Genomic heterogeneity in acute leukemia

Cytogenetic and Genome Research

Volumn 139, Issue 3, 2013, Pages 174-180

  Paulsson, K ^a,b  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

Author keywords

Acute lymphoblastic leukemia; Acute myeloid leukemia; Cell to cell variation; Genetic aberration; Subclone

Indexed keywords

K RAS PROTEIN; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; CANCER PATIENT; CHILDHOOD CANCER; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CLONAL VARIATION; CYTOGENETICS; DIAGNOSTIC TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEMATOPOIETIC CELL; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; KARYOTYPE; KARYOTYPING; LEUKEMIA CELL; LEUKEMIA RELAPSE; LEUKEMOGENESIS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSGENIC MOUSE; TUMOR XENOGRAFT; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; ACUTE MYELOBLASTIC LEUKEMIA; ARTICLE; CLONAL EVOLUTION; GENE SEQUENCE; GENOMICS;

ANIMALS; CHROMOSOMAL INSTABILITY; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOID, ACUTE; LOSS OF HETEROZYGOSITY; MICE; MICE, TRANSGENIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; XENOGRAFT MODEL ANTITUMOR ASSAYS;

MUS MUSCULUS;

EID: 84877580332     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000346797     Document Type: Review

References (52)

1. Anderson K, Lutz C, van Delft FW, Bateman CM, Guo Y, et al: Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature 469: 356-361 (2011).
2. Andersson AK, Ma J, Wang J, Chen X, Rusch BA, et al: Whole genome sequence analysis of 22 MLL rearranged infant acute lymphoblastic leukemias reveals remarkably few somatic mutations: A report from the St Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project. 53rd ASH Annual Meeting and Exposition, San Diego, CA (2011). https://ash.confex. com/ash/2011/webprogram/Paper40274. html
3. Béné M-C, Castoldi G, Derolf A, Garand R, Haas T, et al: Near-tetraploid acute myeloid leukemias: An EGIL retrospective study of 25 cases. Leukemia 20: 725-728 (2006).
4. Berger R, Flandrin G, Bernheim A, Le Coniat M, Vecchione D, et al: Cytogenetic studies on 519 consecutive de novo acute nonlymphocytic leukemias. Cancer Genet Cytogenet 29: 9-21 (1987). (Pubitemid 17159851)
5. Berger R, Le Coniat M, Derré J, Vecchione D, Pacot A, et al: Cytogenetic studies on acute nonlymphocytic leukemia in relapse. Cancer Genet Cytogenet 34: 11-18 (1988).
6. Betts DR, Baugh OH, Gibbons B: Severe hypodiploidy with karyotype instability in a case of acute myeloid leukemia. Cancer Genet Cytogenet 74: 147-149 (1994). (Pubitemid 24208884)
7. Betts DR, Riesch M, Grotzer MA, Niggli FK: The investigation of karyotypic instability in the high-hyperdiploidy subgroup of acute lymphoblastic leukemia. Leuk Lymphoma 42: 187-193 (2001). (Pubitemid 32700936)
8. Blandin AT, Mühlematter D, Bougeon S, Gogniat C, Porter S, et al: Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia. Cancer Genet Cytogenet 186: 69-77 (2008).
9. Bresolin S, Giarin E, Trentin L, Hinrich Meyer L, Basso G, Kronnie G: Evolution of sub-clones with KRAS mutations in pediatric patients with MLL-AF4 rearrangements. 53rd ASH Annual Meeting and Exposition, San Diego, CA (2011). https://ash.confex.com/ash/2011/webprogram/Paper40619.html
10. Case M, Matheson E, Minto L, Hassan R, Harrison CJ, et al: Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. Cancer Res 68: 6803-6809 (2008).
11. Chucrallah AE, Stass SA, Huh YO, Albitar M, Kantarjian HM: Adult acute lymphoblastic leukemia at relapse. Cytogenetic, immunophenotypic, and molecular changes. Cancer 76: 985-991 (1995).
12. Davidsson J, Paulsson K, Lindgren D, Lilljebjörn H, Chaplin T, et al: Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: Presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations. Leukemia 24: 924-931 (2010).
13. Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, et al: Clonal evolution in relapsed acute myeloid leukaemia revealed by wholegenome sequencing. Nature 481: 506-510 (2012).
14. Garson OM, Hagemeijer A, Sakurai M, Reeves BR, Swansbury GJ, et al: Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse. Cancer Genet Cytogenet 40: 187-202 (1989). (Pubitemid 19235688)
15. Greif PA, Eck SH, Konstandin NP, Benet-Pagès A, Ksienzyk B, et al: Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia 25: 821-827 (2011).
16. Grossmann V, Kohlmann A, Klein H-U, Schindela S, Schnittger S, et al: Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure. Leukemia 25: 671-680 (2011).
17. Han J-Y, Theil KS, Hoeltge G: Frequencies and characterization of cytogenetically unrelated clones in various hematologic malignancies: Seven years of experiences in a single institution. Cancer Genet Cytogenet 164: 128-132 (2006). (Pubitemid 43129759)
18. Heerema NA, Palmer CG, Weetman R, Bertolone S: Cytogenetic analysis in relapsed childhood acute lymphoblastic leukemia. Leukemia 6: 185-192 (1992).
19. Heim S, Mitelman F: Cytogenetically unrelated clones in hematological neoplasms. Leukemia 3: 6-8 (1989). (Pubitemid 19022217)
20. Iyer RV, Sait SNJ, Matsui S-I, Block AW, Barcos M, et al: Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome. Cancer Genet Cytogenet 148: 29-34 (2004). (Pubitemid 38028513)
21. Johansson B, Mertens F, Heim S, Kristoffersson U, Mitelman F: Cytogenetics of secondary myelodysplasia (sMDS) and acute nonlymphocytic leukemia (sANLL). Eur J Haematol 47: 17-27 (1991).
22. Johansson B, Mertens F, Mitelman F: Primary vs. secondary neoplasia-associated chromosomal abnormalities-balanced rearrangements vs. genomic imbalances? Genes Chromosomes Cancer 16: 155-163 (1996). (Pubitemid 26231062)
23. Johansson B, Billström R, Broberg K, Fioretos T, Nilsson P-G, et al: Cytogenetic polyclonality in hematologic malignancies. Genes Chromosomes Cancer 24: 222-229 (1999). (Pubitemid 29070161)
24. Kaneko Y, Rowley JD, Variakojis D, Chilcote RR, Check I, Sakurai M: Correlation of karyotype with clinical features in acute lymphoblastic leukemia. Cancer Res 42: 2918-2929 (1982). (Pubitemid 12085769)
25. Kawamata N, Ogawa S, Seeger K, Kirschner-Schwabe R, Huynh T, et al: Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia. Int J Oncol 34: 1603-1612 (2009).
26. Kobayashi H, Kaneko Y, Maseki N, Sakurai M: Karyotypically unrelated clones in acute leukemias and myelodysplastic syndromes. Cancer Genet Cytogenet 47: 171-178 (1990). (Pubitemid 20226623)
27. Kohlmann A, Grossmann V, Harbich S, Dicker F, Alpermann T, et al: Monitoring of minimal residual disease using next-generation deepsequencing in 460 acute myeloid leukemia cases identifies RUNX1 mutated patients with resistant disease. 53rd ASH Annual Meeting and Exposition, San Diego, CA (2011). https://ash.confex.com/ash/2011/webprogram/Paper39892.html
28. Lengauer C, Kinzler KW, Vogelstein B: Genetic instability in colorectal cancers. Nature 386: 623-627 (1997). (Pubitemid 27175430)
29. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, et al: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456: 66-72 (2008).
30. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, et al: DNMT3A mutations in acute myeloid leukemia. N Engl J Med 363: 2424-2433 (2010).
31. Lilljebjörn H, Rissler M, Lassen C, Heldrup J, Behrendtz M, et al: Whole-exome sequencing of pediatric acute lymphoblastic leukemia. Leukemia 26: 1602-1607 (2012).
32. Luquet I, Laï JL, Barin C, Baranger L, Bilhou-Nabera C, et al: Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: A study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH). Leukemia 22: 132-137 (2008).
33. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, et al: Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361: 1058-1066 (2009).
34. Mitelman F, Johansson B, Mertens F: Mitelman database of chromosome aberrations and gene fusions in cancer. http://cgap.nci.nih. gov/Chromosomes/Mitelman (2012).
35. Moorman AV, Richards SM, Martineau M, Cheung KL, Robinson HM, et al: Outcome heterogeneity in childhood high-hyperdiploid acute lymphoblastic leukemia. Blood 102: 2756-2762 (2003). (Pubitemid 37248844)
36. Mullighan CG, Phillips LA, Su X, Ma J, Miller CB, et al: Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science 322: 1377-1380 (2008). (Pubitemid 352775249)
37. Musilová J, Michalová K, Zemanová Z, Brezinová J: Multiple unrelated clones in myelodysplastic syndrome and in acute myeloid leukemia. Cancer Genet Cytogenet 88: 141-143 (1996). (Pubitemid 26196292)
38. Notta F, Mullighan CG, Wang JC, Poeppl A, Doulatov S, et al: Evolution of human BCR-ABL1 lymphoblastic leukaemia-initiating cells. Nature 469: 362-367 (2011).
39. Nowell PC: The clonal evolution of tumor cell populations. Science 194: 23-28 (1976).
40. Papaemmanuil E, Rapado I, Ford AT, Raine K, Hinton J, et al: The genomic landscape of TEL-AML1 + (ETV6-RUNX1) acute lymphoblastic leukaemia. 53rd ASH Annual Meeting and Exposition, San Diego, CA (2011). https://ash.confex.com/ash/ 2011/webprogram/Paper38929.html
41. Paulsson K, Johansson B: High hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer 48: 637-660 (2009).
42. Peham M, Konrad M, Harbott J, König M, Haas OA, Panzer-Grümayer ER: Clonal variation of the immunogenotype in relapsed ETV6 /RUNX1-positive acute lymphoblastic leukemia indicates subclone formation during early stages of leukemia development. Genes Chromosomes Cancer 39: 156-160 (2004). (Pubitemid 38056089)
43. Pui C-H, Raskind WH, Kitchingman GR, Raimondi SC, Behm FG, et al: Clonal analysis of childhood acute lymphoblastic leukemia with 'cytogenetically independent' cell populations. J Clin Invest 83: 1971-1977 (1989). (Pubitemid 19148868)
44. Raimondi SC, Pui C-H, Head DR, Rivera GK, Behm FG: Cytogenetically different leukemic clones at relapse of childhood acute lymphoblastic leukemia. Blood 82: 576-580 (1993). (Pubitemid 23206124)
45. Raimondi SC, Pui C-H, Hancock ML, Behm FG, Filatov L, Rivera GK: Heterogeneity of hyperdiploid (51-67) childhood acute lymphoblastic leukemia. Leukemia 10: 213-224 (1996). (Pubitemid 26102884)
46. Secker-Walker LM, Alimena G, Bloomfield CD, Kaneko Y, Whang-Peng J, et al: Cytogenetic studies of 21 patients with acute lymphoblastic leukemia in relapse. Cancer Genet Cytogenet 40: 163-169 (1989). (Pubitemid 19235686)
47. Shikano T, Ishikawa Y, Ohkawa M, Hatayama Y, Nakadate H, et al: Karyotypic changes from initial diagnosis to relapse in childhood acute leukemia. Leukemia 4: 419-422 (1990). (Pubitemid 20204380)
48. Stark B, Jeison M, Gobuzov R, Finkelshtein S, Ash S, et al: Apparently unrelated clones shown by spectral karyotyping to represent clonal evolution of cryptic t(10; 11)(p13;q23) in a patient with acute monoblastic leukemia. Cancer Genet Cytogenet 120: 105-110 (2000). (Pubitemid 30609687)
49. Takeuchi S, Seriu T, van Dongen JJM, Szczepanski T, Tsukasaki K, et al: Allelotype analysis in relapsed childhood acute lymphoblastic leukemia. Oncogene 22: 6970-6976 (2003). (Pubitemid 37386699)
50. Talamo A, Chalandon Y, Marazzi A, Jotterand M: Clonal heterogeneity and chromosomal instability at disease presentation in high hyperdiploid acute lymphoblastic leukemia. Cancer Genet Cytogenet 203: 209-214 (2010).
51. van Delft FW, Horsley S, Colman S, Anderson K, Bateman C, et al: Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia. Blood 117: 6247-6254 (2011).
52. Zuna J, Ford AM, Peham M, Patel N, Saha V, et al: TEL deletion analysis supports a novel view of relapse in childhood acute lymphoblastic leukemia. Clin Cancer Res 10: 5355-5360 (2004). (Pubitemid 39100471)