Refine your search
Collections
Co-Authors
Year
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z All
Shintani, Takahiro
- High Incidence of Loss of RARA-PML Chimeric Gene of Acute Myelocytic Leukemia M3 with Simple or Complex 15;17 Translocation
Abstract Views :547 |
PDF Views:102
Authors
Affiliations
1 Department of Radiobiology, Institute for Environmental Sciences, Hachazawa 2-121, Takahoko, Rokkasho, Kamikita, Aomori 019-3213, JP
2 Department of Cancer Cytogenetics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Minamiki-ku, Hiroshima 734-8552, JP
3 Radiation Hazards Research Group, National Institute for Radiological Sciences, Anagawa 4-9-1, Chiba 263-8555, JP
4 Fourth Department of Internal Medicine, Hiroshima Red Cross Hospital, Senda-machi, 1-9-6, Minami-ku, Hiroshima 739-1743, JP
5 Hiroshima Atomic Bomb Relief Foundation, 50-1, 3 Chome Asakita-ku, Hiroshima 739-1743, JP
1 Department of Radiobiology, Institute for Environmental Sciences, Hachazawa 2-121, Takahoko, Rokkasho, Kamikita, Aomori 019-3213, JP
2 Department of Cancer Cytogenetics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Minamiki-ku, Hiroshima 734-8552, JP
3 Radiation Hazards Research Group, National Institute for Radiological Sciences, Anagawa 4-9-1, Chiba 263-8555, JP
4 Fourth Department of Internal Medicine, Hiroshima Red Cross Hospital, Senda-machi, 1-9-6, Minami-ku, Hiroshima 739-1743, JP
5 Hiroshima Atomic Bomb Relief Foundation, 50-1, 3 Chome Asakita-ku, Hiroshima 739-1743, JP
Source
Indian Journal of Science and Technology, Vol 5, No 9 (2012), Pagination: 3229-3240Abstract
Acute myelocytic leukemia (AML), French-American-British (FAB) classification M3 contains variable clinical disease. About 90% of the AMLM3 has specific reciprocal chromosome translocation between chromosomes15 and 17, which resulted in PML-RARα and RARα-PML chimeric genes. We analyzed 39 AMLM3 patients who showed typical clinical M3 symptoms, with simple or complex 15;17 translocation or not, by metaphase and interphase fluorescence in situ hybridization (FISH) methods using both of PML-RARα and RARα-PML chimeric probes or reverse transcriptase PCR of PML-RARα chimeric gene. Thirty-one patients reported positive for PML-RARα gene while eight patients did not. Of interest, 6 of the 31 PML-RARα positive AMLM3 patients (19.4%) did not show RARα-PML chimeric signal, which was considered to be the cases having the deletion of the region locating RARα-PML chimeric gene on der (17) chromosome either after or at the same time of formation of simple 15;17 translocation. Out of 6, 2 patients had complex 15;17 translocation of t(3;15;17) and ins(15;17). Two-way translocation model might be more acceptable to show the mechanisms for formation of complex 15;17 translocation and insertion 15;17 where insertion of a region of chromosome 17 involving RARα into PML region of chromosome 15. These precise FISH analysis also revealed that AMLM3 acquired variable chromosomal instabilities such as deletion of RARα gene and segmental jumping translocation following 15;17 translocation and the FISH analysis will be applicable for classification of AMLM3.Keywords
15, 17 Chromosomal Translocation, Acute Myelocytic Leukemia (AML), Acute Promyelocytic Leukemia (APL), Chromosome Instability, PML, RARα, FISHReferences
- Amare PK, Baisane C, Nair R, Menon H, Banavali S, Kabre S, Gujrai S and Subramaniam P (2011) Characterization of cryptic rearrangements, deletion, complex variants of PML, RARA in acute promyelocytic leukemia. Ind. J. Hum. Genet. 17(2), 54-58.
- Asleson AD, Morgan V, Smith S and Velagaleti GV (2010) Amplification of the RARA gene in acute myeloid leukemia: significant finding or coincidental observation? Cancer Genet. Cytogenet. 202(1), 33- 37.
- Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR and Willman CL (2000) Hypergranular promyelocytic leukemia: correlation between morphology and chromosomal translocation including t(15;17) and t(11;17). Leukemia. 14(7), 1197-1200.
- Bjerrum OW, Philip P, Pressler T and Tygstrup I (1987) Acute promyelocytic leukemia with t(15;17) and t(2;15;17).Cancer Genet. Cytogenet. 28(1), 107- 111.
- Brown D, Kogan S, Lagasse E, Weissman I, Alcalay M, Pelicci PG, Atwater S and Bishop JM (1997) A PML/RARa transgene initiates murine acute promyelocytic leukemia. Proc. Natl. Acad. Sci., USA, 94(6), 2551-2536.
- Brunel V, Lafage-Pochitaloff M, Alealay M, Pelicci PG and Birg F (1996) Variant and masked translocations in acute promyleocytic leukemia. Leuk. Lymphoma. 22(3-4), 221-228.
- Burnett AK, Grimwade D, Solomon E, Wheatley K and Goldstone AH (1999) Presenting white blood cell count and kinetics of molecular remission predict prognosis in acute promyleocytic leukemia treated with All-Trans Retinoic Acid: Result of the randomized MRC trial. Blood. 93(12), 4131-4143.
- Calabrese G, Stuppia TMI, Powles R, Swanbury JG, Morizio E, Peila R, Donti E, Fioritoni G and Palka G (1996) Complex chromosome translocations of standard t(8;21) and t(15;17) arise from a two-step mechanism as evidence by fluorescence in situ hybridization analysis. Cancer Genet. Cytogenet. 91(1), 40-45.
- Dong S and Tweardy DJ (2002) Interactions of STAT5b-RARalpha, a novel acute promyelocytic leukemia fusion protein, with retinoic acid receptor and STAT3 signaling pathways. Blood. 99(8), 2637- 2646.
- Grignani F and Pelicci PG (1996) Pathogenetic role of the PML-RARafusion protein in acute promyelocytic leukemia. Curr. Top. Microbiol. Immunol. 211, 269-278.
- Grimwade D, Howe K, Langabeer S, Davies L, Oliver F, Walker H, Swirsky D, Whearley K, Goldstone A, Burnett A and Solomon E (1996) Establishing the presence of the t(15;17) in suspected acute promyelocytic leukemia: Cytogenetic molecular and the PML immunofluorescence assessment of patients entered into the M.R.C.ATRA trial. MRC. Adult Leukemia Working Party. Br. J. Heamtol. 94(3), 557- 573.
- Grimwade D, Gorman P, Duprez E, Howe K, Langabeer S, Oliver F, Waker H, Culligan D, Waters J, Pomfret M, Goldstone A, Burnett A, Freemont P, Sheer D and Solomon E (1997) Characterization of cryptic rearrangements and variant translocations in acute promyelocytic leukemia. Blood. 90(12), 4876- 4885.
- Grimwade D, Biondi A, Mozziconacci MJ, Hagemeijer A, Berger R, Neat M, Howe K, Dastugue N, Jansen J, Radford-Weiss I, Francesco Lo C, Lessard M, Hernandez JM, Delabesse E, Head D, Liso V, Sainty D, Flandrin G, Solomon E, Birg F and Laffage- Pochitaloff M (2000) Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17): results of the European Working Party. Group Français de Cytogénétique Hématologigue, Group de Françaisd’Hematologie Celllarie, UK Cancer Cytogenetics Group and BIOMED 1 Europoian community-concerted action molecular cytogentic diagnosis in haematological malignancies. Blood. 96(4), 1297-1308.
- Gogineni SK, Shah HO, Lin JH, Garrison M, Alidina A,Bayani E and Verma RS (1998) Variant complex translocations involving chromosomes 1, 9, 9, 15 and 17 in acute promyelocytic leukemia without RARa/PML gene fusion rearrangement. Leukemia. 11(4), 514-518.
- Gu BW, Xiong H, Zhou Y, Chen B, Wang L, Dong S, Yui ZY, Lu LF, Zhong M, Yin HF, Zhu GF, Huang W, Xi Ren S, Gallagher RE, Waxman S, Chen GQ, Wang ZG, Chen Z and Chen SJ (2002) Variant-type PML-RARa fusion transcript in acute promyelocytic leukemia: useof a cryptic coding sequence from intron 2 of the RARa gene and identification of a new clinical subtype resistance to retinoic acid therapy. Proc. Natl. Acad. Sci., USA , 99(11), 7640-7645.
- Haferlach T, Kohlmann A, Schnittger S, Dugas M, Hideemann W, Kem W and Schoch C (2005) AML M3 and M3 variant each have a distinct gene expression signature but also share patterns different from other genetically defined AML subtypes. Genes Chrom. Cancer. 43(2), 113-127.
- Haraguchi K, Ohno N, Tokunaga M, Tokunaga M, Itoyama Tm Gotoh M, Taniwaki M and Tubouchi H (2008) Masked t(15;17) APL with the insertion of PML-RARalpha fusion gene in 4q21. Leuk. Res. 33(11), 1552-1555.
- Hasen SK, Mays AN, Ottone T, Ledda A, La Nasa G, Gattaneo C, Borlenghi E, Melilo L, Montefusco E, Cervera J, Stephen C, Satchi G, Lennard A, Libura M, BylJA, Osheroff N, Amador S, Felix CA, Voso MT, Sperr WR, Esteve J, Sanz MA, Grimwade D and LCoco F (2008) Molecular analysis of t(15;17) genomic breakpoints in secondary acute promyelocytic leukemia arising after treatment of multiple sclerosis. Blood. 112(8), 3383-3390.
- Hiorns LR, Min T, Sansbury GJ, Zelent A, Dyer MJS and Catovsky D (1994) Interstitial insertion of retinoic acid receptor-agene in acute promyelocytic leukemia with normal chromosomes 15 and 1. Blood. 83(10), 2946-2951.
- Hofmann TG and Will H (2003) Body langage; the function of PML nuclear bodies in apoptosis regulation. Cell Death Differ. 10(12), 1290-1299.
- Huang Y, Hou JK, Chen TT, Zhao -Y, Yan ZW, Zhang J, Yang J, Kogan SC and Chen GQ (2011) PMLRARa enhances constitutive autophagic activity through inhibiting the akt/mTOR pathway. Autophagy. 7(10), 1132-1144.
- Huntly BJ, Reid AG, Bench AJ, Campbell LJ, Telford N, Shepherd P, Szer J, Prince HM, Kamal NR, Curtis K, Hanson CA and Dewald GW (1996) Acute promyelocytic leukemia with t(15;16;17;19) and unusual fluorescence in situ hybridization pattern with PML, and RARa probes. Cancer Genet. Cytogenet. 92, 54-57.
- ISCN (2005) An international system for human cytogenetic nomenclature (2005). (ed. L.G. Shaffer and N. Tommerup), Cytogenetics & Genome Res., Karger, Basel.
- Kim MJ, Yoon HS, Cho SY, Lee HJ, Suh JT, Lee J, Yoon HJ, Lee WI and Park TS (2010) ider(17)(q10) t(15;17) associated with relapse and poor prognosis in a pediatric patients with acute promyelocytic leukemia. Cancer Genet. Cytogenet. 201(12), 116- 121.
- Kohno A, Tsuzuki S, Kasai M, Miyamura K, Emi N, Tanimoto M and Saito H (2001) Acute promyelocytic leukemia with apparently normal karyotype: molecular findings and response to all-trans retinoic acid. Luek. Lymphoma. 42(1-2), 151-161.
- Kolomietz E, Al-Maghrabi J, Brennan S, Karaskova J, Minkin S, Lipton J and Squire JA (2001) Primary chromosome rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis. Blood. 97(11), 3581-3588.
- 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 cytogenetically normal karyotype. Chrom. Sci. 11, 53-60.
- Lee GY, Christina S, Tien SL, Ghafar AB, Hwang W, Lim LC and Lim TH (2005) Acute promyelocytic leukemia with PML-RARA fusion on i(17q) and therapy-related acute myeloid leukemia. Cancer Genet. Cytogenet. 159(2), 129-136.
- Li YP, Andersen J, Zelent A, Rao S, Paietta E, Tallman MS, Wiernik PH and Gallagher RE (1997) RAR alpha/RAR alpha2-PML m RNA expression in acute promyelocytic leukemia cells: A molecular and laboratory-clinical correlative study. Blood. 90(1), 306-312.
- Liu H, Tanaka K and Kamada N (2008a) Differential expression of PML in 60Co-?rays and ?-IFN-induced apoptosis in B-lymphocytes. Ind. J. Sci. Technol. 1(3), 1-13. http://www.indjst.org.
- Liu H, Tanaka K and Kamada N (2008b) Increased expression of PML protein in lymphocytes induced by serum from patietns with severe aplastic anemia. Ind. J. Sci. Technol. 1(4), 1-9. http://www.indjst.org.
- Luatti S, Marzocchi G, Ottaviani E, Baldazzi C, Stacchini M, Gamberini C, Salmi F, Martinelli G, Baccarani M and Testoni N (2008) Acute promyelocytic leukemia with amplification of PMLRARa rearrangement: Clinical implications. Leuk. Res. 32,1941–1943.
- Manola K, Karakosta M, Sambani C, Terzoudi G, Pagoni M, Gatsa E and Papaioannou M (2010) Isochromosome der(17)(q10)t(15;17) in acute promyleocytic leukemia resulting an additional copy of the RARA-PML fusion gene -report of 4 cases and review of the literature. Acta Haematol. 123(3), 162- 170.
- Matsuoka A, Miyamura K, Emi N, Tahara T, Tanimoto M, Naoe T, Ohno R, Kakizuka A, Evans RM and Saito H (1993) Unexpected heterogeneity of PMLRAR alpha fused mRNA detected by nested polymerase chain reaction in acute promyelocytic leukemia. Leukemia. 7(8), 1151-1155.
- Mistry AR, Felix CA, Whitemarsh RJ, Mason A, Reiter A, Cassinat B, Parry A, Walz C,Wiemels JL, Segal MR, Adés L, Blair IA, Osheroff N, Peniket AJ, Lafage- Pochitaloff M, Cross NC, Chmienne C, Solomon E, Fenaux P and Grimwade D (2005) DNA topoisomerase ? in therapy-related acute promyelocytic leukemia. N. Engl. J. Med. 352(15), 1529-1538.
- Miyazaki K, Kikukawa M, Kikuchi A, Shin K, Iwamoto T and Ohyashiki K (2007) Complex trasnlocations derived stepwise from standard t(15;17) in a patient with variant acute promyelocytic leukemia. Cancer Genet. Cytogenet. 176(2), 127-130.
- Moon HW, Chang YH, Kim TY, Oh BR, Min HC, Kim BK, Ahn HS, Cho HI and Lee DS (2007) Incidence of submicroscopic deletions varies according to disease entities and chromosomal translocations in hematological malignancies: Investigation by fluorescence in situ hybridization. Cancer Genet. Cytogenet. 175(2), 166-168.
- Mozziconacci MJ, Liberatore C, Brunel V, Grignani F, Arnoulet C, Francesco PF, Fernandez F, Sainty D, Pelicci PG, Birg F and Lafage-Pochitaloff M (1998) In vitro response to all-trans retinoic acid of acute promyelocytic leukemias with nonreciprocal PML/RARA or RARA/PML fusion genes. Genes Chrom. Cancer. 22(3), 241-250.
- Occhinorelli M, Santoro F, Pallavicini I, Gruszka A, Moretti S, Bossi D, Viale A, Shing D, Ronzoni S, Muradore I, Soncini M, Pruneri G, Rafaniello P, Viale G, Pelicci PG and Minucci S (2011) The selfassociation coiled –coil domain of PML is sufficient for the oncogenic conversion of the retinoic acid receptor (RAR) alpha. Leukemia. 25(5), 814-820.
- Park JP, Fairwether RB and Mohandas TK (1997) Isochromosome for derivative 17q in acute promyelocytic leukemia: evidence for two copies of PML-RARA and favorable response to all-transretinoic acid therapy. Gene Chrom. Cancer. 18(2), 151-153.
- Pearson M and Pelicci PG (2001) PML interaction with p53 and its role in apoptosis and replicative senescence. Oncogene. 20(49), 7250-7256.
- Redner (2002) Variations on a theme: the alternate translocations in APL. Leukemia. 16(10), 1927-1932.
- Sakurai M, Sasaki M, Kamada N, Okada M, Oshimura M, Ishihara T and Shiraishi Y (1982) A summary of cytogenetic , morphologic, and clinical data on t(8q-; 21q+) and t(15q+;17q-) translocation leukemia in Japan. Cancer Genet. Cytogenet. 7(1), 59-65.
- Stavropoulou C, Ceorgakikos VN, Manola KN, Pagoni M, Garofalaki M, Pantelias GE and Sambani C (2008) 5’ RARA submicroscopic deletion from new variant translocation involving chromosomes 15, 17, and 18, in a case of acute promyelocyticleukekemia. Cancer Genet. Cytogenet. 182(1), 50-55.
- Tanaka K, Hashimoto T, Oguma N, Dohy H and Kamada N (1993) Influence of M-BCR breakpoint sites on duration of chronic phase in 100 patients with chronic myelocytic leukemia. Cancer Genet. Cytogenet. 70(1), 39-47.
- Tanaka K, Arif M, Eguchi M, Kumaravel TS, Ueda R, Ohno R, Iwato K, Kyo T, Dohy H and Kamada N (1997a) Application of fluorescence in situ hybridization to detect residual leukemic cells with 9;22 and 15;17 translocations. Leukemia. 11(3), 436- 440.
- Tanaka K, Arif M, Eguchi M, Kyo T, Dohy H and Kamada N (1997b) Frequent jumping translocations of chromosome segments involving the ABL oncogene alone or in combination with CD3-MLL gene in secondary leukemia. Blood. 89(2), 596-600.
- Tanaka K and Kamada N (1998) Segmental jumping translocation in leukemia and lymphoma with a highly complex karyotype. Leuk. Lymphoma. 29(5-6), 563- 575.
- Tanaka K, Arif M, Eguchi M, Shintani T, Kumaravel TS, Asaoku H, Kyo T, Dohy H and Kamada N (1999) Interphase fluorescence in situ hybridization overcomes pitfalls of G-banding analysis with special reference to underestimation of chromosomal aberration rates. Cancer Genet. Cytogenet. 115(1), 32-38.
- Tanaka K, Arif M, Kyo. Dohy TH 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(1), 8-14.
- Tanaka K, Minamihisamatsu M, Yagi S, Kyo T, Dohy H and Kamada N (2001) Two step mechanism for formation of complex 9;22 chromosome translocation in chronic myeloid leukemia, detected by fluorescence in situ hybridization. Exp. Oncol. 23(1), 29-38.
- Tanaka K, Minamihisamatsu M, Kyo T and Kamada N (2012a) Complex 8;21 translocations formed by two step mechanism and simple 8;21 chromosome translocation without AML1 gene involvement in acute myelocytric leukemia. Ind. J. Sci. Technol. 5(3), 2240-2252.
- Tanaka K (2012b) Identification of nine chromosomal segments with jumping translocation in 564 human leukemia and lymphomas. Ind. J. Sci. Technol. 5(4), 2473-2486.
- Tashiro S, Tanaka K, Asou H, Kyo T, Dohy H, Ssuzuki K and Kamada N (1993) Detection of PML/Retinoic acid receptor a gene rearrangements by polymerase chain reaction using genomic DNA in patients with acute promyelocytic leukemia. Jpn. Cancer Res. 84(2), 110-113.
- The 4th International Workshop on Chromosomes in Leukemia (1984) Chromosomes in acute promyleocytic leukemia. Cancer Genet. Cytogenet. 11, 288-293.
- Turner P, Grace C, Nacheva EP and Green AR (2001) Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognositic indicator in chronic myeloid leukemia. Blood. 98(6), 1732-1738.
- Viguié Aboura A, Ramond S, Buscary D, Bausdard M, Chmienne C and Marie JP (2000) Submicroscopic insertion of RAR alpha gene into chromosome 15 in two cases promyelocytic leukemia. Cancer Genet. Cytogenet. 119(2), 162-164.
- Walter MJ, Ries RE, Armstrong JR, Park JS, Mardis ERS and Ley TJ (2007) Expression ofa bcr-1 isoform of RARalpha-PML does not affect the penetrance of acute promyelocytic leukemia or the acquisition of an interstitial deletion on mouse chromosome 2. Blood. 109(3), 1237-1240.
- Walz C, Grimwade D, Sausselle S, Lengfelder E, Haferlach C, Schnittger S, Lafage-Pochitaloff M, Hochhaus A, Cross CP and Reiter A (2010) Atypical mRNA fusions in PML-RARA positive, RARA-PML negative acute promyelocytic leukemia. Genes Chrom. Cancer. 49(5), 471-479.
- Wells RA, Catzavelos C and Kamel-Reid S (1997) Fusion of retinoic acid receptor a to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukemia. Nature Genet. 17(1), 109-113.
- WHO Classification of Tumours 2007 (2008) WHO Classification of Tumours of Heamatopoietic and Lymphoid Tissues, Edited by S.H. Swerdlow, E. Campo, N. Harris, E.S. Jaffe, S.A. H. Pileri, , J. Stein, J. Thiele and J.W. Vardiman. Intl. Agency Res. Cancer, Lyon.
- Yamamoto K, Hamaguchi H, Nagata K, Kobayashi M, Takahashi M, Takashima T and Taniwaki M (1998) A new complex translocation t(15;20;17)(q22;p13;q21) in acute promyelocytic leukemia. Cancer Genet. Cytogenet. 101(2), 89-94.
- Yang S, Kuo C, Bisi JE and Kim MK (2002) PMLdependent apoptosis after DNA damage is regulated by the checkpoint kinase hCds1/Chk2. Nature Cell Biol. 4(11), 865-870.