Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias

European Journal of Haematology

Volumn 65, Issue 1, 2000, Pages 40-51

  Andreasson, Patrik ^a   Höglund, Mattias ^a   Békássy, Albert N ^a   Garwicz, Stanislaw ^a   Heldrup, Jesper ^a   Mitelman, Felix ^a   Johansson, Bertil ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CBFA2; CDKN2; Childhood ALL; Cytogenetics; ETV6; FISH; MLL

Indexed keywords

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CHILD; CHROMOSOME ABERRATION; CYTOGENETICS; DIAGNOSTIC VALUE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; PRIORITY JOURNAL; SWEDEN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 9; CLONE CELLS; DNA PROBES; FEMALE; HUMANS; IMMUNOPHENOTYPING; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LEUKEMIA, LYMPHOCYTIC, ACUTE, L1; LEUKEMIA, PRE-B-CELL; LEUKOCYTE COUNT; MALE; ONCOGENES; SWEDEN; TRANSLOCATION, GENETIC; TREATMENT OUTCOME; TUMOR STEM CELLS;

EID: 0033948647     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2000.90190.x     Document Type: Article

References (70)

1. 1. MITELMAN F. Catalog of Chromosome Aberrations in Cancer. CD-ROM. Version 1. New York: Wiley-Liss, 1998.
2. 2. RUBIN CM, LE BEAU MM, MICK R, et al. Impact of chromosomal translocations on prognosis in childhood acute lymphoblastic leukemia. J Clin Oncol 1991;9:2183-2192.
3. 3. PUI C-H, CRIST WM. Cytogenetic abnormalities in childhood acute lymphoblastic leukemia correlate with clinical features and treatment outcome. Leuk Lymphoma 1992;7:259-274.
4. 4. Groupe Français de Cytogénétique Hématologique. Collaborative study of karyotypes in childhood acute lymphoblastic leukemias. Leukemia 1993;7:10-19.
5. 5. HARBOTT J, RITTERBACH J, LUDWIG W-D, BARTRAM CR, REITER A, LAMPERT F. Clinical significance of cytogenetic studies in childhood acute lymphoblastic leukemia: experience of the BFM trials. Recent Results Cancer Res 1993;131:123-132.
6. 6. HEIM S, MITELMAN F. Cancer Cytogenetics, 2nd edn. New York: Wiley-Liss, 1995.
7. 7. CHESSELS JM, SWANSBURY GJ, REEVES B, BAILEY CC, RICHARDS SM. Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of the MRC UKALL X. Br J Haematol 1997;99:93-103.
8. 8. FORESTIER E, JOHANSSON B, BORGSTRÖM G, KENDRUP G, JOHANSSON J, HEIM S. Cytogenetic findings in a population-based series of 787 childhood acute lymphoblastic leukemias from the Nordic countries. Eur J Haematol 2000; in press.
9. 9. RIBEIRO RC, ABROMOWITCH M, RAIMONDI SC, MURPHY SB, BEHM F, WILLIAMS DL. Clinical and biologic hallmarks of the Philadelphia chromosome in childhood acute lymphoblastic leukemia. Blood 1987;70:948-953.
10. INK4 gene inactivation in childhood acute lymphocytic leukemia. J Clin Oncol 1996;14:1512-1520.
11. 11. BEYERMANN B, ADAMS H-P, HENZE G. Philadelphia chromosome in relapsed childhood acute lymphoblastic leukemia; a matched-pair analysis. J Clin Oncol 1997;15:2231-2237.
12. 12. KEES UR, BURTON PR, LU C, BAKER DL. Homozygous deletion of the p16IMTS1 gene in pediatric acute lymphoblastic leukemia is associated with unfavorable clinical outcome. Blood 1997;89:4161-4166.
13. 13. RAIMONDI SC, PUI C-H, HANCOCK ML, BEHM FG, FILATOV L, RIVERA GK. Heterogeneity of hyperdiploid (51 67) childhood acute lymphoblastic leukemia. Leukemia 1996;10: 213-224.
14. 14. BORKHARDT A, CAZZANIGA G, VIEHMANN S, 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. Blood 1997;90:571-577.
15. 15. MCLEAN TW, RINGOLD S, NEUBERG D, et al. TEL/AML-1 dimerizes and is associated with a favorable outcome in childhood acute lymphoblastic leukemia. Blood 1996;88: 4252-4258.
16. 16. RUBNITZ JE, DOWNING JR, PUI C-H, et al. TEL gene rearrangement in acute lymphoblastic leukemia: a new genetic marker with prognostic significance. J Clin Oncol 1997;15:1150-1157.
17. 17. SHURTLEFF SA, BUIJS A, BEHM FG, et al. TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pedriatic ALL and defines a subgroup of patients with an excellent prognosis. Leukemia 1995;9:1985-1989.
18. 18. OGAWA S, HIRANO N, SATO N, et al. Homozygous loss of the cyclin-dependent kinase 4-inhibitor (p16) gene in human leukemias. Blood 1994;84:2431-2435.
19. 19. ROMANA SP, LE CONIAT M, BERGER R. t(12;21): A new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer 1994;9:186-191.
20. INK4b/MTS2 in pediatric acute lymphoblastic leukemia. Blood 1995;85:2321-2330.
21. 21. MARTINEZ-CLIMENT JA, THIRMAN MJ, ESPINOSA III R, LE BEAU MM, ROWLEY JD. Detection of 11q23/MLL rearrangements in infant leukemias with fluorescence in situ hybridization and molecular analysis. Leukemia 1995;9:1299-1304.
22. 22. BERGER R, LE CONIAT M, FLEXOR M-A, LEBLANC T. Translocation t(10;11) involving the MLL gene in acute myeloid leukemia. Importance of fluorescence in situ hybridization (FISH) analysis. Ann Génét 1996;39:147-151.
23. 23. POIREL H, RACK K, DELABESSE E, et al. Incidence and characterization of MLL gene (11q23) rearrangements in acute myeloid leukemia M1 and M5. Blood 1996;87:2496-2505.
24. 24. RAIMONDI SC, PEIPER SC, KITCHINGMAN GR, et al. Childhood acute lymphoblastic leukemia with chromosomal breakpoints at 11q23. Blood 1989;73:1627-1634.
25. 25. BEHM FG, RAIMONDI SC, FRESTEDT JL, et al. Rearrangement of the MLL gene confers a poor prognosis in childhood acute lymphoblastic leukemia, regardless of presenting age. Blood 1996;87:2870-2877.
26. 26. KOBAYASHI H, SATAKE N, MASEKI N, SAKASHITA A, KANEKO Y. The der(21)t(12;21) chromosome is always formed in a 12;21 translocation associated with childhood acute lymphoblastic leukaemia. Br J Haematol 1996;94:105-111.
27. 27. EGUCHI-ISHIMAE M, EGUCHI M, TANAKA K, et al. Fluorescence in situ hybridization analysis of 12;21 translocation in Japanese childhood acute lymphoblastic leukemia. Jpn J Cancer Res 1998;89:783-788.
28. 28. NAKAO M, YOKOTA S, HORIIKE S, et al. Detection and quantification of TEL/AML1 fusion transcripts by polymerase chain reaction in childhood acute lymphoblastic leukemia. Leukemia 1996;10:1463-1470.
29. 29. INAMDAR N, KUMAR SA, BANAVALI SD, ADVANI S, MAGRATH I, BHATIA K. Comparative incidence of the rearrangements of TEL/AML1 and ALL1 genes in pediatrie precursor B acute lymphoblastic leukemias in India. Int J Cancer 1998;13: 1319-1322.
30. 30. MITELMAN F (ed); ISCN (1995). An International System for Human Cytogenetic Nomenclature. Basel: S. Karger, 1995.
31. 31. ANDREASSON P, JOHANSSON B, ARHEDEN K, BILLSTRÖM R, MITELMAN F, HÖGLUND M. Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities. Genes Chromosomes Cancer 1997;19:77-83.
32. 32. KOBAYASHI H, MONTGOMERY KT, BOHLANDER SK, et al. Fluorescence in situ hybridization mapping of translocations and deletions involving the short arm of human chromosome 12 in malignant hematologic diseases. Blood 1994;84: 3473-3482.
33. 33. BOWER M, CHAPLIN T, DAS S, et al. The isolation of an artificial chromosome which spans the chromosome 11q23 region involved in a number of translocations in acute leukemia. Leukemia 1993;7(suppl. 2):S34-S39.
34. 34. CHERIF D, BERNARD O, PAULIEN S, JAMES MR, LE PASLIER D, BERGER R. Hunting 11q23 deletions with fluorescence in situ hybridization (FISH). Leukemia 1994;8:578-586.
35. 35. ROMANA SP, MAUCHAUFFÉ M, LE CONIAT M, et al. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. Blood 1995;85:3662-3670.
36. 36. BAENS M, PEETERS P, GUO C, AERSSENS J, MARYNEN P. Genomic organization of TEL: the human ETS-variant gene 6. Genome Res 1996;6:404-413.
37. 37. DREYLING MH, BOHLANDFR SK, LE BEAU MM, OLOPADE OI. Refined mapping of genomic rearrangements involving the short arm of chromosome 9 in acute lymphoblastic leukemias and other hematologic malignancies. Blood 1995;86:1931 1938.
38. 38. ANDREASSON P, JOHANSSON B, CARLSSON M, et al. BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. Genes Chromosomes Cancer 1997;20:299-304.
39. 39. PUI C-H, WILLIAMS DL, ROBERTSON PK, et al. Correlation of karyotype and immunophenotype in childhood acute lymphoblastic leukemia. J Clin Oncol 1988;6:56-61.
40. 40. KOBAYASHI H, MASEKI N, HOMMA C, SAKURAI M, KANEKO Y. Clinical significance of chromosome abnormalities in childhood acute lymphoblastic leukemia in Japan. Blood 1994;8: 1944-1950.
41. 41. ROMANA SP, POIREL H, LECONIAT M, et al. High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. Blood 1995;86:4263-4269.
42. 42. LIANG D-C, CHOU T-B, CHEN J-S, 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.
43. 43. RAYNAUD S, CAVÉ H, BAENS M, et al. The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia. Blood 1996;87:2891-2899.
44. 44. RUBNITZ JE, SHUSTER JJ, LAND VJ, et al. Case-control study suggests a favorable impact of TEL rearrangement in patients with B-lineage acute lymphoblastic leukemia treated with antimetabolite-based therapy: a Pediatric Oncology Group study. Blood 1997;89:1143-1146.
45. 45. RUBNITZ JE, BEHM FG, PUI CH, et al. Genetic studies of childhood acute lymphoblastic leukemia with emphasis on p16, MLL, and ETV6 gene abnormalities: results of St Jude Total Therapy Study XII. Leukemia 1997;11:1201-1206.
46. 46. HRUŠÁK O, TRKA J, ZUNA J, HOUSKOVÁ J, BARTUNKOVÁ J, STARÝ J. Aberrant expression of the KOR-SA3544 antigen in childhood acute lymphoblastic leukemia predicts TEL-AML1 negativity. Leukemia 1998;12:1064-1070.
47. 47. TAKAHASHI Y, HORIBE K, KIYOI H, et al. Prognostic significance of TEL/AML1 fusion transcript in childhood B-precursor acute lymphoblastic leukemia. J Pediatr Hematol Oncol 1998;20:190-195.
48. 48. BOROWITZ MJ, RUBNITZ J, NASH M, PULLEN DJ, CAMITTA B. Surface antigen phenotype can predict TEL-AML1 rearrangement in childhood B-precursor ALL: a Pediatric Oncology Group study. Leukemia 1998;12:1764-1770.
49. 49. ANDREASSON P, JOHANSSON B, ARHEDEN K, et al. Emergence of novel transient clonal chromosomal bone marrow changes in remission of acute lymphoblastic leukemia. Leukemia 1996;10: 378-383.
50. 50. PUI C-H. Childhood leukemias. N Engl J Med 1995;332: 1618-1630.
51. 51. HEIM S, BÉKÀSSY AN, GARWICZ S, et al. Bone marrow karyotypes in 94 children with acute leukemia. Eur J Haematol 1991;44:227-233.
52. 52. FEARS S, VIGNON C, BOHLANDER SK, SMITH S, ROWLEY JD, NUCIFORA G. Correlation between the ETV6/CBFA2 (TEL/ AML1) fusion gene and karyotypic abnormalities in children with B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer 1996;17:127-135.
53. 53. JOHANSSON B, MERTENS F, MITELMAN F. Geographic heterogeneity of neoplasia-associated chromosome aberrations. Genes Chromosomes Cancer 1991;3:1-7.
54. 54. ANDREASSON P, JOHANSSON B, STRÖMBECK B, DONNÉR M, MITELMAN F, HÖGLUND M. Childhood acute lymphoblastic leukaemia with ider(21)(q10)t(12;21)(p12;q22): A new recurrent abnormality showing ETV6/CBFA2 fusion. Br J Haematol 1997;98:216-218.
55. 55. KEMPSKI H, CHALKER J, CHESSELLS J, et al. An investigation of the t(12;21) rearrangement in children with B-precursor acute lymphoblastic leukaemia using cytogenetic and molecular methods. Br J Haematol 1999;105:684-689.
56. 56. LONCAREVIC I, ROITZHEIM B, RITTERBACH J, et al. Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion. Genes Chromosomes Cancer 1999;24:272-277.
57. 57. UCHIDA H, DOWNING JR, MIYAZAKI Y, FRANK R, ZHANG J, NIMER SD. Three distinct domains in TEL-AML1 are required for transcriptional repression of the IL-3 promoter. ncogene 1999;18:1015-1022.
58. 58. ANGUITA E, GONZÁLEZ FA, LÓPEZ J, VILLEGAS A. TEL/AML1 transcript and p16 gene deletion in a patient with childhood acute lymphoblastic leukaemia. Br J Haematol 1997;99: 240-241.
59. 59. KIM D-H, MOLDWIN RL, VIGNON C, et al. TEL-AML1 translocations with TEL and CDKN2 inactivation in acute lymphoblastic leukemia cell lines. Blood 1996;88:785-794.
60. 60. STEGMAIER K, PENDSE, S, BARKER GF, et al. Frequent loss of heterozygosity at the TEL gene locus in acute lymphoblastic leukemia of childhood. Blood 1995;86:38-44.
61. 61. FORD AM, BENNETT CA, PRICE CM, BRUIN MCA, VAN WERING ER, GREAVES M. Fetal origins of the TEL-AML1 fusion gene in identical twins with leukemia. Proc Natl Acad Sci USA 1998;95:4584-4588.
62. 62. WIEMELS JL, FORD AM, VAN WERING ER, POSTMA A, GREAVES M. Protracted and variable latency of acute lymphoblastic leukemia after TEL-AML1 gene fusion in utero. Blood 1999;94:1057-1062.
63. 63. TEMPERANI P, LUPPI M, GIACOBBI F, etal. Occurrence of a novel t(11;19)(q13;q13.3) incomplete remission of acute promyelocytic leukemia. Cytogenet Cell Genet 1998;101:35-38.
64. 64. JOHANSSON B, BILLSTRÖM R, KRISTOFFERSSON U, et al. Deletion of chromosome arm 3p in hematologic malignancies. Leukemia 1997;11:1207-1213.
65. 65. KÖHLER M, JOHANSSON B, GARWICZ S, HEIM S, MITELMAN F. No FISH evidence for trisomy 7 in normal or leukemic bone marrow. Cytogenet Cell Genet 1996;88:133-135.
66. 66. HÖGLUND M, JOHANSSON B, PEDERSFN-BJERGAARD J, MARYNEN P, MITELMAN F. Molecular characterization of 12p abnormalities in hematologie malignancies: Deletion of KIP1, rearrangement of TEL, and amplification of CCND2. Blood 1996;87:324-330.
67. 67. JOHANSSON B, ARHEDEN K, HÖGLUND M, et al. Fluorescence in situ hybridization analysis of whole-arm 7;12 translocations in hematologic malignancies. Genes Chromosomes Cancer 1995;14:56-62.
68. 68. MOORMAN AV, HAGEMEIJER A, CHARRIN C, RIEDER H, SECKER-WALKER LM. The translocations, t(11;19)(q23;p13.1) and t(11;19)(q23;p13.3): a cytogenetic and clinical profile of 53 patients. Leukemia 1998;12:805-810.
69. 69. HARRISON CJ, CUNEO A, CLARK R, et al. Ten novel 11q23 chromosomal partner sites. Leukemia 1998;12:811-822.
70. 70. ANDREASSON P, JOHANSSON B, BILLSTRÖM R, GARWICZ S, MITELMAN F, HÖGLUND M. Fluorescence in situ hybridization analyses of hematologic malignancies reveal frequent cytogenetically unrecognized rearrangements of 12p. Leukemia 1998;12:390-400.