RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL + leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

Blood

Volumn 111, Issue 7, 2008, Pages 3735-3741

  Roehe Lestienne, Catherine ^a,b,d   Deluche, Laureline ^a   Corm, Sélim ^c   Tigaud, Isabelle ^d   Joha, Sami ^a   Philippe, Nathalie ^e   Geffroy, Sandrine ^e   Laï, Jean Luc ^b   Nicolini, Franck Emmanuel ^d   Preudhomme, Claude ^a,e  

^a JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^b Centres Hospitaliers Univ Grenoble   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; CYCLOPHOSPHAMIDE; CYTARABINE; DASATINIB; DAUNORUBICIN; DEXAMETHASONE; HYBRID PROTEIN; HYDROXYUREA; IDARUBICIN; IMATINIB; INTERFERON; RUNX1 PRDM16 FUSION PROTEIN; STEROID; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; VINCRISTINE; ANTINEOPLASTIC AGENT; DNA BINDING PROTEIN; PIPERAZINE DERIVATIVE; PRDM16 PROTEIN, HUMAN; PYRIMIDINE DERIVATIVE; RUNX1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; AGED; ARTICLE; BLAST CELL CRISIS; CANCER GROWTH; CANCER PATIENT; CHROMOSOME 1P; CHROMOSOME 21; CHRONIC MYELOID LEUKEMIA; CLINICAL ARTICLE; CLONE; FEMALE; FUSION GENE; GENE; GENE FREQUENCY; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRDM16 GENE; PRIORITY JOURNAL; PROTEIN DNA BINDING; RUNX1 GENE; RUNX1 PRDM16 FUSION GENE; TRISOMY 21; ACUTE DISEASE; CHEMICALLY INDUCED DISORDER; CHRONIC DISEASE; DISEASE FREE SURVIVAL; DRUG EFFECT; DRUG RESISTANCE; GENE TRANSLOCATION; GENETICS; HUMAN CHROMOSOME; LEUKEMIA; METABOLISM; MIDDLE AGED; MORTALITY; MYELODYSPLASTIC SYNDROME; RETROSPECTIVE STUDY; SURVIVAL RATE; TRISOMY;

ACUTE DISEASE; ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC AGENTS; BLAST CRISIS; CHROMOSOMES, HUMAN; CHRONIC DISEASE; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DISEASE-FREE SURVIVAL; DNA-BINDING PROTEINS; DRUG RESISTANCE, NEOPLASM; FEMALE; FUSION PROTEINS, BCR-ABL; HUMANS; LEUKEMIA; MALE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; PHENOTYPE; PIPERAZINES; POINT MUTATION; PYRIMIDINES; RETROSPECTIVE STUDIES; SURVIVAL RATE; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 43549086237     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2007-07-102533     Document Type: Article

References (34)

1. Goldman JM, Melo JV. Chronic myeloid leukemia: advances in biology and new approaches to treatment. N Engl J Med. 2003;349:1451-1464.
2. Ottmann OG, Wassmann B. Treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia. Hematology Am Soc Hematol Educ Program. 2005;118-122.
3. Deininger M, Buchdunger E, Druker BJ. The development of imatinib as a therapeutic agent for chronic myeloid leukemia. Blood. 2005;105:2640-2653.
4. Thomas X. Boiron JM, Huguet F, et al. Outcome of treatment in adults with acute lymphoblastic leukemia: analysis of the LALA-94 trial. J Clin Oncol. 2004;22:4075-4086.
5. Calabretta B, Perrotti D. The biology of CML blast crisis. Blood. 2004;103:4010-4022.
6. Miething C, Grundler R, Mugler C, et al. Retroviral insertional mutagenesis identifies RUNX genes involved in chronic myeloid leukemia disease persistence under imatinib treatment. Proc Natl Acad Sci U S A. 2007;104:4594-4599.
7. Speck NA, Stacy T, Wang Q, et al. Core-binding factor: a central player in hematopoiesis and leukemia. Cancer Res. 1999;59:1789-1793.
8. Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L, Groner Y. AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics. 1994;23:425-432.
9. Preudhomme C, Warot-Loze D, Roumier C, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood. 2000;96:2862-2869.
10. Roumier C, Fenaux P, Lafage M, Imbert M, Eclache V, Preudhomme C. New mechanisms of AML1 gene alteration in hematological malignancies. Leukemia. 2003;17:9-16.
11. Corm S, Biggio V, Roche-Lestienne C, et al. Co-existence of AML1/RUNX1 and BCR-ABL point mutations in an imatinib-resistant form of CML. Leukemia. 2005:19:1991-1992.
12. Cuenco GM, Ren R. Cooperation of BCR-ABL and AML1/MDS1/EVI1 in blocking myeloid differentiation and rapid induction of an acute myelogenous leukemia. Oncogene. 2001;20:8236-8248.
13. Melo J V. The molecular biology of chronic myeloid leukemia. Leukemia. 1996;10:751-756.
14. Okuda T, Takeda K. Fujita Y, Nishimura M, et al. Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy. Mol Cell Biol. 2000;20:319-328.
15. Westendorf JJ, Yamamoto CM, Lenny N, Downing JR, Selsted ME, Hiebert SW. The t(8;21) fusion product, AML-1-ETO, associates with C/EBP-alpha, inhibits C/EBP-alpha-dependent transcription, and blocks granulocytic differentiation. Mol Cell Biol. 1998;18:322-333.
16. Tanaka K, TanakaT, Kurokawa M, Imai Y, et al. The AML1/ETO(MTG8) and AML1/Evi-1 leukemia-associated chimeric oncoproteins accumulate PEBP2beta(CBFbeta) in the nucleus more efficiently than wild-type AML1. Blood. 1998;91:1688-1699.
17. Stevens-Kroef MJ. Schoenmakers EF, van Kraaij M, et al. Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21 )(p36:q22)-positive therapy-related AML. Leukemia. 2006;20:1187-1189.
18. Sakai I, Tamura T, Narumi H, et al. Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21 )(p36;q22). Genes Chromosomes Cancer. 2005;44:265-270.
19. Hazourli S, Chagnon P Sauvageau M, Fetni R, Busque L, Hébert J. Overexpression of PRDM16 in the presence and absence of the RUNX1/ PRDM16 fusion gene in myeloid leukemias. Genes Chromosomes Cancer. 2006;45:1072-1076.
20. Baccarani M, Saglio G, Goldman J, et al. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood. 2006;108:1809-1820.
21. Roche-Lestienne C, Soenen-Cornu V, Grardel- Duflos N, et al. Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. Blood. 2002;100:1014-1018.
22. Mitelman F, ed. International System tor Cytogenetic Nomenclature: Guidelines tor Cancer Cytogenetics: Supplement to an International System for Human Cytogenetic Nomenclature. Basel, Switzerland: Karger; 1995.
23. Silva FR Lind A, Brouwer-Mandema G, Valk PJ, Giphart-Gassler M. Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-MO patients. Haematologica. 2007;92:1123-1126.
24. Branford S, Cross NC, Hochhous A, et al. Rationale for the recommendations for harmonizing current methodology for detecting BCR-ABL-transcripts in patients with chronic myeloid leukemia. Leukemia.2006;20:1925-1930.
25. Dicker F, Haferlach C, Kern W, Haferlach T, Schnittger S. Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. Blood. 2007;110:1308-1316.
26. Harada H, Harada Y, Niimi H, Kyo T Kimura A, Inaba T. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood. 2004;103:2316- 2324.
27. Osato M, Asou N, Abdalla E, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblasts leukemias. Blood. 1999;93:1817-1824.
28. Cammenga J. Niebuhr B, Horn S. et al. RUNX1 DNA-binding mutants, associated with minimally differentiated acute myelogenous leukemia, disrupt myeloid differentiation. Cancer Res. 2007;67:537-545.
29. Song WJ, Sullivan MG, Legare RD, et al. Haplo-insufficiency of GBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:134-135.
30. Auewarakul CU, Leecharendkeat A, Tocharoen-tanaphol C, Promsuwicha O, Sritana N, Thong-noppakhun W. AML1 mutation and its coexistence with different transcription factor gene families in de novo acute myeloid leukemia (AML): redundancy or synergism. Haematologica. 2007;92:861-862.
31. Mayotte N, Roy DG, Yao J, Kroon E, Sauvageau G. Oncogenic interaction between BCR-ABL and NU P98-HOXA9 demonstrated by the use of an in vitro purging culture system. Blood. 2002;100:4177-4184.
32. Du Y, Jenkins NA, Copeland NG. Insertional mutagenesis identifies genes that promote the immortalization of primary bone marrow progenitor cells. Blood. 2005;106:3932-3939.
33. Motoda L, Osato M, Yamashita N, et al. Runx1 protects hematopoietic stem/progenitor cells from oncogenic insult. Stem Cells. 2007;25:2976-2986.
34. Gilliland DG, Tallman MS. Focus on acute leukemias. Cancer Cell. 2002;1:417-420.