Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation

Blood

Volumn 104, Issue 5, 2004, Pages 1474-1481

  Christiansen, Debes H ^a   Andersen, Mette K ^a   Pedersen Bjergaard, Jens ^a  

^a Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; AZATHIOPRINE; BLEOMYCIN; BUSULFAN; CARBOPLATIN; CHLORAMBUCIL; CHLORMETHINE; CISPLATIN; CYCLOPHOSPHAMIDE; DACARBAZINE; DIHYDROXYBUSULFAN; DOXORUBICIN; ETOPOSIDE; FLUDARABINE; FLUOROURACIL; IFOSFAMIDE; LOMUSTINE; METHOTREXATE; MITOXANTRONE; PREDNISONE; PROCARBAZINE; RUFOCROMOMYCIN; TAMOXIFEN; TAUROMUSTINE; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; VINBLASTINE; VINCRISTINE;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CARBOXY TERMINAL SEQUENCE; CARCINOMA; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HEMATOPOIESIS; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKEMIA; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYELODYSPLASIA; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK FACTOR; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SURVIVAL TIME; TRANSACTIVATION;

EID: 4444302228     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-02-0754     Document Type: Article

References (38)

1. Michaud J, Scott HS, Escher R. AML1 interconnected pathways of leukemogenesis. Cancer Invest. 2003;21:105-136.
2. Speck NA, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer. 2002;2:502-513.
3. Downing JR. The core-binding factor leukemias: lessons learned from murine models. Curr Opin Genet Dev. 2003;13:48-54.
4. Osato M, Asou N, Abdalla E, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP1αB gene associated with myeloblastic leukemias. Blood. 1999;93:1817-1824.
5. Preudhomme C, Warot-Loze D, Roumier C, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP1αB gene in Mo acute myeloid leukemia and in myeloid malignancies with aquired trisomy 21. Blood. 2000;96;2862-2869.
6. Imai Y, Kurokawa M, Izutsu K, et al. Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis. Blood. 2000:96;3154-3160.
7. Harada H, Harada Y, Tanaka H, Kimura A, Inaba T. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood. 2003;101:673-680.
8. 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.
9. 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.
10. Song W-J, Sullivan GM, Legare RD, et al. Haploin-sufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukemia. Nature Genet. 1999:23;166-175.
11. Buijs A, Poddighe P, van Wijk R, et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood. 2001;98:2856-2858.
12. Michaud J, Wu F, Osato M, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99:1364-1372.
13. Rowley JD, Golomb HM, Vardiman JW. Nonrandom chromosome abnormalities in acute leukemia and dysmyelopoietic syndromes in patients with previously treated malignant disease. Blood. 1981;58:759-767.
14. Le Beau MM, Albain KS, Larson RA, et al. Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7. J Clin Oncol. 1986;4:325-345.
15. Pedersen-Bjergaard J, Philip P, Larsen SO, Jensen G, Byrsting K. Chromosome aberrations and prognostic factors in therapy-related myelodysplasia and acute nonlymphocytic leukemia. Blood. 1990;76:1083-1091.
16. Pedersen-Bjergaard J, Pedersen M, Roulston D, Philip P. Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia. Blood. 1995;86:3542-3552.
17. Smith SM, Le Beau MM, Huo D, et al. Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series. Blood. 2003;102:43-52.
18. Pedersen-Bjergaard J, Andersen MK, Christiansen DH, Nerlov C. Genetic pathways in therapy-related myelodysplasia and acute myeloid leukemia. Blood. 2002;99:1909-1912.
19. Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations with loss of heterozygosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis. J Clin Oncol. 2001;19:1405-1413.
20. INK4B is common, is associated with deletion of genes on chromosome arm 7q and predicts a poor prognosis in therapy-related myelodysplasia and acute myeloid leukemia. Leukemia. 2003;17:1813-1819.
21. Christiansen DH, Pedersen-Bjergaard J. Internal tandem duplications of the FLT3 and MLL genes are mainly observed in atypical cases of therapy-related acute myeloid leukemia with a normal karyotype and are unrelated to type of previous therapy. Leukemia. 2001;15:1848-1851.
22. Pedersen-Bjergaard J, Timshel S, Andersen MK, Andersen AS, Philip P. Cytogenetically unrelated clones in therapy-related myelodysplasia and acute myeloid leukemia: experience from the Copenhagen series updated to 180 consecutive cases. Genes Chromosomes Cancer. 1998;23:337-349.
23. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079-2088.
24. Kaneko H, Misawa S, Horiike S, et al. TP53 mutations emerge at early phase of myelodysplastic syndrome and are associated with complex chromosomal abnormalities. Blood. 1995;85:2189-2193.
25. Horiike S, Yokota S, Nakao M, et al. Tandem duplications of the FLT3 receptor gene are associated with leukemic transformation of myelodysplasia. Leukemia. 1997;11:1442-1446.
26. Shih LY, Huang CF, Wang PN, et al. Acquisition of FLT3 or N-ras mutations is frequently associated with progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia. 2004;18:466-475.
27. INK4B gene in myelodysplastic syndromes. Blood. 1997;90:1403-1409.
28. INK4b gene in myelodysplastic syndromes is frequent and acquired during disease progression. Blood. 1998;91:2985-2990.
29. Yoshida T, Kanegane H, Osato M, et al. Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. Blood Cells Mol Dis. 2003;30:184-193.
30. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dymanics. Nat Rev Mol Cell Biol. 2004;5:89-99.
31. Ayton PM, Cleary ML. Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins. Oncogene. 2001;20:5695-5707.
32. Zelent A, Guidez F, Melnick A, Waxman S, Licht JD. Translocations of the RARalpha gene in acute promyelocytic leukemia. Oncogene. 2001;20:7186-7203.
33. Fenaux P, Jonveaux P, Quiquandon I, et al. p53 gene mutations in acute myeloid leukemia with 17p monosomy. Blood. 1991;78:1652-1657.
34. Caligiuri MA, Strout MP, Oberkircher AR, Yu F, de la Chapelle A, Bloomfield CD. The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome. Proc Natl Acad Sci U S A. 1997;94:3899-3902.
35. Horiike S, Misawa S, Kaneko H, et al. Distinct genetic involvement of the TP53 gene in therapy-related leukemia and myelodysplasia with chromosomal losses of Nos 5 and/or 7 and its possible relationship to replication error phenotype. Leukemia. 1999;13:1235-1242.
36. Castro PD, Liang JC, Nagarajan L. Deletions of chromosome 5q13.3 and 17p loci cooperate in myeloid neoplasms. Blood. 2000;95:2138-2143.
37. Au WY, Fung A, Man C, et al. Aberrant p15 gene promoter methylation in therapy-related myelodysplastic syndrome and acute myeloid leukaemia: clinicopathological and karyotypic associations. Br J Haematol. 2003;120:1062-1065.
38. + hematopoietic stem/progenitor cells reveals distinct subtypes of therapy-related acute myeloid leukemia. Proc Natl Acad Sci U S A. 2002;99:14925-14930.