Detection of RUNX1-RUNX1T1 Fusion Gene in AML Patients by FISH Technique in Iraq

  • Dahlia N AL-Saidi Department of Laboratory Medical Techniques, AL-Nisour University College, Iraq.
  • Bassam M Hameed Department of Pathology & Forensic Medicine, College of Medicine, Al-Nahrain University, Iraq.
  • Khaleed J Khaleel Department of Medical genetics, Institute Iraqi Center for Cancer and Medical Genetics Research, Mustansirya University, Iraq.
Keywords: Acute Myeloid, Leukaemia, Translocation, FISH, t(8; 21), RUNX1-RUNX1T1

Abstract

Background: AML with t(8;21)(q22;q22.1) is a balanced translocation that results in the fusion of RUNX1 and RUNX1T1. The translocation product is located on derivative chromosome 8. It has characteristic morphologic and immunophenotypic features and is linked with good prognosis. t(8;21)(q22;q22.1) AML is diagnostic of AML regardless of blast count.

Objectives: To detect the RUNX1‐RUNX1T1 fusion gene) in patients with AML by FISH technique and to investigate the relation between this chromosomal abnormality and the immunophenotypic markers CD117, cMPO, CD34, CD13, CD64 and CD33, clinical features and haematological parameters (Hb, WBC, blast percentage and platelets).

Materials ad Methods: Fifty patients with de novo AML were selected sequentially from Baghdad teaching hospital in medical city from June 2020 till April 2021. History was taken and data were collected for each patient using a questionnaire form that included: name, age, sex, symptoms and physical signs. The data of haematological parameters and CD markers expression were collected from the patients’ diagnostic reports.

Results: The RUNX1/RUNX1T1 fusion gene expression was positive in 4 patients representing 8% whereas 46 patients representing 92% of the samples had negative gene expression. Among the 4 positive AML patients for RUNX1/RUNX1T1 fusion gene expression, M2FAB subtype was revealed in all the cases. All the positive cases expressed CD117 and CD34 markers, while it was noted that 3 out of 4 positive cases were having cMPO and CD13 markers and one positive case expressed CD33 and CD64.

Conclusion: It’s shown that RUNX1-RUNX1T1 fusion gene frequency in AML Iraqi patients is similar to international reports.

How to cite this article:
AL-Saidi DN, Hameed BM, Khaleel KJ. Detection of RUNX1-RUNX1T1 Fusion Gene in AML Patients by FISH Technique in Iraq. J Commun Dis. 2021;53(4):54-60.

DOI: https://doi.org/10.24321/0019.5138.202174

References

Al-Harbi K, Aljurf M, Mohty M, Almonhareb F, Ahmed SO. An update on the molecular pathogenesis and potential therapeutic targeting of AML with t(8;21)(q22;q22.1);RUNX1-RUNX1T1.Blood Adv. 2020;4(1):229-38. [PubMed] [Google Scholar]

Kuchenbauer F, Schnittger S, Look T, Gilliland G, Tenen D, Haferlach T, Hiddemann W, Buske C, Schoch C. Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1-ETO. Br J Haematol. 2006;134:616-19. [PubMed] [Google Scholar]

Arber DA, Brunning RD, Le Beau MM, Falini B, Vardiman JW, Porwit A, Thiele J, Foucar K, Dohner H, Bloomfield CD. Acute myeloid leukemia with recurrent genetic abnormalities. In: Jaffe ES, Harris NL, Stein H, Vardiman JW, editors. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France:IARC Press; 2001:81-2.

Steven H. Acute myeloid leukemia. In: Steven H, Harris N, Jaffe E. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. International Agency for Research on Cancer (IARC); 2017. 130 p.

Al-Kzayer LF, Uyen LT, Al-Jadiry MF, Al-Hadad SA, Al-Badri SA, Ghali HH, Ameen NA, Liu T, Matsuda K, Abdulkadhim JM, Al-Shujairi TA, Matti ZI, Hasan JG, Al-Abdullah HM, Al-Ani MH, Saber PA, Khalil HM, Inoshita T, Kamata M, Koike K, Sakashita K. Analysis of class I and II aberrations in Iraqi childhood acute myeloid leukemia using filter paper cards. Ann Hematol. 2014;93(6):949-55. [PubMed] [Google Scholar]

Kassem NM, Medhat N, Kassem HA, El-Desouky MA. Chemotherapeutic resistance in Egyptian acute myeloid leukemia patients. Asian Pac J Cancer Prev. 2019;20(8):2421-7. [PubMed] [Google Scholar]

Klein K, Kaspers G, Harrison CJ, Beverloo HB, Reedijk A, Bongers M, Cloos J, Pession A, Reinhardt D, Zimmerman M, Creutzig U, Dworzak M, Alonzo T, Johnston D, Hirsch B, Zapotocky M, Moerloose BD, Fynn A, Lee V, Taga T, Tawa A, Auvrignon A, Zeller B, Forestier E, Salgado C, Balwierz W, Popa A, Rubnitz J, Raimondi S, Gibson B. Clinical impact of additional cytogenetic aberrations, cKIT and RAS mutations, and treatment elements in pediatric t(8;21)-AML: results from an international retrospective study by the International Berlin-Frankfurt-Münster Study Group. J Clin Oncol. 2015;33(36):4247-58. [PubMed] [Google Scholar]

Nguyen S, Leblanc T, Fenaux P, Witz F, Blaise D, Pigneux A, Thomas X, Rigal-Huguet F, Lioure B, Auvrignon A, Fiere D, Reiffers J, Castaigne S, Leverger G, Harousseau JL, Socie G, Dombret H. A white blood cell index as the main prognostic factor in t(8;21) acute myeloid leukemia (AML): a survey of 161 cases from the French AML Intergroup. Blood. 2002;99(10):3517-23. [PubMed] [Google Scholar]

Gbadamosi B, Ezekwudo D, Bastola S, Jaiyesimi I. Predictive and prognostic markers in adults with acute myeloid leukemia: a single-institution experience. Clin Lymphoma Myeloma Leuk. 2018;18(7):e287-94. [PubMed] [Google Scholar]

Kulsoom B, Shamsi TS, Ahmed N, Hasnain SN. Clinical presentation of acute myeloid leukaemia - a decade-long institutional follow-up. J Pak Med Assoc. 2017;67(12):1837-42. [PubMed] [Google Scholar]

Abd MS, Alwash MM, Ahmed AA. Polymorphism of TET2 gene among Iraqi acute myeloid leukemia. Biochem Cell Arch. 2020;20(2):4571-5. [Google Scholar]

Padilha SL, Souza EJ, Matos MC, Domino NR. Acute myeloid leukemia: survival analysis of patients at a university hospital of Paraná. Rev Bras Hematol Hemoter. 2015;37(1):21-7. [PubMed] [Google Scholar]

Yun JW, Bae YK, Cho SY, Koo H, Kim HJ, Nam DH, Kim SH, Chun S, Joo KM, Park WY. Elucidation of novel therapeutic targets for acute myeloid leukemias with RUNX1-RUNX1T1 fusion. Int J Mol Sci. 2019;20(7):1717. [PubMed] [Google Scholar]

Auewarakul CU, Lauhakirti D, Promsuwicha O, Munkhetvit C. C-kit receptor tyrosine kinase (CD117) expression and its positive predictive value for the diagnosis of Thai adult acute myeloid leukemia. Ann Hematol. 2006;85:108-12. [PubMed] [Google Scholar]

Webber BA, Cushing MM, Li S. Prognostic significance of flow cytometric immunophenotyping in acute myeloid leukemia. Int J Clin Exp Pathol. 2008;1(2):124-33. [PubMed] [Google Scholar]

Published
2021-12-31