81
Views
1
CrossRef citations to date
0
Altmetric
Case Report

Variant translocation with a deletion of derivative (9q) in a case of Philadelphia chromosome positive (Ph +) essential thrombocythemia (ET), a variant of chronic myelogenous leukemia (CML) with a poor prognosis

, , &
Pages 1801-1806 | Received 20 Jun 2005, Published online: 01 Jul 2009

References

  • Steensma D P, Tefferi A. Cytogenetic and molecular genetic aspects of essential thrombocythemia. Acta Haematologica 2002; 108: 55–65
  • Kwong Y L, Chiu E K, Liang R H, Chan V, Chan T K. Essential thrombocythemia with BCR/ABL rearrangement. Cancer Genetics & Cytogenetics 1996; 89: 74–76
  • Fadilah S A, Cheong S K. BCR-ABL positive essential thrombocythaemia: a variant of chronic myelogerous leukaemia or a distinct clinical entity: a special case report. Singapore Medical Journal 2000; 41: 595–598
  • Murphy S, Peterson P, Iland H, Laszlo J. Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Seminars in Hematology 1997; 34: 29–39
  • Pajor L, Kereskai L, Zsdral K, Nagy Z, Vass J A, Jakso P, Radvanyi G. Philadelphia chromosome and/or bcr-abl mRNA-positive primary thrombocytosis: morphometric evidence for the transition from essential thrombocythaemia to chronic myeloid leukaemia type of myeloproliferation. Histopathology 2003; 42: 53–60
  • Aviram A, Blickstein D, Stark P, Luboshitz J, Bairey O, Prokocimer M, Shaklai M. Significance of BCR-ABL transcripts in bone marrow aspirates of Philadelphia-negative essential thrombocythemia patients. Leukemia & Lymphoma 1999; 33: 77–82
  • Marasca R, Luppi M, Zucchini P, Longo G, Torelli G, Emilia G. Might essential thrombocythemia carry Ph anomaly?. Blood 1998; 91: 3084–3085
  • Michiels J J, Berneman Z, Schroyens W, Kutti J, Swolin B, Ridell B, et al. Philadelphia (Ph) chromosome-positive thrombocythemia without features of chronic myeloid leukemia in peripheral blood: natural history and diagnostic differentiation from Ph-negative essential thrombocythemia. Annals of Hematology 2004; 83: 504–512
  • Huntly B J, Reid A G, Bench A J, Campbell L J, Telford N, Shepherd P, et al. Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia. Blood 2001; 98: 1732–1738, [comment]
  • Lee D S, Lee Y S, Yun Y S, Kim Y R, Jeong S S, Lee Y K, et al. Astudy on the incidence of ABL gene deletion on derivative chromosome 9 in chronic myelogenous leukemia by interphase fluorescence in situ hybridization and its association with disease progression. Genes, Chromosomes & Cancer 2003; 37: 291–299
  • Reid A G, Huntly B J, Grace C, Green A R, Nacheva E P. Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia. British Journal of Haematology 2003; 121: 419–427
  • Huntly B J, Bench A, Green A R. Double jeopardy from a single translocation: deletions of the derivative chromosome 9 in chronic myeloid leukemia. Blood 2003; 102: 1160–1168
  • Huntly B J, Guilhot F, Reid A G, Vassiliou G, Hennig E, Franke C, et al. Imatinib improves but may not fully reverse the poor prognosis of patients with CML with derivative chromosome 9 deletions. Blood 2003; 102: 2205–2212
  • Mitelman. NCI Mitelman Database of Chromosome Aberrations in Cancer 2004. Available online at: http://cgap.nci.nih. gov/Mitelman Accessed 2 April 2005.
  • Rowley J. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973; 243: 290–293
  • Markovic V D, Bouman D, Bayani J, Al-Maghrabi J, Kamel-Reid S, Squire J A. Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping. Leukemia 2000; 14: 1157–1160
  • Bartram C R, Carbonell F. bcr rearrangement in Ph-negative CML. Cancer Genetics & Cytogenetics 1986; 21: 183–184
  • Shtalrid M, Talpaz M, Blick M, Romero P, Kantarjian H, Taylor K, et al. Philadelphia-negative chronic myelogenous leukemia with breakpoint cluster region rearrangement: molecular analysis, clinical characteristics, and response to therapy. Journal of Clinical Oncology 1988; 6: 1569–1575
  • Storlazzi C T, Anelli L, Surace C, Lonoce A, Zagaria A, Nanni M, et al. Molecular cytogenetic characterization of a complex rearrangement involving chromosomes 9 and 22 in a case of Ph-negative chronic myeloid leukemia. Cancer Genetics & Cytogenetics 2002; 136: 141–145
  • Becher R, Qiu J Y, Parr A, Wendehorst E, Schmidt C G. Seven variants including four new Philadelphia translocations. Cancer Genetics & Cytogenetics 1990; 44: 181–186
  • Dube I, Dixon J, Beckett T, Grossman A, Weinstein M, Benn P, et al. Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement-positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes. Genes in Chromosomes Cancer 1989; 1: 106–111
  • Mantzourani M, Stamatopoulos K, Abazis D, Kontopidou F, Viniou N, Pangalis G A, et al. Molecular demonstration of BCR/ABL fusion in two cases with chronic myeloproliferative disorder carrying variant Philadelphia t(14;22)(q32;q11). Cancer Genetics & Cytogenetics 1996; 91: 82–87
  • Ferro M T, Roman C San, Guzman M, Larana J G, Ordriozola J. Translocation t(14;22)(q32;q11): a special variant of the Philadelphia chromosome. Cancer Genetics & Cytogenetics 1986; 20: 167–170
  • Browett P J, Cooke H M, Secker-Walker L M, Norton J D. Chromosome 22 breakpoints in variant Philadelphia translocations and Philadelphia-negative chronic myeloid leukemia. Cancer Genetics & Cytogenetics 1989; 37: 169–177
  • Yehuda O, Abeliovich D, Ben-Neriah S, Sverdlin I, Cohen R, Varadi G, et al. Clinical implications of fluorescence in situ hybridization analysis in 13 chronic myeloid leukemia cases: Ph-negative and variant Ph-positive. Cancer Genetics & Cytogenetics 1999; 114: 100–107
  • Benn P, Sopher L, Eisenber A. Utility of molecular genetic analysis of bcr rarrangement in the diagnosis of chronic myeloid leukemia. Cancer Genetics & Cytogenetics 1987; 29: 1–7
  • Cox M C, Maffei L, Buffolino S, Poeta G Del, Venditti A, Cantonetti M, et al. A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcr-abl-positive leukemias. American Journal of Clinical Pathology 1998; 109: 24–31
  • Tbakhi A, Pettay M T, Sreenan J J, Abdel-Razeq H, Kalaycio M, Hoeltge G, et al. Comparitive analysis of interphase FISH and RT-PCR to detect bcr-abl translocation in chronic myelogenous leukemia and related disorders. American Journal of Clinical Pathology 1998; 109: 15–23
  • Reddy K S, Grove B. A Philadelphia-negative chronic myeloid leukemia with a BCR/ABL fusion gene on chromosome 9. Cancer Genetics & Cytogenetics 1998; 107: 48–50
  • Primo D, Tabernero M D, Rasillo A, Sayagues J M, Espinosa A B, Chillon M C, et al. Patterns of BCR/ABL gene rearrangements by interphase fluorescence in situ hybridization (FISH) in BCR/ABL + leukemias: incidence and underlying genetic abnormalities. Leukemia 2003; 17: 1124–1129
  • Sinclair P B, Green A R, Grace C, Nacheva E P. Improved sensitivity of BCR-ABL detection: a triple-probe three-color fluorescence in situ hybridization system. Blood 1997; 90: 1395–1402
  • Grand F H, Chase A, Iqbal S, Nguyen D X, Lewis J L, Marley S B, et al. A two-color BCR-ABL probe that greatly reduces the false positive and false negative rates for fluorescence in situ hybridization in chronic myeloid leukemia. Genes, Chromosomes & Cancer 1998; 23: 109–115
  • Dewald G W, Wyatt W A, Juneau A L, Carlson R O, Zinsmeister A R, Jalal S M, et al. Highly sensitive fluorescence in situ hybridization method to detect double BCR/ABL fusion and monitor response to therapy in chronic myeloid leukemia. Blood 1998; 91: 3357–3365
  • Huntly B J, Bench A J, Delabesse E, Reid A G, Li J, Scott M A, et al. Derivative chromosome 9 deletions in chronic myeloid leukemia: poor prognosis is not associated with loss of ABL-BCR expression, elevated BCR-ABL levels, or karyotypic instability. Blood 2002; 99: 4547–4553
  • de la Fuente J, Merx K, Steer E J, Muller M, Szydlo R M, Maywald O, , Cross N C, et al. ABL-BCR expression does not correlate with deletions on the derivative chromosome 9 or survival in chronic myeloid leukemia. Blood 2001; 98: 2879–2880, [comment]

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.