Cytogenetic and molecular aberrations in childhood B lineage acute lymphoblastic leukaemia


  • Senthilprabhu R. Department of Pediatric Haematology, Institute of Child Health, Madras Medical College, Chennai, Tamil Nadu, India
  • Aruna R. Department of Pediatric Haematology, Institute of Child Health, Madras Medical College, Chennai, Tamil Nadu, India
  • Ravichandran C. Department of Pediatric Haematology, Institute of Child Health, Madras Medical College, Chennai, Tamil Nadu, India



Fluorescence in situ hybridization, Leukaemia, Translocation


Background: Acute Lymphoblastic Leukemia (ALL) is a common hematological malignancy in children and is characterized by genetic changes such as mutations and chromosomal translocations. These cytogenetic and molecular abnormalities have got diagnostic and prognostic significance. Identification of these abnormalities helps in risk categorization and appropriate therapy. Aim of the study was to assess the cytogenetic/molecular abnormalities associated with B Lineage ALL in children.

Methods: It was a hospital based retrospective observational study of 79 children diagnosed with B Lineage ALL by Bone marrow aspirate morphology and flow cytometry.  Bone marrow samples or Peripheral blood were sent for cytogenetic/molecular analysis by Fluorescent in situ Hybridization technique. Descriptive data analysis was done using SPSS software.

Results: Out of 199 cases 163(82%) were B Lineage ALL. 79(48%) undergone molecular analysis. Out of 79 cases of B lineage ALL, Translocation t(9;22) BCR-ABL1  was positive in 2(2.5%) cases , Translocation t(12;21) TEL/AML1  was positive 9(11%) cases and MLL (KMT2A) Gene Rearrangements was seen in 6(7.6%) children. Out of 79 cases of B lineage ALL, 6(7.6%) were Infantile ALL (Males 1(17%); Females 5(83%)).  4(67%) cases were positive for MLL (KMT2A) Gene Rearrangement, all of them were female children. Over all 17(22%) cases (Males 4(24%); Females 13(76%)) were positive for molecular abnormalities.

Conclusions: Many children with ALL have got Cytogenetic and Molecular abnormalities. The highest percentage of cytogenetic and molecular genetic abnormalities was related to t(12;21)TEL/AML1 in B Lineage ALL children, if present confer favourable prognosis. MLL (KMT2A) Gene Rearrangement was the common molecular abnormality in Infantile B ALL, presence of it leads to high risk categorization and confer poor prognosis. The evaluation of cytogenetic and molecular genetic abnormalities in children is essential in estimating the prognosis in B Lineage ALL children, which will be a great contribution to offer appropriate therapeutic approaches.

Author Biography

Senthilprabhu R., Department of Pediatric Haematology, Institute of Child Health, Madras Medical College, Chennai, Tamil Nadu, India




Horowitz NA, Akasha D, Rowe JM. Advances in the genetics of acute lymphoblastic leukemia in adults and the potential clinical implications. Expert rev Hematol. 2018 Oct 3;11(10):781-91.

Whitlock JA. Down syndrome and acute lymphoblastic leukaemia. Bri J Haematol. 2006 Dec;135(5):595-602.

Hasle H. Pattern of malignant disorders in individuals with Down's syndrome. Lancet Oncol. 2001 Jul 1;2(7):429-36.

Mi JQ, Wang X, Yao Y, Lu HJ, Jiang XX, Zhou JF, et al. Newly diagnosed acute lymphoblastic leukemia in China (II): prognosis related to genetic abnormalities in a series of 1091 cases. Leukemia. 2012 Jul;26(7):1507.

Vijayanarasimha D, Madhumathi DS, Kumari P, Naik J, Appaji L, Lakshmidevi V. The pheno-genotypic characteristics of infantile acute leukemia in a regional cancer center from South India. J Appl Hematol. 2017 Apr 1;8(2):61.

Yiallouros DB, Henze G. Akute lymphoblastische Leukämie (ALL). Therapie. 2006;52006.

Guo Y, Shan Q, Gong Y, Lin J, Yang X, Zhou R. Oridonin in combination with imatinib exerts synergetic anti-leukemia effect in Ph+ acute lymphoblastic leukemia cells in vitro by inhibiting activation of LYN/mTOR signaling pathway. Cancer Biol Thera. 2012 Nov 16;13(13):1244-54.

Jones LK, Saha V. Philadelphia positive acute lymphoblastic leukaemia of childhood. Br J Haematol 2005;130:489-500.

Schotte D, De Menezes RX, Akbari Moqadam F, Khankahdani LM, Lange-Turenhout E, Chen C, et al. MicroRNA characterize genetic diversity and drug resistance in pediatric acute lymphoblastic leukemia. Haematologica. 2011;96:703-11.

Forestier E, Johansson B, Borgström G, Kerndrup G, Johannsson J, Heim S, NOPHO Leukemia Cytogenetic Study Group. Cytogenetic findings in a population‐based series of 787 childhood acute lymphoblastic leukemias from the Nordic countries. Eur J Haematol. 2000 Mar;64(3):194-200.

Chopra A, Soni S, Verma D, Kumar D, Dwivedi R, Vishwanathan A, et al. Prevalence of common fusion transcripts in acute lymphoblastic leukemia: A report of 304 cases. Asia‐Pacific J Clin Oncol. 2015 Dec;11(4):293-8.

Alqasi A, Tavakolifar Y, Rezaeeyan H, Saki N, Bagherpour S, Nasab MA, Cytogenetic and molecular assessment of childhood acute lymphoblastic leukemia patients from 2014 to 2017 in Ahvaz. Cli Cancer Invest J. 2019;8(1):28-32.

Andreasson P, Höglund M, Békássy AN, Garwicz S, Heldrup J, Mitelman F, et al. Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias. Eur J Haematol. 2000 Jul;65(1):40-51.

De Braekeleer E, Basinko A, Douet-Guilbert N, Morel F, Le Bris MJ, Berthou C, et al. Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008. Cancer Gene Cyto. 2010 Jul 1;200(1):8-15.

Chebihi ZT, Belkhayat A, Chadli E, Hilal L, Skhoun H, Hessissen L, et al. Cytogenetic profile of Moroccan pediatric acute lymphoblastic leukemia: Analysis of 155 cases with a review of the literature. Clin Lymphoma Myeloma Leuk 2018;18:e241-8.

Paulsson K, Johansson B. High hyperdiploid childhood acute lymphoblastic leukemia. Genes, Chromo Cancer. 2009 Aug;48(8):637-60.






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