REVIEW PAPER
Significance of numerical chromosome abnormalities in children with acute leukaemias detected by flow cytometry
 
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Submission date: 2018-07-26
 
 
Final revision date: 2018-09-17
 
 
Acceptance date: 2018-09-17
 
 
Publication date: 2018-10-30
 
 
Pediatr Pol 2018;93(5):396-402
 
KEYWORDS
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ABSTRACT
Acute leukaemias (AL) constitute a heterogeneous group of diseases that differ in terms of immunophenotype, as well as structural and numerical chromosome alterations. In recent years research has revealed many genetic abnormalities in leukaemic cells. Some of them have already well-grounded diagnostic and prognostic significance in acute lymphoblastic leukaemia (ALL) and play an important role in patient risk stratification. Besides cytogenetics, which still remains a gold standard for the classification of AL, also flow cytometry can be useful in detecting abnormal numbers of chromosomes in leukemic blasts. The presence of DNA aneuploidy may be an early indicator of cytogenetic abnormality directly associated with response to therapy. High hyperdiploidy with 51–65 chromosomes and DNA index > 1.16 is a favourable prognostic factor in ALL in children, often related to CD123 antigen overexpression. The aim of this study was to summarise current knowledge about numerical chromosome abnormalities in AL diagnosed by flow cytometry.
REFERENCES (49)
1.
Gilliland DG, Tallman MS. Focus on acute leukemias. Cancer Cell 2002; 1: 417-420.
 
2.
Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976; 33: 451-458.
 
3.
Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995; 9: 1783-1786.
 
4.
Jaffe ES. The 2008 WHO classification of lymphomas: implications for clinical practice and translational research. Hematology Am Soc Hematol Educ Program 2009: 523-531.
 
5.
Jaffe ES, Barr PM, Smith SM. Understanding the New WHO Classification of Lymphoid Malignancies: Why It’s Important and How It Will Affect Practice. Am Soc Clin Oncol Educ Book 2017; 37: 535-546.
 
6.
Vázquez-Reyes A, Bobadilla-Morales L, Barba-Barba C, et al. Aneuploidy identification in pre-B acute lymphoblastic leukemia patients at diagnosis by Multiplex Ligation-dependent Probe Amplification (MLPA). Leuk Res 2017; 59: 117-123.
 
7.
Szczepański T, Harrison CJ, van Dongen JJ. Genetic aberrations in paediatric acute leukaemias and implications for management of patients. Lancet Oncol 2010; 11: 880-889.
 
8.
Wang XM. Advances and issues in flow cytometric detection of immunophenotypic changes and genomic rearrangements in acute pediatric leukemia. Transl Pediatr 2014; 3: 149-155.
 
9.
Ritterbach J, Hiddemann W, Beck JD, et al. Detection of hyperdiploid karyotypes (> 50 chromosomes) in childhood acute lymphoblastic leukemia (ALL) using fluorescence in situ hybridization (FISH). Leukemia 1998; 12: 427-433.
 
10.
Pérez-Vera P, Frías S, Carnevale A, et al. A strategy to detect chromosomal abnormalities in children with acute lymphoblastic leukemia. J Pediatr Hematol Oncol 2004; 26: 294-300.
 
11.
Abad M, Ciudad J, Rincon MR, et al. DNA aneuploidy by flow cytometry is an independent prognostic factor in gastric cancer. Anal Cell Pathol 1998; 16: 223-231.
 
12.
Pinto AE, Pereira T, Silva GL, André S. Prognostic relevance of DNA flow cytometry in breast cancer revisited: The 25-year experience of the Portuguese Institute of Oncology of Lisbon. Oncol Lett 2017; 13: 2027-2033.
 
13.
Kumar BK, Bhatia P, Trehan A, et al. DNA Ploidy and S-phase Fraction Analysis in Paediatric B-cell Acute Lymphoblastic Leukemia Cases: a Tertiary Care Centre Experience. Asian Pac J Cancer Prev 2015; 16: 7917-7922.
 
14.
Rachieru-Sourisseau P, Baranger L, Dastugue N, et al. DNA Index in childhood acute lymphoblastic leukaemia: a karyotypic method to validate the flow cytometric measurement. Int J Lab Hematol 2010; 32: 288-298.
 
15.
Forestier E, Holmgren G, Roos G. Flow cytometric DNA index and karyotype in childhood lymphoblastic leukemia. Anal Cell Pathol 1998; 17: 145-156.
 
16.
Kenney B, Zieske A, Rinder H, Smith B. DNA ploidy analysis as an adjunct for the detection of relapse in B-lineage acute lymphoblastic leukemia. Leuk Lymphoma 2008; 49: 42-48.
 
17.
Harrison C. New genetics and diagnosis of childhood B-cell precursor acute lymphoblastic leukemia. Pediatr Rep 2011; 3 (Suppl 2): e4.
 
18.
Pieters R, Schrappe M, De Lorenzo P, et al. A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial. Lancet 2007; 370: 240-250.
 
19.
Nachman JB, Heerema NA, Sather H, et al. Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia. Blood 2007; 110: 1112-1115.
 
20.
Raimondi SC. Cytogenetics in acute leukemias. In: Childhood Leukemias, Pui CH (ed.). Cambrige University Press, New York 2006: 238-265.
 
21.
Pui CH, Carroll AJ, Head D, et al. Near-triploid and near-tetraploid acute lymphoblastic leukemia of childhood. Blood 1990; 76: 590-596.
 
22.
Paulsson K, Forestier E, Lilljebjörn H, et al. Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 2010; 107: 21719-21724.
 
23.
Paulsson K, Johansson B. High hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer 2009; 48: 637-660.
 
24.
Zaliova M, Hovorkova L, Vaskova M, et al. Slower early response to treatment and distinct expression profile of childhood high hyperdiploid acute lymphoblastic leukaemia with DNA index < 1.16. Genes Chromosomes Cancer 2016; 55: 727-737.
 
25.
Moorman AV, Richards SM, Martineau M, et al. Outcome heterogeneity in childhood high-hyperdiploid acute lymphoblastic leukemia. Blood 2003; 102: 2756-2762.
 
26.
Sutcliffe MJ, Shuster JJ, Sather HN, et al. High concordance from independent studies by the Children’s Cancer Group (CCG) and Pediatric Oncology Group (POG) associating favorable prognosis with combined trisomies 4, 10, and 17 in children with NCI Standard- Risk B-precursor Acute Lymphoblastic Leukemia: a Children’s Oncology Group (COG) initiative. Leukemia 2005; 19: 734-740.
 
27.
Woodward EL, Olsson ML, Johansson B, Paulsson K. Allelic variants of PRDM9 associated with high hyperdiploid childhood acute lymphoblastic leukaemia. Br J Haematol 2014; 166: 947-949.
 
28.
Lustosa de Sousa DW, de Almeida Ferreira FV, Cavalcante Félix FH, de Oliveira Lopes MV. Acute lymphoblastic leukemia in children and adolescents: prognostic factors and analysis of survival. Rev Bras Hematol Hemoter 2015; 37: 223-229.
 
29.
Raimondi SC, Roberson PK, Pui CH, et al. Hyperdiploid (47-50) acute lymphoblastic leukemia in children. Blood 1992; 79: 3245-3252.
 
30.
Hrusák O, Porwit-MacDonald A. Antigen expression patterns reflecting genotype of acute leukemias. Leukemia 2002; 16: 1233- 1258.
 
31.
Djokic M, Björklund E, Blennow E, et al. Overexpression of CD123 correlates with the hyperdiploid genotype in acute lymphoblastic leukemia. Haematologica 2009; 94: 1016-1019.
 
32.
Muñoz L, Nomdedéu JF, López O, et al. Interleukin-3 receptor alpha chain (CD123) is widely expressed in hematologic malignancies. Haematologica 2001; 86: 1261-1269.
 
33.
Harrison CJ, Moorman AV, Broadfield ZJ, et al. Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia. Br J Haematol 2004; 125: 552-559.
 
34.
Safavi S, Olsson L, Biloglav A, et al. Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia. Oncotarget 2015; 6: 42793-42802.
 
35.
Raimondi SC, Zhou Y, Mathew S, et al. Reassessment of the prognostic significance of hypodiploidy in pediatric patients with acute lymphoblastic leukemia. Cancer 2003; 98: 2715-2722.
 
36.
Heerema NA, Nachman JB, Sather HN, et al. Hypodiploidy with less than 45 chromosomes confers adverse risk in childhood acute lymphoblastic leukemia: a report from the children’s cancer group. Blood 1999; 94: 4036-4045.
 
37.
Holmfeldt L, Wei L, Diaz-Flores E, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 2013; 45: 242-252.
 
38.
Safavi S, Paulsson K. Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis. Blood 2017; 129: 420-423.
 
39.
Gibbons B, MacCallum P, Watts E, et al. Near haploid acute lymphoblastic leukemia: seven new cases and a review of the literature. Leukemia 1991; 5: 738-743.
 
40.
Chessels JM, Swansbury GJ, Reeves B, et al. Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia. Br J Haematol 1997; 99: 93-100.
 
41.
Park J, Kim M, Lee HK, et al. Chromosome abnormalities in T-cell acute lymphoblastic leukemia in Korea. Int J Hematol 2014; 99: 279-287.
 
42.
Garcia DR, Bhatt S, Manvelyan M, et al. An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype. Mol Cytogenet 2011; 4: 20.
 
43.
Lemez P, Attarbaschi A, Béné MC, et al. Childhood near-tetraploid acute lymphoblastic leukemia: an EGIL study on 36 cases. Eur J Haematol 2010; 85: 300-308.
 
44.
Lazarevic V, Rosso A, Juliusson G, et al. Prognostic significance of high hyperdiploid and triploid/tetraploid adult acute myeloid leukemia. Am J Hematol 2015; 90: 800-805.
 
45.
Sandahl JD, Kjeldsen E, Abrahamsson J, et al. Ploidy and clinical characteristics of childhood acute myeloid leukemia: A NOPHO- AML study. Genes Chromosomes Cancer 2014; 53: 667-675.
 
46.
Creutzig U, Reinhardt D, Diekamp S, et al. AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced dose intensity. Leukemia 2005; 19: 1355-1360.
 
47.
Huang L, Wang SA, DiNardo C, et al. Tetraploidy/near-tetraploidy acute myeloid leukemia. Leuk Res 2017; 53: 20-27.
 
48.
Hasle H, Alonzo TA, Auvrignon A, et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood 2007; 109: 4641-4647.
 
49.
Vidriales MB, Orfao A, López-Berges MC, et al. DNA aneuploidy in acute myeloblastic leukemia is associated with a high expression of lymphoid markers. Cytometry 1995; 22: 22-25.
 
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