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Updated: Aug 20, 2025

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
A Retrospective Cytogenetic Abnormality in Pediatric Acute Lymphoblastic Leukemia: Report of 11 Years
Kazem Ghaffari1, Athena Kouhfar2, Ali Ghasemi3
1Department of Basic and Laboratory Sciences, Khomein University of Medical Sciences, Khomein, Iran.
Insights
Chromosomal abnormalities in pediatric acute lymphoid leukemia (ALL) significantly impact survival. Hypodiploidy and t(9;22) were linked to poorer outcomes in this study of childhood leukemia.
Area of Science:
- Pediatric Hematology
- Oncology
- Cytogenetics
Background:
- Acute lymphoid leukemia (ALL) is the most common childhood malignancy, representing 70-80% of leukemia cases in children.
- ALL is most frequently diagnosed in 4-year-old children.
- Understanding chromosomal abnormalities is crucial for prognosis in pediatric ALL.
Purpose of the Study:
- To determine the frequency of chromosomal abnormalities in pediatric ALL.
- To evaluate the impact of these abnormalities on patient survival outcomes.
Main Methods:
- An 11-year retrospective study (2010-2020) of 99 pediatric ALL patients.
- Data collected included clinical and diagnostic findings from medical records.
- Cytogenetic analysis was performed on all patients.
Main Results:
- Cytogenetic abnormalities were identified in 99 pediatric ALL patients.
- The 5-year overall survival rate (OSR) and event-free survival (EFS) were 48% and 43%, respectively.
- Hypodiploidy and t(9;22) were significantly associated with increased mortality and reduced EFS.
Conclusions:
- Cytogenetic findings are critical for assessing survival in pediatric ALL.
- Specific abnormalities like hypodiploidy and t(9;22) negatively affect prognosis.
- Identifying these abnormalities aids in predicting patient outcomes and guiding treatment.
Background:
Acute lymphoid leukemia (ALL) is the largest subset of hematologic malignancies, accounting for approximately 70%-80% of childhood leukemia, and is most common at age 4 years. The aim of this study was to define the frequency of chromosomal abnormalities in pediatric ALL.
Materials And Methods:
In this 11-year retrospective study, we investigated 99 patients which referred to our department due to ALL from 2010 to 2020. The age group of the patients ranged from 6 months to 14 years with a mean of 6.71 ± 4.09 years. Clinical and diagnostic findings were extracted from patients' medical records.
Results:
We showed cytogenetic abnormalities of 99 pediatric ALL patients, including 78 pre-B-ALL, 9 common B-ALL, and 12 T-ALL cases. The 5-year overall survival rate (OSR) and event-free survival (EFS) of all cytogenetic abnormalities (n = 99) were 48% and 43%, respectively. There was a significant relationship between the two cytogenetic abnormalities, hypodiploidy and t(9;22), with death (P < 0.05). On comparing the subjects with normal cytogenetics to the other cytogenetic abnormalities, EFS was significantly low for hypodiploidy (P = 0.0163, hazard ratio = 0.5308) and t(9;22) (P = 0.0131, hazard ratio = 0.4908), while other cytogenetic abnormalities did not have a statistically significant difference in EFS.
Conclusions:
Our results emphasized the importance of the cytogenetic findings in evaluating the survival outcomes, which allows identifying a variety of OSR and EFS, because some of the cytogenetic abnormalities may interfere with the death and prognosis.
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