Role of Ikaros Zinc Finger Protein 1 (IKZF1) Gene Deletion in Patients with Acute   Lymphoblastic Leukemia

Nimra Anwar; Saleem Ahmed Khan; Fahim Akhtar; Nighat Shahbaz; Zaineb Akram; Tariq Azam Khattak; Tariq Ghafoor; Qammar un Nisa

doi:10.51253/pafmj.v76iSUPPL-9.12899

Authors

Nimra Anwar Department of Haematology, Army Medical College, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Saleem Ahmed Khan Department of Haematology, Army Medical College, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Fahim Akhtar Department of Haematology, Army Medical College, Rawalpindi/National University of Medical Sciences (NUMS) Pakistan
Nighat Shahbaz Armed Force Bone Marrow Transplant Centre, Rawalpindi /National Institute of Blood and Marrow Transplant/National University of Medical Sciences (NUMS) Pakistan
Zaineb Akram Armed Force Bone Marrow Transplant Centre, Rawalpindi /National Institute of Blood and Marrow Transplant/National University of Medical Sciences (NUMS) Pakistan
Tariq Azam Khattak Armed Force Bone Marrow Transplant Centre, Rawalpindi /National Institute of Blood and Marrow Transplant/National University of Medical Sciences (NUMS) Pakistan
Tariq Ghafoor Armed Force Bone Marrow Transplant Centre, Rawalpindi /National Institute of Blood and Marrow Transplant/National University of Medical Sciences (NUMS) Pakistan
Qammar un Nisa Armed Force Bone Marrow Transplant Centre, Rawalpindi /National Institute of Blood and Marrow Transplant/National University of Medical Sciences (NUMS) Pakistan

DOI:

https://doi.org/10.51253/pafmj.v76iSUPPL-9.12899

Keywords:

Acute Lymphoblastic Leukemia, IKZF1 Protein, Gene Deletion, Prognosis, Polymerase Chain Reaction

Abstract

Objective: To determine the frequency of Ikaros zinc finger protein 1 (IKZF1) gene deletions in patients with acute lymphoblastic leukemia (ALL), and to assess their association with early hematological remission following induction therapy.

Study Design: Cross-sectional study.

Place and Duration of Study: Armed Forces Bone Marrow Transplant Centre (AFBMTC) and Department of Haematology, Army Medical College Rawalpindi, Pakistan, from Dec 2019 to Dec 2020.

Methodology: Bone marrow and peripheral blood samples from 44 newly diagnosed ALL patients were analyzed for IKZF1 deletions (exons Δ2–7, Δ2–8, Δ4–7, Δ4–8) using allele-specific PCR followed by Sanger sequencing. Day-29 hematological remission was assessed morphologically and correlated with IKZF1 status. Statistical analysis was performed using Chi-square and Mann Whitney U tests, with a p-value <0.05 being considered significant.

Results: IKZF1 deletions were detected in 8(18.2%) patients, predominantly among the B-cell subtype (18.4%). Deletion variants included Δ2–7 (11.1%), Δ2–8 (22.2%), Δ4–7 (38.9%), and Δ4–8 (27.8%). Day-29 remission was achieved in 87.5% of IKZF1-deleted and 94.4% of wild-type patients (p=0.46). The mean day-1 blast count was significantly lower in the deleted group (p=0.042).

Conclusion: IKZF1 deletions were present in nearly one-fifth of patients with ALL, with Δ4–7 being the most frequent variant. Although not significantly associated with early remission, their identification provides insight into the molecular profile of Pakistani ALL patients.

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