# Spectrum of Cytogenetic Abnormalities in Adolescent and Young Adult Patients of B-Cell Acute Lymphoblastic Leukemia in a Tertiary Care Hospital in Pakistan

## TL;DR

This study identifies common cytogenetic abnormalities in young adult B-cell ALL patients in Pakistan, highlighting the importance of genetic testing for better treatment planning.

## Contribution

The study provides a detailed analysis of cytogenetic abnormalities in adolescent and young adult B-ALL patients in Pakistan, comparing them to other regions.

## Key findings

- 54% of B-ALL patients showed cytogenetic abnormalities.
- The most common abnormality was t(9;22), found in 13.4% of patients.

## Abstract

Introduction: Acute lymphocytic leukemia (ALL) is a malignancy of infiltration of B or T precursor lymphoid cells, i.e., lymphoblasts, in bone marrow and other lymphoid organs. Detection of various cytogenetic abnormalities in ALL patients is important for the purpose of prognosis and targeted treatment. The aim of this study is to identify the type and frequency of various cytogenetic abnormalities in adolescent and young adult precursor B-cell ALL (B-ALL) patients in Pakistan and compare them with patients of a similar age group in other European and Asian countries.

Methods: A total of 134 B-ALL patients (112 male, 22 female), aged 18-40 years, were included in this cross-sectional retrospective study, with data from December 1, 2014, to March 30, 2020, conducted in the Department of Clinical Hematology and Oncology at Shaukat Khanum Memorial Cancer Hospital & Research Center, Lahore, Pakistan. Bone marrow samples were received in the laboratory’s cytogenetics section of patients diagnosed as B-ALL on flow cytometry for conventional karyotyping. After proper processing of samples with at least 400-bands level resolution, 20 bone marrow cells were counted and analyzed. Scoring and interpretation of cytogenetics was performed using the International System for Human Cytogenomic Nomenclature (ISCN 2020).

Results: Out of 134 B-ALL patients, 72 (54%) showed cytogenetic abnormalities, while 62 (46%) had normal karyotypes. Of all the B-ALL patients, translocation between chromosomes 9 and 22, t(9;22), was the most commonly detected abnormality (i.e., 13.4%).

Conclusion: Cytogenetic analysis is important for risk stratification and targeted therapy in B-ALL, especially in regions with limited access to advanced molecular diagnostics.