Mutations of AML1 in non-MO acute myeloid leukemia: Six novel mutations and a high incidence of cooperative events in a South-east Asian population

Haematologica

Volumn 91, Issue 5, 2006, Pages 675-678

  Auewarakul, Chirayu U ^a,b   Leecharendkeat, Amporn ^a   Thongnoppakhun, Wanna ^b   Limwongse, Chanin ^a,b   Tocharoentanaphol, Chintana ^b  

^a MAHIDOL UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

Author keywords

AML1 gene; Co operative mutations; De novo acute leukemia; Novel AML1 mutations; Thailand

Indexed keywords

FLT3 LIGAND; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER INCIDENCE; CANCER SCREENING; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENETIC ASSOCIATION; GEOGRAPHIC DISTRIBUTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHEAST ASIA; THAILAND;

ACUTE DISEASE; ADOLESCENT; ADULT; AGED; ASIA, SOUTHEASTERN; CELL TRANSFORMATION, NEOPLASTIC; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXONS; FEMALE; HUMANS; INTRONS; LEUKEMIA, MYELOID; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; THAILAND;

EID: 33744465781     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Lo Coco F, Pisegna S, Diverio D. The AML1 gene: a transcription factor involved in the pathogenesis of myeloid and lymphoid leukemias. Haematologica 1997;82:364-70.
2. Kurokawa M, Hirai H. Role of AML1/Runx1 in the pathogenesis of hematological malignancies. Cancer Sci 2003;94:841-6.
3. 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.
4. Amadori S, Venditti A, Del Poeta G, Stasi R, Buccisano F, Bruno A, et al. Minimally differentiated acute myeloid leukemia (AML-M0): a distinct clinicobiologic entity with poor prognosis. Ann Hematol 1996;72:208-15.
5. Preudhomme C, Warot-Loze D, Roumier C, Grardel-Duflos N, Garand R, Lai JL, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2αB gene in M0 acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 2000;96:2862-9.
6. Roumier C, Eclache V, Imbert M, Davi F, MacIntyre E, Garand R, et al. M0 AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases by the Groupe Francais d'Hematologie Cellulaire (GFHC) and the Groupe Francais d' Hematologie Cellulaire (GFHC) and the Groupe Francais de Cytogenetique Hematologique (GFCH). Blood 2003;101:1277-83.
7. Langabeer SE, Gale RE, Rollingson SJ, Morgan GJ, Linch DC. Mutations of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7. Genes Chromosome Cancer 2002;34:24-32.
8. Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, et al. Biallelic and heterozygous point mutations in the Runt domain of the AML1/PEBP2aB gene associated with myeloblastic leukemias. Blood 1999;93:1817-24.
9. Taketani T, Taki T, Takita J, Tsuchida M, Hanada R, Hongo T, et al. AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. Genes Chromosomes Cancer 2003;38:1-7.
10. Matsuno N, Osato M, Yamashita N, Yanagida M, Nanri T, Fukushima T, et al. Dual mutations in the AML1 and FLT3 genes are associated with leukemogenesis in acute myeloblastic leukemia of the M0 subtype. Leukemia 2003;17:2492-9.
11. 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;103:2316-24.
12. Nakao M, Horiike S, Fukushima-Nakase Y, Nishimura M, Fujita Y, Taniwaki M, et al. Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic leukaemia and myelodysplastic syndrome. Br J Haematol 2004;125:709-19.
13. Warner JK, Wang JCY, Takenaka K, Doulatov S, McKenzie JL, Harrington L, et al. Direct evidence for cooperating genetic events in the leukemic transformation of normal human hematopoietic cells. Leukemia 2005;19:1794-805.
14. Kelly LM, Gilliland DG. Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet 2002;3:179-98.
15. Mitelman F, editor. ISCN 1995: An International System for Human Cytogenetic Nomenclature 1995. Basel. Switzerland: S Karger. 1995.
16. Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995;9:1783-6.
17. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR, et al. Proposed revised criteria for the classification of acute myeloid leukemia. Ann Int Med 1985;103:620-5.
18. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-302.
19. Auewarakul CU, Sritana N, Limwongse C, Thongnoppakhun W, Yenchitsomanus P. Mutation of FLT3 gene in adult acute myeloid leukemia: determination of incidence and identification of a novel mutation in Thai population. Cancer Genet Cytogenet 2005;162:127-34.
20. Tahirov TH, Inoue-Bungo-T, Morii H, Fujikawa A, Sasaki M, Kimura K, et al. Structural analysis of DNA recognition by the AML1/Runx-1 runt domain and its allosteric control by CBF. Cell 2001;104:755-67.