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Copy Number Variations in Wilms Tumor: A Pilot Study From India
Emine A Rahiman1, Minu Singh1, Prateek Bhatia1
1Pediatric Hematology-Oncology Unit, Department of Pediatrics.
Journal of Pediatric Hematology/Oncology
|December 19, 2019
Summary
Copy number variations like 1q gain and MYCN gain are common in Wilms tumor. Their presence did not differ between survivors and relapsed cases in Indian children, suggesting a unique molecular profile.
Area of Science:
- Pediatric Oncology
- Cancer Genomics
- Molecular Pathology
Background:
- Copy number variations (CNVs) are increasingly recognized for their prognostic significance in Wilms tumor.
- Identifying CNVs can guide personalized therapeutic strategies for improved patient outcomes.
Purpose of the Study:
- To investigate the role of copy number variations in Wilms tumor.
- To compare the frequency of specific CNVs between Wilms tumor survivors and patients experiencing relapse.
Main Methods:
- A retrospective, nested case-control pilot study was conducted.
- DNA from formalin-fixed paraffin-embedded nephrectomy specimens of Wilms tumor patients (relapse and survivors) was analyzed using multiplex ligand probe amplification.
- Copy number variations including 1q gain, 16q loss, and MYCN gain were assessed.
Main Results:
- Copy number variations were detected in 97.8% of specimens.
- 1q gain (69%) and MYCN gain (92.9%) were frequently observed.
- The occurrence of 1q gain, 16q loss, and MYCN gain did not significantly differ between the survivor and relapse groups.
Conclusions:
- The study identified 1q gain, MYCN gain, and 16p loss in Wilms tumor specimens.
- A high frequency of 1q gain and MYCN gain, with no difference in distribution between survivors and relapsed cases, suggests a distinct molecular profile in Indian children with Wilms tumor.
