Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: A study of 20 cases

Leukemia

Volumn 17, Issue 3, 2003, Pages 547-553

  Harewood, L ^a,d   Robinson, H ^a   Harris, R ^a   Jabbar Al Obaidi, M ^a   Jalali, G R ^a   Martineau, M ^a   Moorman, A V ^a   Sumption, N ^a   Richards, S ^b   Mitchell, C ^c   Harrison, C J ^a   Hagermeijer, Anne ^f   Berger, Roland ^f   Crolla, John ^e   Kempski, Helena ^f  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

^f NONE

Author keywords

Acute lymphoblastic leukemia; Amplified AML1; Duplicated chromosome 21

Indexed keywords

ACROCENTRIC CHROMOSOME; ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DIPLOIDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE CLUSTER; GENE IDENTIFICATION; HUMAN; IMMUNOPHENOTYPING; INTERPHASE; KARYOTYPE; LYMPHOCYTE COUNT; METAPHASE; PRIORITY JOURNAL;

EID: 0037348975     PISSN: 08876924     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.leu.2402849     Document Type: Article

References (29)

1. Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffe M, Jonveaux P et al. High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. Blood 1995; 86: 4263-4269.
2. Shurtleff SA, Buijs A, Behm FG, Rubnitz JE, Raimondi SC, Hancock ML et al. TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia 1995; 9: 1985-1989.
3. Liang DC, Chou TB, Chen JS, Shurtleff SA, Rubnitz JE, Downing JR et al. High incidence of TEL/AML1 fusion resulting from a cryptic t(12; 21) in childhood B-lineage acute lymphoblastic leukemia in Taiwan. Leukemia 1996; 10: 991-993.
4. Borkhardt A, Cazzaniga G, Viehmann S, Valsecchi MG, Ludwig WD, Burci L et al. Incidence and clinical relevance of TEL/AML1 fusion genes in children with acute lymphoblastic leukemia enrolled in the German and Italian multicenter therapy trials. Associazione Italiana Ematologia Oncologia Pediatrica and the Berlin-Frankfurt-Munster Study Group. Blood 1997; 90: 571-577.
5. Dube ID, el Solh H. An apparent tandem quadruplication of chromosome 21 in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1986; 23: 253-256.
6. Le Coniat M, Romana SP, Berger R. Partial chromosome 21 amplification in a child with acute lymphoblastic leukemia. Genes Chromosome Cancer 1995; 14: 204-209.
7. Baialardo EM, Felice MS, Rossi J, Barreiro C, Gallego MS. Tandem triplication and quadruplication of chromosome 21 in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1996; 92: 43-45.
8. Martineau M, Clark R, Farrell DM, Hawkins JM, Moorman AV, Secker-Walker LM. Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding. Genes Chromosome Cancer 1996; 17: 21-30.
9. Niini T, Kanerva J, Vettenranta K, Saarinen-Pihkala UM, Knuutila S. AML1 gene amplification: a novel finding in childhood acute lymphoblastic leukemia. Haematologica 2000; 85: 362-366.
10. Busson-Le Coniat M, Nguyen KF, Daniel MT, Bernard OA, Berger R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosome Cancer 2001; 32: 244-249.
11. Dal Cin P, Atkins L, Ford C, Ariyanayagam S, Armstrong SA, George R et al. Amplification of AML1 in childhood acute lymphoblastic leukemias. Genes Chromosome Cancer 2001; 30: 407-409.
12. Mathew S, Rao PH, Dalton J, Downing JR, Raimondi SC. Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia. Leukemia 2001; 15: 468-472.
13. Morel F, Herry A, Le Bris M-J, Douet-Guilbert N, Le Calvez G, Marion V et al. AML1 amplification in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 2002; 137: 142-145.
14. Penther D, Preudhomme C, Talmant P, Roumier C, Godon A, Mechinaud F et al. Amplification of AML1 gene is present in childhood acute lymphoblastic leukemia but not in adult, and is not associated with AML1 gene mutation. Leukemia 2002; 16: 1131-1134.
15. Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M et al. Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome. Genes Chromosome Cancer 1999; 26: 336-345.
16. Hilgenfeld E, Padilla-Nash H, McNeil N, Knutsen T, Montagna C, Tchinda J et al. Spectral karyotyping and fluorescence in situ hybridization detect novel chromosomal aberrations, a recurring involvement of chromosome 21 and amplification of the MYC oncogene in acute myeloid leukaemia M2. Br J Haematol 2001; 113: 305-317.
17. Streubel B, Valent P, Lechner K, Fonatsch C. Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21. Cancer Genet Cytogenet 2001; 124: 42-46.
18. Mrozek K, Heinonen K, Theil KS, Bloomfield CD. Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q. Genes Chromosome Cancer 2002; 34: 137-153.
19. 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/PEBP2alphaB gene associated with myeloblastic leukemias. Blood 1999; 93: 1817-1824.
20. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166-175.
21. Imai Y, Kurokawa M, Izutsu K, Hangaishi A, Takeuchi K, Maki K et al. Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis. Blood 2000; 96: 3154-3160.
22. 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/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 2000; 96: 2862-2869.
23. Kempski HM, Chessells JM, Reeves BR. Deletions of chromosome 21 restricted to the leukemic cells of children with Down syndrome and leukemia. Leukemia 1997; 11: 1973-1977.
24. Kempski HM, Craze JL, Chessells JM, Reeves BR. Cryptic deletions and inversions of chromosome 21 in a phenotypically normal infant with transient abnormal myelopoiesis: a molecular cytogenetic study. Br J Haematol 1998; 103: 473-479.
25. Harrison CJ, Martineau M, Secker-Walker LM. The Leukaemia Research Fund/United Kingdom Cancer Cytogenetics Group Karyotype Database in acute lymphoblastic leukaemia: a valuable resource for patient management. Br J Haematol 2001; 113: 3-10.
26. ISCN (1995). An International System for Human Cytogenetic Nomenclature, 1st edn. Basel: S Karger, 1995.
27. Najfeld V. Amplification of q22 chromosomal region of chromosome 21, including AML-1 gene, is a clonal marker in pediatric patients with acute lymphoblastic leukaemia (ALL). Blood 1998; 92: 396a.
28. Jabber Al-Obaidi MS, Martineau M, Bennett CF, Franklin IM, Goldstone AH, Harewood L et al. ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia. Leukemia 2002; 16: 669-674.
29. Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM et al. AML1 gene over-expression in childhood acute lymphoblastic leukemia. Leukemia 2002; 16: 658-668.