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Original Article

Variant and Masked Translocations in Acute Promyelocytic Leukemia

, , , &
Pages 221-228 | Received 10 Jul 1995, Published online: 01 Jul 2009

References

  • Rabbits T.H. Chromosomal translocations in human cancer. Nature 1994; 372: 143–149
  • Baer M., Bloomfield C. Acute promyelocytic leukemia: an update. Annals Oncol 1991; 2: 392–393
  • Golomb H., Rowley J.D., Vardiman J.W., Testa J.R., Butler A. “Microgranular” acute promyelocy tic leukemia: a distinct clinical, ultrastructural, and cytogenetic entity. Blood 1980; 55: 253–259
  • De Rossi G., Avvisati G., Coluzzi S., Fenu S., Lo Coco F., Lopez M., Nanni M., Pasqualetti D., Mandelli F. Immunological definition of acute promyelocytic leukemia (FAB M3): a study of 39 cases. Eur. J. Haematol 1990; 45: 168–171
  • Rowley J.D., Golomb H.M., Vardiman J.W. 15/17 translocation, a consistent chromosomal change in acute promye-locytic leukemia. Lancet 1977; 1: 549–550
  • Larson R.A., Kondo K., Vardiman J.W., Butler A., Golomb H.G., Rowley J.D. Evidence for a t(15;17) translocation in every patient with acute promyelocytic leukemia. Am. J. Med. 1984; 76: 827–841
  • Berger R., Bernheim A., Daniel M.T., Flandrin G. t(15; 17) in a promyelocytic form of chronic myeloid leukemia blast crisis. Cancer Genet. Cytogenet. 1983; 8: 149–152
  • Kadam P.R., Merchant A.A., Advani S.H. Cytogenetic findings in patients with acute promyelocytic leukemia and a case of CML blast crisis with promyelocytic proliferation. Cancer Genet. Cytogenet. 1990; 50: 109–117
  • Huang M.E., Ye Y.C., Chen S.R., Chai J.R., Lu J.X., Zhoa L., Gu L.J., Wang Z.Y. Use of all-trans retinoic acid in the treatment of acute promyelocytic leukemia. Blood 1988; 72: 567–572
  • Castaigne S., Chomienne C., Daniel M.T., Ballerini P., Berger R., Fenaux P., Degos L. All-trans retinoic acid as a differentiation therapy for acute promyelocytic leukemia. I: Clinical results. Blood 1990; 76: 1704–1709
  • Chomienne C., Ballerini P., Balitrand N., Daniel M.T., Fenaux P., Castaigne S., Degos L. All-trans retinoic acid in acute promyelocytic leukemia. II. In vitro studies/structure function relationship. Blood 1990; 76: 1710–1717
  • Alcalay M., Zangrilli D., Pandolfi P.P., Longo L., Mencarelli A., Giacomuci A., Rocchi M., Biondi A., Rambaldi A., Lo Coco A., Diverio D., Donti E., Grignani F., Pelicci P.G. Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor a locus. Proc. Natl. Acad. Sci. USA 1991; 88: 1977–1981
  • De The H., Chomienne C., Lanotte M., Degos L., Dejean A. The t(15;17) translocation of acute promyelocytic leukemia fuses the retinoic acid receptor a gene to a novel transcribed locus. Nature 1990; 347: 558–561
  • Goddard A., Borrow J., Freemont P., Solomon E. Characterization of a zinc finger gene disrupted by the t(15;17) in acute promyelocytic leukemia. Science 1991; 254: 1371–1373
  • Alcalay M., Zangrilli D., Fagiolo M., Pandolfi P.P., Mencarelli A., Lo Coco F., Biondi A., Grignani F., Pelicci P.G. Expression pattern of the RARA/PML fusion gene in acute promyelocytic leukemia. Proc. Natl. Acad. Sci. USA 1992; 89: 4840–4844
  • Borrow J., Goddard A., Gibbons B., Katz F., Swirsky D., Fioretos T., Dube A., Winfield D., Kingston J., Hagemeijer A., Rees J. K. H., Lister A., Solomon E. Diagnosis of acute promyelocytic leukemia by RT-PCR; detection of PML-RARrx and RARa/PML fusion transcripts. British J. Haematol. 1992; 82: 529–540
  • Warrel R.P., De The H., Wang Z.Y., Degos L. Acute promyelocytic leukemia. N. Engl. J. Med. 1993; 329: 177–189
  • Grignani F., Fagioli M., Alcalay M., Longo L., Pandolfi P.P., Donti E., Biondi A., Lo Coco F., Grignani F., Pelicci P.G. Acute promyelocytic leukemia: from genetics to treatment. Blood 1994; 83: 10–25
  • Biondi A., Rambaldi A., Alcalay M., Pandolfi P.P., Lo Coco F., Diverio D., Rossi V., Mencarelli A., Longo L., Zangrilli D., Masera G., Barbui T., Mandelli F., Grignani F., Pelicci P.G. RARa gene rearrangement as a genetic marker for diagnosis and monitoring in acute promyelocytic leukemia. Blood 1991; 77: 1418–1422
  • Lo Coco F., Diverio D., Pandolfi P.P., Biondi A., Rossie V., Avvisati G., Rambaldi A., Arcese W., Petti M., Meloni G., Mandelli F., Grignani F., Masera G., Barbui T., Pelicci P.G. Molecular evaluation of residual disease as a predictor of relapse in acute promyelocytic leukaemia. Lancet 1992; 340: 1437–1438
  • Fukutani H., Naoe T., Yoshida H., Yamamori S., Ohno R. Molecular heterogeneity of the PML gene rearrangement in acute promyelocytic leukemia. Jap. J. Cane. Res. 1993; 84: 257–264
  • Berger R., Le Coniat M., Derre J., Vecchione D., Jonveaux P. Cytogenetic studies in acute promyelocytic leukemia: a survey of secondary chromosomal abnormalities. Genes Chrom. Cancer 1991; 3: 332–337
  • Longo L., Trecca D., Biondi A., LoCoco F., Grignani F., Maiolo A.T., Pelicci P.G., Neri A. Frequency of RAS and p53 mutations in acute promyelocytic leukemias. Leukemia Lymphoma 1993; 11: 405–10
  • Yamamoto K., Hirosawa S., Sakamaki H., Aoki N. Frequent rearrangements of retinoid acid receptor alpha gene and Myl gene, and rare mutations of Ras and Fms genes in acute promyelocytic leukemia. Am. J. Hematol. 1993; 40: 252–258
  • Mitelman F. The cytogenetic scenario of chronic myeloid leukemia. Leukemia Lymphoma 1993; 11(Sup 1)11–15
  • Baranger L., Gardembas M., Hillion J., Foussard C., Ifrah N., Boasson M., Berger R. Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia. Genes Chrom. Cancer 1993; 6: 118–120
  • Borrow J., Shipley J., Howe K., Kiely F., Goddard A., Sheer D., Srivastava A., Antony A.C., Fioretos T., Mitelman F., Solomon E. Molecular analysis of simple variant translo-cations in acute promyelocytic leukemia. Genes Chrom. Cancer 1993; 9: 234–243
  • McKinney C.D., Golden W.L., Gemma N.W., Swerdlow S.H., Williams M.E. RARA and PML gene rearrangements in acute promyelocytic leukemia with complex translocations and atypical features. Genes Chrom. Cancer 1994; 9: 49–56
  • Ogawa S., Mitani K., Sato Y., Sugimoto K., Toyoshima H., Mano H., Takaku F., Yazaki Y., Hirai H. Detection of the PML/RARot fusion gene in acute promyelocytic leukemia with a complex translocation involving chromosomes 15 17 and 18. CancerGenet. Cytogenet. 1993; 69: 113–117
  • Amano M., Togawa A., Tsurugano S., Soda Y., Yuo A., Takaku F., Ogawa S., Hirai H., Yamada K. Rearrangement of retinoic acid receptor α and PML in promyelocytic blast crisis of Ph1 chromosome positive chronic myeloid leukemia with normal copies of chromosome 15. Blood 1993; 81: 2469–2470
  • Najfeld V., Scalise A., Troy K. A new variant translocation t(l 1;17) in a patient with acute promyelocytic leukemia together with t(7;12). Cancer Genet. Cytogenet. 1989; 43: 103–108
  • Yamada K., Sugimoto E., Amano M., Imamura Y., Kubota T., Matsumoto M. Two cases of acute promyelocytic leukemia with variant translocations: the importance of chromosome No. 17 abnormality. Cancer Genet. Cytogenet. 1983; 9: 93–99
  • Schwartz J.G., Clare N., Hansen K., Britton H., Manhoff L. Acute promyelocytic leukemia: report of a variant translocation, t(l;17). Cancer Genet. Cytogenet. 1986; 20: 89–93
  • Ikeda K., Sasaki K., Tasaka T., Nagai M., Kawanishi K., Takahara J., Irino S. Detection of PML-retinoic acid receptor a fusion transcripts in acute promyelocytic leukemia with tri-somy 8 but without t(15;17). Am. J. Hematol 1994; 45: 212–216
  • Emilia E., Marasca R., Longo G., Ferrari M.G., Notohamiprodjo M., Temperani P., Sacchi S., Torelli G. Detection of PML-RARA fusion transcript in Ph positive leukemia with acute promyelocytic phenotype lacking the t(15;17) abnormality. Cancer Genet. Cytogenet. 1995; 80: 95–99
  • Hiorns L.R., Min T., Swansbury G.J., Zelent A., Dyer M. J. S., Catovsky D. Interstitial insertion of retinoic acid receptor alpha gene in acute promyelocytic leukemia with normal chromosomes 15 and 17. Blood 1994; 83M: 2946–2951
  • Lo Coco F., Diverio D., D'Adamo F., Avvisati G., Alimena G., Nanni M., Alcalay M., Pandolfi P., Pelicci P.G. PML/RARA rearrangement in acute promyelocytic leukaemias apparently lacking the t(15;17) translocation. Eur. J. Haematol. 1992; 48: 173–176
  • Morris C.M., Heisterkamp N., Kennedy M.H., Fitzgerald P.H., Groffen J. Ph-negative chronic myeloid leukemia: molecular analysis of ABL insertion into M-BCR on chromosome 22. Blood 1990; 76: 1812–1818
  • Nacheva E., Holloway T., Brown K., Bloxham D., Green A.R. Philadelphia-negative chronic myeloid leukaemia: detection by FISH of BCR-ABL fusion gene localized either to chromosome 9 or chromosome 22. British J. HaemaloI 1993; 87: 409–412
  • Lafage-Pochitaloff M., Alcalay M., Brunei V., Longo L., Sainty D., Simonetti J., Birg F., Pelicci P.G. Acute promye-locytic leukemia cases with non-reciprocal PML/RARA or RARA/PML fusion genes. Blood 1995; 85: 1169–1174
  • Bernard O.A., Berger R. Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. Genes Chrom. Cancer 1995; 13: 75–85
  • Young B.D. Chromosome 11q23 abnormalities in leukaemia. Clinical Hematology: The molecular genetics of haematological malignancies, B.D. Young. Baillere's, London 1992; 881–896
  • Von Lindern M., van Baal S., Wiegant J., Raap A., Hagemeiger A., Grosveld G. can, the putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3′ half to different genes: characterization of the set gene. Mol. Cell. Biol 1992; 12: 3346–3355
  • Nucifora G., Rowley J.D. AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. Blood 1995; 86: 1–14
  • Golub T.R., Barker G.F., Lovett M., Gilliland D.G. Fusion of PDGF receptor P to a novel ets-like gene, tel in chronic myelomonocytic leukemia with t(5; 12) chromosomal translocation. Cell 1994; 77: 307–316
  • Golub T.R., Barker G.F., Bohlander S.K., Hiebert S.W., Ward D.C., Bray-Ward P., Morgan E., Raimondi S.C., Rowley J.D., Gilliland D.G. Fusion of the TEL gene on 12pl3 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc. Natl. Acad. Sci. USA 1995; 92: 4917–4921
  • Buijs A., Sherr S., van Baal S., van Bezouw S., van der Plas D., van Kessel A.G., Riegman P., Deprez R.L., Zwarthoff E., Hagemeijer A., Grosveld G. Translocation (12;22Xpl3;ql 1) in myelo-proliferative disorders results in fusion of the ETS-like gene TEL on 12pl3 to the MN1 gene on 22q11. Oncogene 1995; 10: 1511–1519
  • Romana S.P., Mauchauffe M.M., Le Coniat M., Chumakov I., Le Paslier D., Berger R., Bernard O.A. The t(12;21) of acute lymphoblastic leukemia results in a tel-AMLl gene fusion. Blood 1995; 85: 3662–3670
  • Papadopoulos P., Ridge S.A., Boucher C.A., Stocking C., Wiedemann L.M. The novel activation of ABL by fusion to an ets-related gene. TEL. Canc. Res. 1995; 55: 34–38
  • Chen Z., Brand J., Chen A., Chen S.J., Tong J.H., Wang Z.Y., Waxman S., Zelent A. Fusion between a novel krüppel-like zinc finger gene and the retinoic acid receptor alpha locus due to a variant t(l 1;17) translocation associated with acute promyelo-cytic leukemia. EMBO J. 1993; 12: 1161–1167
  • Zelent A. Translocation of the RARA locus to the PML or PLZF gene in acute promyelocytic leukaemia. Br. J. Haematol. 1994; 86: 451–460
  • Chen Z., Guidez F., Rousselot P., Agadir A., Chen S.J., Wang Z.Y., Degos L., Zelent A., Waxman S., Chomienne C. PLZF-RARA fusion proteins generated from the variant t(11; 17)(q23-q21) translocation in acute promyelocytic leukemia inhibit ligand independant transactivation of wild type retinoic acid receptor. Proc. Natl. Acad. Sci. USA 1994; 91: 1178–1182
  • Corey S.J., Locker J., Oliver D.R., Shekter-Levin S., Redner R.L., Penchansky L., Gollin S.M. A non-classical translocation involving 17q12 (retinoic acid receptor a) in acute promyelocytic leukemia (APML) with atypical features. Leukemia 1994; 8: 1350–1353
  • Redner R.L., Rush A., Faas S., Rudert W.A., Corey S.J. The t(5;17) translocation in acute promyelocytic leukemia generates a nucleophosmin-RARA fusion transcript. Blood 1994; 84(Sup. 1)375a
  • Borer R.A., Lehner C.F., Eppenberger H.M., Nigg E.A. Major nucleolar proteins shuttle betwen nucleus and cytoplasm. Cell 1989; 56: 379–390
  • Brunei V., Sainty D., Carbuccia N., Arnoulet C., Costello R., Mozziconacci M.J., Simonetti J., Coignet L., Gabert J., Stoppa A.M., Birg F., Lafage-Pochitaloff M. Translocation (5; 17) in an atypical acute promyelocytic leukemia. Genes Chrom. Cancer 1995, (In press)
  • Morris S.W., Kirstein M.N., Valentine M.B., Dittmer K.G., Shapiro D.N., Saltman D.L., Look A.T. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. Science 1994; 263: 1281–1284
  • Yoneda N., Look A.T., Kirstein M.N., Valentine M.B., Raimondi S.C., Civin C.I., Ravindranath Y., Morris S.W. The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene. NPM-MLF1. Blood 1994; 84(Sup. 1)440a
  • Tobal K., Saunders M.J., Grey M.R., Yin J. A. L. Persistence of RARα-PML fusion mRNA detected by reverse tran-scriptase polymerase chain reaction in patients in long term remission of acute promyelocytic leukemia. British J. Haematol 1995; 90: 615–618
  • Bernstein R., Mendelow B., Pinto M.R., Morcom G., Bezwoda W. Complex translocations involving chromosomes 15 and 17 in acute promyelocytic leukemia. British J. Haematol. 1980; 46: 311–314
  • Callen D.F., Dale B.M., Sage R.E., Ford J.H. A complex translocation in acute promyelocytic leukemia. Cancer Genet. Cytogenet. 1985; 16: 45–48
  • Ohyashiki K., Oshimura M., Uchida H., Nomoto S., Sakai N., Tonomura A., Ito H. Cytogenetic and ultrastructural studies on ten patients with acute promyelocytic leukemia, including one case with a complex translocation. Cancer Genet. Cytogenet. 1985; 14: 247–255
  • Bjerrum O.W., Philip P., Pressler T., Tygstrup I. Acute promyelocytic leukemia with t(15;17) and t(12;17;15). Cancer Genet. Cytogenet. 1987; 28: 107–111
  • Osella P., Wyandt H., Vosburgh E., Milunsky A. Report of a variant t(l;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia. Cancer Genet. Cytogenet. 1991; 57: 201–207
  • Chen Z., Morgan R., Stone J.F., Sandberg A.A. Identification of complex t(15;17) in APL by FISH. Cancer Genet. Cytogenet. 1994; 72: 73–74
  • Sonoda Y., Misawa S., Maekawa T., Taiwaki M., Abe T., Takino T. A variant (15; 17) translocation in a patient with acute promyelocytic leukemia. Cancer Genet. Cytogenet. 1985; 17: 61–67
  • Miura I., Nishinari T., Hashimoto K., Nimura T., Miura S., Miura A.B. Translocation (8;17)(p21;q21) a possible variant of t(15;17), in acute promyelocytic leukemia. Cancer Genet. Cytogenet. 1994; 72: 75–77
  • Cigudosa J.C., Calasanz M.J., Odero M.D., Marin J., Bengoechea E., Gullon A. A variant t(14;17) in acute promyelocytic leukemia. Cancer Genet. Cytogenet. 1995; 80: 160–161

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