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A Novel Translocation Involving RUNX1 and HOXA Gene Clusters in a Case of Acute Myeloid Leukemia with t(7;21)(p15;q22)

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초록

Translocations involving chromosome 21q22 are frequently observed in hematologic malignancies including acute myeloid leukemia (AML), most of which have been known to be involved in malignant transformation through transcriptional dysregulation of Runt-related transcription factor 1 (RUNX1) target genes. Nineteen RUNX1 translocational partner genes, at least, have been identified, but not Homeobox A (HOXA) genes so far. We report a novel translocation of RUNX1 into the HOXA gene cluster in a 57-year-old female AML patient who had been diagnosed with myelofibrosis 39 months ahead. G-banding showed 46,XX,t(7;21)(p15;q22). The involvement of RUNX1 and HOXA genes was confirmed by fluorescence in situ hybridization.

Abstract

Translocations involving chromosome 21q22 are frequently observed in hematologic malignancies including acute myeloid leukemia (AML), most of which have been known to be involved in malignant transformation through transcriptional dysregulation of Runt-related transcription factor 1 (RUNX1) target genes. Nineteen RUNX1 translocational partner genes, at least, have been identified, but not Homeobox A (HOXA) genes so far. We report a novel translocation of RUNX1 into the HOXA gene cluster in a 57-year-old female AML patient who had been diagnosed with myelofibrosis 39 months ahead. G-banding showed 46,XX,t(7;21)(p15;q22). The involvement of RUNX1 and HOXA genes was confirmed by fluorescence in situ hybridization.

참고문헌 (18)

  1. Okuda, T., "AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis", Cell, 84, pp.321~330 (1996)
  2. de Bruijn, M. F., "Core-binding factors in hematopoiesis and immune function", Oncogene, 23, pp.4238~4248 (2004)
  3. Miyoshi, H., "t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1", Proc. Natl. Acad. Sci. USA, 88, pp.10431~10434 (1991)
  4. Huret, J. L., "Complex translocations, simple variant translocations and Ph-negative cases in chronic myelogenous leukaemia", Hum. Genet, 85, pp.565~568 (1990)
  5. Krumlauf, R, "Hox genes in vertebrate development", Cell, 78, pp.191~201 (1994)
  6. Pineault, N., "Differential expression of Hox, Meis1, and Pbx1 genes in primitive cells throughout murine hematopoietic ontogeny", Exp. Hematol, 30, pp.49~57 (2002)
  7. Kroon, E., "NUP98-HOXA9 expression in hemopoietic stem cells induces chronic and acute myeloid leukemias in mice", EMBO J, 20, pp.350~361 (2001)
  8. Argiropoulos, B., "Hox genes in hematopoiesis and leukemogenesis", Oncogene, 26, pp.6766~6776 (2007)
  9. Chou, W. C., "Acute myeloid leukemia bearing t(7;11)(p15;p15) is a distinct cytogenetic entity with poor outcome and a distinct mutation profile: comparative analysis of 493 adult patients", Leukemia, 23, pp.1303~1310 (2009)
  10. Makretsov, N., "A fluorescence in situ hybridization study of ETV6-NTRK3 fusion gene in secretory breast carcinoma", Genes Chromosomes Cancer, 40, pp.152~157 (2004)
  11. Koo, S. H., "Cytogenetic and fluorescence in situ hybridization analyses of hematologic malignancies in Korea", Cancer Genet. Cytogenet, 101, pp.1~6 (1998)
  12. Jeandidier, E., "Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique", Cancer Genet. Cytogenet, 166, pp.1~11 (2006)
  13. Pineault, N., "Differential and common leukemogenic potentials of multiple NUP98-Hox fusion proteins alone or with Meis1", Mol. Cell. Biol, 24, pp.1907~1917 (2004)
  14. Yassin, E. R., "Dissection of the transformation of primary human hematopoietic cells by the oncogene NUP98-HOXA9", PLoS One, 4, pp.e6719~ (2009)
  15. Wang, Q., "The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo", Cell, 87, pp.697~708 (1996)
  16. Meyers, S., "The t(8;21) fusion protein interferes with AML-1B-dependent transcriptional activation", Mol. Cell. Biol, 15, pp.1974~1982 (1995)
  17. Thorsteinsdottir, U., "Overexpression of HOXA10 in murine hematopoietic cells perturbs both myeloid and lymphoid differentiation and leads to acute myeloid leukemia", Mol. Cell. Biol, 17, pp.495~505 (1997)
  18. Mesa, R. A., "Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases", Blood, 105, pp.973~977 (2005)

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