is closely related to mutation of the TP53 gene and to previous therapy with alkylating agents. Genes Chrom. Cancer. 31, 33-41.
  • Arif M, Tanaka T, Chendil D, Aso H, Kyo T, Dohy H and Kamada N (1996) Hidden monosomy 7 in acute myeliod leukemia and myelodysplastic syndorome detected by interphase fluorescence in situhybridization. Leuk. Res. 20, 709-716.
  • Ballif BS, Wakui K and Shaffer LG (2004) Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminalrearrangement. Hum. Genet. 114,198-206.
  • Bea S, Ribas M, Herna JM, Bosch F, Pinyol M, Herna L, Garcia JL, Florea T, Gonzalez M, Lopez-Guillermo A, Piris MA, Cardesa A, Montserrat E, Miro R and Campo E (1999) Increased number of chromosomal imbalances and high-level DNA amplifications in mantle cell lymphoma are associated with blastoid variants. Blood. 93, 4365-4374.
  • Bentz M, Kohner H, Huck K, Schuz B, Ganser A, Joos S, du Manoir S and Lichter SP (1995) Comparative genomic hybridization in the investigation of myeloid leukemias. Genes Chrom. Cancer. 12, 193-200.
  • Berger R and Bernard O (2007) Jumping Translocations. Genes Chrom. Cancer. 46, 717-723.
  • Bernard M, lemee F, Picard F, Ghandour C, Drenou B, Le Prise PY, and Lamy T (2000) Jumping translocation in acute leukemia of myelomonocytic lineage: a case report and review of the literature. Leukemia. 14, 119-122.
  • Brown LA, Kalloger SE, Miller MA, Shi I-M, McKinney SE, Santos JL, Swenerton I, Spellman PT, Gray J, Gilkis CB and Humtsman, DG (2008) Amplification of 11q13 in ovarian carcinoma. Genes Chrom. Cancer. 47, 353-362.
  • Busson-Le M, Salomon-Nguyen F, Dastugue N, Maarek O, Lafage-Pochitaloff M, Mozziconacci M-J, Baranger F, Brizard I, Radford M and Jeanpierre OA (1999) Fluorescence in situ hybridization of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite and newrecurrent translocation. Leukemia. 13, 1965-1981.
  • Darai-Ramqvist E, Sandlund A, Muller S, Klein G, Imreh S and Kost-Alimova M (2008) Segmental duplications and evolutional plasticity at tumor chromosome break-prone regions. Genome Res. 18, 370-379.
  • De Oliveira FM, Lucena-Araujo AR, Leite-Cueva SD, Santos GAS, Rego EM and Falcao R (2010) Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype. Cancer Genet. Cytogenet. 198, 62-65.
  • Dierlamm J, Rosenverg C, Stule M, Pittalunga S, Wlodarska I, Michaux I, Dehaen M, Verhoef G, Tohomas J, de Kelver W, Baker-Schut T, Cassiman JJ, Raap AK, DeWorf-Peeters C, van den Berghe H and Hagemeijer A (1997) Characteristic pattern of chromosomal gains and losses in marginal zone B cell lymphoma detected by comparative genomic hybridization. Leukemia. 11, 747-758.
  • Emi M, Takahashi E, Kayama K, Okui K and Nakamura Y (1992) Isolation and mapping of 88 new RFLP markers on human chromosome 8: construction of high-resolution cytogenetic map of chromosome 8 with 416 markers. Genomics. 13, 1261-1266.
  • Fan YS, Rizkalla K, William BF and Engel CJ (2000) Jumping translocations of 11q in acute myelomococytic leukemia and 1q in follicular lymphoma. Cancer Genet. Cytogenet. 118,35-41.
  • Felix CA, Megonigal MD, Chervinsky DS, Leonard DGB, Tsuchida N, Kakati S, Marie A, Block W, Fisher J, Grossi M, Salhany KI, Jani-Sait SN and Aplan, PD (1998) Association of germline p53 mutation with MLL segmental jumping translocation in treatment-related leukemia. Blood. 91, 4451-4456.
  • Guann XY, Meltzer PS, W.S, Dlton WS and Trent JM (1994) Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection. Nature Genet. 8, 155-161.
  • Haltrich I, Kost-Alimova M, Krivan G, Tamaska J, Kelin G and Imreh S (2006) Jumping translocation of 17q11 approximately qter and 3q25 approximately q28 duplication in a variant Philadelphia t(9;14;22)(q34;q32;q11) in a childhood chronic myelogenous leukemia. Cancer Genet. Cytogenet. 164, 74-80.
  • Hatakeyama S, Fujita K, Mori H, Omine M, Ishikawa F (1998) Shortened telomeres involved in a case with jumping translocation at 1q21. Blood. 91, 1514-1519.
  • Hatakeyama S, Osawa M, Omine M and Ishikawa F (1999) JTB; a novel membrane protein gene at 1q21 rearranged in a jumping translocation. Oncogene. 18, 2085-2090.
  • Hori T, Takahashi E and Tanigami A (1992) A high resolution cytogenetic map of 168 cosmid DNA markers for human chromosome 11. Genomics. 13, 129-133.
  • ISCN (2005) Guidelines for Cancer Cytogenetics Nomenclature, Mitelman F (ed), Karger, Basel.
  • Jamet D, Marzin Y, Douet-Guilbert N, Morel F, Herry MJ, Banzakour S, Bourquard P, Morice P, Abgrall JF, Berthou C and de Braekeleer M (2005) Jumping translocations in multiple myeloma. Cancer Genet. Cytogenet. 161, 159-163.
  • Kobayashi H, Arai Y, Hosoda F, Maseki N, Hayashi Y, Eguchi H, Ohki M and Kaneko Y.(1997) Inversion of chromosome 11, inv(11)(p15q22), as a recurring chromosomal aberration associated with de novo and secondary myeloid malignancies: identification of a P1 clone spanning the 11q22 breakpoint. Genes Chrom. Cancer. 19, 150-155.
  • Kumaravel TS, Tanaka K, Kyo T, Dohy H and Kamada N (2008) Hidden genetic or chromosomal alterations in patients with acute myeloid leukemia showing a cytogentically normal karyotype. Chrom. Sci. 11, 53- 60.
  • Le Coniat M, Romna SP and Berger R (1995) Partial chromosome 21 amplification in a child with acute lymphoblastic leukemia. Genes Chrom. Cancer. 14, 204-209.
  • Linardopoulou EV, Williams EM, Fan YF, Friedman C, Young JM and Trask BJ (2005) Human subtelomeres are hot spots of interchromosomla recombination and interchromosomal recombination and segmental duplication. Nature. 437, 94-100.
  • Manola KN, Georgakakos VN, Stavropoulou C, Spyridondis A, Angelopoulou MK, Katsigannis A, Rpussou P, Pantelias GE and Saambani,C (2008) Jumping translocations I hematological malignancies: a cytogenetic study of five cases. Cancer Genet. Cytogenet. 187, 85-94.
  • Michaux L, Wlodarska I, Stul M, Dierlamm J, Mugneret F, Herens C, Beverloo B, Verherst A, Verellen- Dumoulin C, Verhoef G, Selleslag D, Madoe V, Lecomte M, Deprijck B, Ferrant A, Delannoy A, Marichal S, Duhem C, Dicato M and Hagemeijer A (2000) MLL amplification in myeloid leukemias: a study of 14 cases with multiple copies of 11q23. Genes Chrom. Cancer. 29, 40-47.
  • Nagai M, Fujita, M, Ikeda T, Kuwabara H, Tanaka K, Kamada N, Taniwaki M, Inoue T, Irino S and Takahara J (1997) Alteration of p53, and Rb genes in a novel human GM-CSF dependent myeloid cell line (OHNGM) Establishment from therapy-related leukemia. Br. J. Heamatol., 98, 392-398.
  • Nakanishi M, Tanaka K, Shintani T, Takahashi T and Kamada N (1999) Chromosomal instability in acute myelocytic leukemia and myelodystic syndrome painting among atomic bomb survivors. J. Radiat. Res. 40, 159-167.
  • Nordgren A, Heyman M, Sahlen M, Schoumans J, Soderhall J, Nordenskjold M and Blennow E (2002) Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional Gbanding. Implications for treatment stratification of childhood acute lymphoblastic leukemia: detailed analysis of 70 cases. Eur. J. Hematol. 68, 34-41.
  • Rebollo R, Horard B, Hubert B and Vieira C (2010) Jumping genes and epigenetics: towards new species. Gene, 454, 1-7.
  • Reddy KS, Parsons L, Wang S, Mak L, Dighe P and Yu TL (2000) FISH analysis of an AML-M5a with segmental rearrangements involving 11q23-MLL region. Cancer Genet. Cytogenet. 118, 48-51.
  • Reddy KS, Parsons L, Mark L, Dighe P, Saphener T, Crow MK and Scott M (2001) Segmental amplification of 11q23region identified by fluorescence in situ hybridization in four patients with myeloid disorders: a review. Cancer Genet. Cytogenet. 126, 139-146.
  • Sakashita A, Konayashi H, Satake N, Naseki N, Sakurai M and Izumo T, Isobe M and Kaneko Y (1998) Amplification of the Tcl1 flanking region at 14q32.1 with no TCL gene transcription in a T.L patients with peripheral T cell lymphoma. Leukemia. 12, 970-971.
  • Sankar M, Tanaka K, Arif A, Shintani, T, Kumaravel TS, Kyo T, Dohy H and Kamada N (1998) Isodicentric chromosome 21: A novel aberration in acute myeloid leukemia. Cancer Genet. Cytogenet. 107, 69-72.
  • Shikani T, Arioka HR, Kobayashi H, Nito Y and Ishikawa F (1993) Jumping translocations of 1q in Burkitt lymphoma and acute nonlymphocytic leuikemia. Cancer Genet Cytogent. 71, 22-26.
  • Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K and Lupski JR (2003) The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 101, 118-123.
  • Strefford JC, van Delft FW, Robinson HM, Worley H, Yiannikousris O, Selzer R, Richmond T, Hann I, Bellotti, T, Raghvan M, Young BD, Saha V and Harrison CJ (2006) Complex genomic alterations and gene expression in acute lymophocytic leukemia with intrachromosomal amplification of chromosome 21. Proc. Natl. Acad. Sci. USA. 103, 8167-8172.
  • Tan DK, Zhu Y, Tan HK, Rajaseraran V, Aggarwal A, Wu J, Wu HY, Hwang J, Lim DTH, Soo KC and Tan P (2008) Amplification and overexpression of PPFI, a putative 11q13 invasion suppressor gene, in head and neck squamous cell carcinoma. Genes Chrom. Cancer. 47, 353-362.
  • Tanaka K, Arif M, Eguchi M, Kyo T, Dohy H and Kamada N (1997) Frequent jumping translocations of chromosome segments involving the ABL oncogene alone or in combination with CD3-MLL gene in secondary leukemia. Blood. 89, 596-600.
  • Tanaka K and Kamada N (1998) Segmental jumping translocation in leukemia and lymphoma with a highly complex karyotype. Leukemia and Lymphoma. 29, 563-575.
  • Tanaka K, Arif M, Kyo T, Dohy H and Kamada N (2000) Transposition of duplicated chromosomal segment involving fused BCR-ABL gene or ABL oncogene alone in chronic myelocytic leukemia and Ph chromosome-positive acute leukemia with complex karyotypes. Cancer Genet. Cytogenet. 119, 8-14.
  • Tanaka K, Eguchi M, Eguchi-Ishimae M, Hasegawa A, Ohgami A, Kikuchi M, Kyo T, Asaoku H, Dohy H and Kamada N (2001) Restricted chromosome breakpoint sites on 11q22-23.1 and 11q25 in various hematological malignancies without MLL/ALL-1 gene rearrangement. Cancer Genet. Cytogenet. 124, 27-35.
  • Tanaka K, Asaoku H, Kyo T and Kamada N (2012) Higher involvement of subtelomere regions for chromosome rearrangements in leukemia and lymphoma and in irradiated leukemic cell cine Indian J. Sci. Technol. 5(1), 1801-1811.
  • Tsukasaki K, Krebs JK, Nagai K, Tomonaga M, Koeffler HP, Bartram DR and Jauch A (2001) Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course. Blood. 97, 3875-3881.

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  • Identification of Nine Chromosomal Segments with Jumping Translocation in 564 Human Leukemia and Lymphomas

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Authors

Kimio Tanaka
Department of Radiobiology, Institute for Environmental Sciences, Hachazawa 2-121, Takahoko, Kamikita, Aomori 039-3213, Japan

Abstract


In order to identify the chromosome regions with segmental jumping translocation (SJT) that will be associated with gene amplification, 564 leukemia, malignant lymphoma and other hematological disease patients with highly complex karyotype were studied by both inter-phase and metaphase fluorescent in situ hybridization (FISH). Specific chromosome regions translocated onto structurally abnormal chromosomes, resulting in partial tri-, tetra-, or pentasomy of these regions. These SJTs were found in 9 chromosomal segments such as 8q24, 9q34, 11q13, 11q23, 13q14, 14q24-q32, 17p12, 21q22 and 22q11 indicating that SJT is not rare cytogenetic events in leukemia and lymphoma with complex chromosome aberrations. SJT at 8q24, 11q13, 14q24-32 and 21q22 were predominantly detected in 17.6% of AML, 46.1% of non-Hodgkin's lymphoma (NHL), 29.6% of acute type of adult T-cell leukemia and 16.6% of AML. In total, 10.7% of 564 leukemia and lymphoma patients, including 43 analyzed patients on no SJTs at 5q34 and 20q11.2 had either one or two of the 9 SJTs. 3-7 copies of SJTs per a metaphase were observed at 11q13 and 11q23. Protein expression levels of MYC were well correlated with amplified MYC signals in NHL patients. The SJT provides evidence of mechanism for formation of unidentified marker chromosomes as well as for the development of the advanced disease stage.

Keywords


Chromosome, Gene Amplification, FISH, Leukemia, Malignant Lymphoma

References





DOI: https://doi.org/10.17485/ijst%2F2012%2Fv5i4%2F30414