# Chromosomal Variations and Clinical Features of Acute Lymphoblastic Leukemia in the North Indian Population: A Cross-Sectional Study

## TL;DR

This study examines chromosomal variations and clinical features of ALL in North India, highlighting male predominance and genetic heterogeneity.

## Contribution

The study provides insights into the genetic and clinical profile of ALL in the North Indian population.

## Key findings

- Male patients were more prevalent in the ALL cohort.
- Chromosomal abnormalities like 46, XX, t(9;22) were commonly observed.
- Hematological parameters varied significantly in patients aged 30-50 years.

## Abstract

Background: The key prognostic markers in acute lymphoblastic leukemia (ALL) include age, leukocyte count upon diagnosis, immunophenotype, and chromosomal abnormalities. Furthermore, there was a correlation between cytogenetic anomalies and specific immunologic phenotypes of ALL, which in turn had varied outcomes. The objective of this study was to examine the occurrence of cytogenetic abnormalities in individuals diagnosed with acute lymphoblastic leukemia.

Methods: The study employed a cross-sectional design to investigate genetic evaluation and clinical features in 147 ALL patients between March 2021 and August 2022. Demographic data (like age and sex), clinical manifestations, and hematological parameters were collected. Cytogenetic analysis (G-banding) was performed to identify chromosomal abnormalities. The mean±SD and analysis of variance (ANOVA) were used to assess associations and differences among variables using SPSS Version 24 (IBM Corp., Armonk, NY, USA).

Results: The study shows male n=85 and female n=62 in ALL patients, with prevalent clinical manifestations: fever n=100 (68.03%), pallor n=123 (83.67%), and lymphadenopathy n=65 (44.22%). The hematological parameters like hemoglobin (Hb) (6.14±2.5 g/dl), total leukocyte count (TLC) (1.7±1.05 cell/mm3), and platelet count (1.2±0.11 lac/mm3) show a significant variation (P<0.05) in patients aged 30-50 years. In addition, chromosomal abnormalities, particularly 46, XX, t(9;22), were prevalent, emphasizing the genetic heterogeneity of ALL.

Conclusion: The study shows a male predominance with ALL, prevalent clinical manifestations, and significant hematological parameter variations in the 30-50 age group. Chromosomal abnormalities, notably 46, XX, t(9;22), underscore the genetic complexity of the disease, which necessitates tailored therapeutic interventions informed by genetic profiles.