• Fatima Meraj Hematology Department , The Indus Hospital & Health Network, Karachi
  • Saba Jamal Clinical Laboratories , The Indus Hospital & Health Network, Karachi
  • Omer Javed The Indus Hospital & Health Network, Karachi
  • Sidra Maqsood The Indus Hospital & Health Network, Karachi
  • Neelum Mansoor Paediatric Hematology Oncology Department, The Indus Hospital, Karachi
  • Naeem Jabbar Pediatric Oncology Department, The Indus Hospital & Health Network, Karachi



Acute Lymphoblastic leukemia, Acute Myeloid leukemia, Cytogenetics, Childhood Leukemia, Flourescence In Situ, Translocations


Background: Cytogenetics is evolving and different molecular mechanisms we know now have proved to be of diagnostic and prognostic significance in both acute lymphoid (ALL) and myeloid leukaemia (AML). This study aims to find out and compare the occurrence of different cytogenetics in paediatric acute leukaemia. Methods: This is a cross-sectional study of diagnosed B-ALL and AML patients presenting at The Indus Hospital. We studied FISH and karyotype in B-ALL and FISH in AML patients. FISH analysis shows a total of 69 (12.8%) of B ALL patients had cytogenetic abnormalities. BCR-ABL1 was positive in 5.1%, ETV6/RUNX1T1 in 8.6% and KMT2A in 2.3% individuals. Karyotype reveals hyper diploidy in 24.3%, Monosomy in 1.94%, and t (1:19) and t (17:19) were observed in 5.8 % and 0.24% cases respectively. FISH analysis in AML cases reveal positivity of t (8:21) in 26.4%, INV (16) in 6.1% while PML-RARA t(15:17) was done on morphological suspicion in 17 cases; all of which showed positivity; making 7.9% of the total AMLs. The study demonstrated a wide spectrum of heterogeneity in paediatric acute leukaemia. Conclusion: Hyperdiploidy was the most common cytogenetic abnormality. We report a lower incidence of t (12:21), compared to the world. We showed a higher prevalence of RUNX1/RUNX1T1 in young children. The prevalence of core binding factor AML was 32.5%.  


Amare PK, Jain H, Kabre S, Deshpande Y, Pawar P, Banavali S, et al. Cytogenetic profile in 7209 Indian patients with de novo acute leukaemia: a single centre study from India. J Cancer Ther 2016;7(7):530–44.

Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukaemia. N Engl J Med 2004;350:1535–48.

Fadoo Z, Nisar I, Yousuf F, Lakhani LS, Ashraf S, Imam U, et al. Clinical features and induction outcome of childhood acute lymphoblastic leukaemia in a lower/middle income population: A multi‐institutional report from Pakistan. Pediatr Blood Cancer 2015;62(10):1700–8.

Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW. WHO classification of tumours of haematopoietic and lymphoid tissues. Swerdlow SH, editor. Lyon: International agency for research on cancer; 2008.

Siddaiahgari S, Awaghad M, Latha M. Clinical, immunophenotype and cytogenetic profile of acute lymphoblastic leukaemia in children at tertiary health care centre in India. Muller J Med Sci Res 2015;6:112–8.

Sazawal S, Bhatia K, Gutierrez M, Saxena R, Arya L, Bhargava M. Paucity of TEL‐AML 1 translocation, by multiplex RT‐PCR, in B‐lineage acute lymphoblastic leukaemia (ALL) in Indian patients. Am J Hematol 2004;76(1):80–2.

Li X, Li J, Hu Y, Xie W, Du W, Liu W, et al. A comprehensive cytogenetic classification of 1466 Chinese patients with de novo acute lymphoblastic leukaemia. Leuk Res 2012;36(6):720–6.

Shaikh MS, Ali SS, Khurshid M, Fadoo Z. Chromosomal abnormalities in Pakistani children with acute lymphoblastic leukaemia. Asian Pac J Cancer Prev 2014;15(9):3907–9.

Awan T, Iqbal Z, Aleem A, Sabir N, Absar M, Rasool M, et al. Five most common prognostically important fusion oncogenes are detected in the majority of Pakistani paediatric acute lymphoblastic leukaemia patients and are strongly associated with disease biology and treatment outcome. Asian Pac J Cancer Prev 2012;13(11):5469–75.

Iqbal Z, Tanveer A. Incidence of different fusion oncogenes in acute Lymphoblastic Leukaemia (ALL) patients from Pakistan: possible implications in differential diagnosis, prognosis, treatment and management of ALL. Haematologica 2006;91:64.

Siddiqui R, Nancy N, Naing WP, Ali S, Dar L, Khan BK, et al. Distribution of common genetic subgroups in childhood acute lymphoblastic leukaemia in four developing countries. Cancer Genet Cytogenet 2010;200(2):149–53.

Faiz M, Qureshi A, Qazi JI. Molecular characterization of different fusion oncogenes associated with childhood Acute Lymphoblastic leukaemia from Pakistan. Int J Agro Vet Med Sci 2011;5(5):497–507.

Amjad A, Wali RM, Anjum S, Mansoor R. A Single Institution's Experience with Cytogenetic and MRD Outcomes in Paediatric Acute Lymphoblastic Leukaemia. J Coll Physicians Surg Pak 2019;29(6):549–52.

Nizzamani GS, Nizamani ZA, Fahim A, Ujjan IU. Acute lymphoblastic leukaemia; chromosomal abnormalities in childhood reporting at a tertiary care hospital of Sindh. Prof Med J 2016;23(3):12–316.

Alkhayat N, Elborai Y, Al Sharif O, Al Shahrani M, Alsuhaibani O, Awad M, et al. Cytogenetic Profile and FLT3 Gene Mutations of Childhood Acute Lymphoblastic Leukaemia. Clin Med Insights Oncol 2017;11:1179554917721710.

Alrajeh AI, Abalkhail H, Khalil SH. Cytogenetics and molecular markers of acute myeloid leukaemia from a tertiary care center in Saudi Arabia. J Appl Hematol 2017;8(2):68.

Safaei A, Shahryari J, Farzaneh MR, Tabibi N, Hosseini M. Cytogenetic findings of patients with acute lymphoblastic leukaemia in Fars Province. Iran J Med Sci 2013;38(4):301–7.

Cheng Y, Wang Y, Wang H, Chen Z, Lou J, Xu H, et al. Cytogenetic profile of de novo acute myeloid leukaemia: a study based on 1432 patients in a single institution of China. Leukaemia 2009;23(10):1801–6.

So CC, Wan TS, Chow JL, Hui KC, Choi WW, Lam CC, et al. A single-center cytogenetic study of 629 Chinese patients with de novo acute myeloid leukaemia—evidence of major ethnic differences and a high prevalence of acute promyelocytic leukaemia in Chinese patients. Cancer Genet 2011;204(8):430–8.

Wakui M, Kuriyama K, Miyazaki Y, Hata T, Taniwaki M, Ohtake S, et al. Diagnosis of acute myeloid leukaemia according to the WHO classification in the Japan Adult Leukaemia Study Group AML-97 protocol. Int J Hematol 2008;87(2):144–51.

Horibe K, Tsukimoto I, Ohno R. Clinicopathologic characteristics of leukaemia in Japanese children and young adults. Leukaemia 2001;15(8):1256–61.

Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, et al. Refinement of cytogenetic classification in acute myeloid leukaemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010;116(3):354–65.

Creutzig U, van den Heuvel-Eibrink MM, Gibson B, Dworzak MN, Adachi S, de Bont E, et al. Diagnosis and management of acute myeloid leukaemia in children and adolescents: recommendations from an international expert panel. Blood 2012;120(16):3187–3205.

Harrison CJ, Hills RK, Moorman AV, Grimwade DJ, Hann I, Webb DK, et al. Cytogenetics of childhood acute myeloid leukaemia: United Kingdom Medical Research Council Treatment trials AML 10 and 12. J Clin Oncol 2010;28(16):2674–81.

Mrózek K, Harper DP, Aplan PD. Cytogenetics and molecular genetics of acute lymphoblastic leukaemia. Hematol Oncol Clin North Am. 2009 Oct;23(5):991-1010.

Pui C, Chessells J, Camitta B, Baruchel A, Biondi A, Boyett JM, et al. Clinical heterogeneity in childhood acute lymphoblastic leukaemia with 11q23 rearrangements. Leukaemia 2003;17(4):700–6.

Creutzig U, Ritter J, Riehm H, Langermann HJ, Henze G, Kabisch H, et al. Improved treatment results in childhood acute myelogenous leukaemia: a report of the German cooperative study AML-BFM-78. Blood 1985;65(2):298–304.

Pession A, Rondelli R, Basso G, Rizzari C, Testi AM, Fagioli F, et al. Treatment and long-term results in children with acute myeloid leukaemia treated according to the AIEOP AML protocols. Leukaemia 2005;19(12):2043–53.

Gibson B, Wheatley K, Hann I, Stevens RF, Webb D, Hills RK, et al. Treatment strategy and long-term results in paediatric patients treated in consecutive UK AML trials. Leukaemia 2005;19(12):2130–8.

Additional Files