ETV6-NCOA2: A novel fusion gene in acute leukemia associated with coexpression of T-lymphoid and myeloid markers and frequent NOTCH1 mutations

Clinical Cancer Research

Volumn 14, Issue 4, 2008, Pages 977-983

  Strehl, Sabine ^a,i   Nebral, Karin ^a   König, Margit ^a   Harbott, Jochen ^c   Strobl, Herbert ^b   Ratei, Richard ^d   Struski, Stephanie ^e   Bielorai, Bella ^f,g   Lessard, Michel ^e   Zimmermann, Martin ^h   Haas, Oskar A ^a   Izraeli, Shai ^f,g  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY HOSPITAL GIESSEN   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f SHEBA MEDICAL CENTER   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ CHILDREN'S CANCER RESEARCH INSTITUTE   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ARTICLE; CHILD; CHILDHOOD LEUKEMIA; CHROMOSOME 12P; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 8; CLINICAL ARTICLE; ETV6 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOPHENOTYPING; LEUKEMOGENESIS; MALE; NCOA2 GENE; NOTCH1 GENE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; IMMUNOPHENOTYPING; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR RECEPTOR COACTIVATOR 2; ONCOGENE FUSION; ONCOGENE PROTEINS, FUSION; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTO-ONCOGENE PROTEINS C-ETS; RECEPTOR, NOTCH1; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 39749194341     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-07-4022     Document Type: Article

References (54)

1. Matutes E, Morilla R, Farahat N, et al. Definition of acute biphenotypic leukemia. Haematologica 1997;82:64-6.
2. Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995;9:1783-6.
3. Borowitz MJ, Bray R, Gascoyne R, et al. U.S.-Canadian Consensus recommendations on the immunophenotypic analysis of hematologic neoplasia by flow cytometry: data analysis and interpretation. Cytometry 1997;30:236-44.
4. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-302.
5. Carbonell F, Swansbury J, Min T, et al. Cytogenetic findings in acute biphenotypic leukaemia. Leukemia 1996;10:1283-7.
6. Owaidah TM, Al Beihany A, Iqbal MA, Elkum N, Roberts GT. Cytogenetics, molecular and ultrastructural characteristics of biphenotypic acute leukemia identified by the EGIL scoring system. Leukemia 2006;20:620-6.
7. Rubio MT, Dhedin N, Boucheix C, et al. Adult T-biphenotypic acute leukaemia: clinical and biological features and outcome. Br J Haematol 2003;123:842-9.
8. Killick S, Matutes E, Powles RL, et al. Outcome of biphenotypic acute leukemia. Haematologica 1999;84:699-706.
9. Legrand O, Perrot JY, Simonin G, et al. Adult biphenotypic acute leukaemia: an entity with poor prognosis which is related to unfavourable cytogenetics and P-glycoprotein over-expression. Br J Haematol 1998;100:147-55.
10. Tiribelli M, Damiani D, Masolini P, Candoni A, Calistri E, Fanin R. Biological and clinical features of T-biphenotypic acute leukaemia: report from a single centre. Br J Haematol 2004;125:814-5.
11. Lahortiga I, Vizmanos JL, Agirre X, et al. NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). Cancer Res 2003;63:3079-83.
12. Hussey DJ, Nicola M, Moore S, Peters GB, Dobrovic A. The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is recurrent in T-cell acute lymphocytic leukemia. Blood 1999;94:2072-9.
13. Mecucci C, La Starza R, Negrini M, et al. t(4;11)(q21;p15) translocation involving NUP98 and RAP1GDS1 genes: characterization of a new subset of T acute lymphoblastic leukaemia. Br J Haematol 2000;109:788-93.
14. La Starza R, Crescenzi B, Krause A, et al. Dual-color split signal fluorescence in situ hybridization assays for the detection of CALM/AF10 in t(10;11)(p13;q14-21)-positive acute leukemia. Haematologica 2006;91:1248-51.
15. Wouters BJ, Alberich Jorda M, Keeshan K, et al. Distinct gene expression profiles of acute myeloid/T-lymphoid leukemia with silenced CEBPA and mutations in NOTCH1. Blood 2007;110:3706-14.
16. Fu L, Kogoshi H, Nara N, Tohda S. NOTCH1 mutations are rare in acute myeloid leukemia. Leuk Lymphoma 2006;47:2400-3.
17. Palomero T, McKenna K, J ON, et al. Activating mutations in NOTCH1 in acute myeloid leukemia and lineage switch leukemias. Leukemia 2006;20:1963-6.
18. Weng AP, Ferrando AA, Lee W, et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 2004;306:269-71.
19. Grabher C, von Boehmer H, Look AT. Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia. Nat Rev Cancer 2006;6:347-59.
20. Carlesso N, Aster JC, Sklar J, Scadden DT. Notch1-induced delay of human hematopoietic progenitor cell differentiation is associated with altered cell cycle kinetics. Blood 1999;93:838-48.
21. Jones P, May G, Healy L, et al. Stromal expression of Jagged 1 promotes colony formation by fetal hematopoietic progenitor cells. Blood 1998;92:1505-11.
22. Milner LA, Bigas A, Kopan R, Brashem-Stein C, Bernstein ID, Martin DI. Inhibition of granulocytic differentiation by mNotch1. Proc Natl Acad Sci U S A 1996;93:13014-9.
23. Walker L, Lynch M, Silverman S, et al. The Notch/Jagged pathway inhibits proliferation of human hematopoietic progenitors in vitro. Stem Cells 1999;17:162-71.
24. Schroeder T, Kohlhof H, Rieber N, Just U. Notch signaling induces multilineage myeloid differentiation and up-regulates PU.1 expression. J Immunol 2003;170:5538-48.
25. Shaffer L, Mitelman F. ISCN 2005: an international system for human cytogenetic nomenclature. Basel: Karger; 2005.
26. Baens M, Peeters P, Guo C, Aerssens J, Marynen P. Genomic organization of TEL: the human ETS-variant gene 6. Genome Res 1996;6:404-13.
27. Konig M, Reichel M, Marschalek R, Haas OA, Strehl S. A highly specific and sensitive fluorescence in situ hybridization assay for the detection of t(4;11)(q21;q23) and concurrent submicroscopic deletions in acute leukaemias. Br J Haematol 2002;116:758-64.
28. Strehl S, Konig M, Mann G, Haas OA. Multiplex reverse transcriptase-polymerase chain reaction screening in childhood acute myeloblastic leukemia. Blood 2001;97:805-8.
29. Schneider NR, Carroll AJ, Shuster JJ, et al. New recurring cytogenetic abnormalities and association of blast cell karyotypes with prognosis in childhood T-cell acute lymphoblastic leukemia: a pediatric oncology group report of 343 cases. Blood 2000;96:2543-9.
30. Carapeti M, Aguiar RC, Goldman JM, Cross NC. A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. Blood 1998;91:3127-33.
31. Breit S, Stanulla M, Flohr T, et al. Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia. Blood 2006;108:1151-7.
32. Liang J, Prouty L, Williams BJ, Dayton MA, Blanchard KL. Acute mixed lineage leukemia with an inv(8)(p11q13) resulting in fusion of the genes for MOZ and TIF2. Blood 1998;92:2118-22.
33. Deguchi K, Ayton PM, Carapeti M, et al. MOZTIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP. Cancer Cell 2003;3:259-71.
34. Collins HM, Kindle KB, Matsuda S, et al. MOZ-TIF2 alters cofactor recruitment and histone modification at the RARβ2 promoter: differential effects of MOZ fusion proteins on CBP-and MOZ-dependent activators. J Biol Chem 2006;281:17124-33.
35. Kindle KB, Troke PJ, Collins HM, et al. MOZ-TIF2 inhibits transcription by nuclear receptors and p53 by impairment of CBP function. Mol Cell Biol 2005;25:988-1002.
36. Matsuda S, Harries JC, Viskaduraki M, et al. A conserved α-helical motif mediates the binding of diverse nuclear proteins to the SRC1 interaction domain of CBP. J Biol Chem 2004;279:14055-64.
37. Kasper LH, Brindle PK, Schnabel CA, Pritchard CE, Cleary ML, van Deursen JM. CREB binding protein interacts with nucleoporin-specific FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity. Mol Cell Biol 1999;19:764-76.
38. Sobulo OM, Borrow J, Tomek R, et al. MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). Proc Natl Acad Sci U S A 1997;94:8732-7.
39. Rowley JD, Reshmi S, Sobulo O, et al. All patients with the t(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. Blood 1997;90:535-41.
40. Taki T, Sako M, Tsuchida M, Hayashi Y. The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. Blood 1997;89:3945-50.
41. Ida K, Kitabayashi I, Taki T, et al. Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13). Blood 1997;90:4699-704.
42. Borrow J, Stanton VP, Jr., Andresen JM, et al. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. Nat Genet 1996;14:33-41.
43. Kitabayashi I, Aikawa Y, Yokoyama A, et al. Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8;22)(p11;q13) chromosome translocation. Leukemia 2001;15:89-94.
44. Chaffanet M, Gressin L, Preudhomme C, Soenen-Cornu V, Birnbaum D, Pebusque MJ. MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). Genes Chromosomes Cancer 2000;28:138-44.
45. Panagopoulos I, Fioretos T, Isaksson M, et al. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). Hum Mol Genet 2001;10:395-404.
46. Schmidt CA, Przybylski GK. What can we learn from leukemia as for the process of lineage commitment in hematopoiesis? Int Rev Immunol 2001;20:107-15.
47. + lympho-myeloid stem cells lacking erythro-megakaryocytic potential a revised road map for adult blood lineage commitment. Cell 2005;121:295-306.
48. Haddad R, Guardiola P, Izac B, et al. Molecular characterization of early human T/NK and B-lymphoid progenitor cells in umbilical cord blood. Blood 2004;104:3918-26.
49. Katsura Y. Redefinition of lymphoid progenitors. Nat Rev Immunol 2002;2:127-32.
50. Lai AY, Kondo M. Asymmetrical lymphoid and myeloid lineage commitment inmultipotent hematopoietic progenitors. J Exp Med 2006;203:1867-73.
51. Prohaska SS, Scherer DC, Weissman IL, Kondo M. Developmental plasticity of lymphoid progenitors. Semin Immunol 2002;14:377-84.
52. Weerkamp F, Baert MR, Brugman MH, et al. Human thymus contains multipotent progenitors with T/B lymphoid, myeloid, and erythroid lineage potential. Blood 2006;107:3131-7.
53. Huntly BJ, Shigematsu H, Deguchi K, et al. MOZ-TIF2, but not BCR-ABL, confers properties of leukemic stem cells to committed murine hematopoietic progenitors. Cancer Cell 2004;6:587-96.
54. Krivtsov AV, Twomey D, Feng Z, et al. Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 2006;442:818-22.