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T-cell Lymphoblastic Lymphoma in a Patient With Chromosome 8q21.11 Microdeletion
James Yip1, Karen S Thompson1,2
1Department of Pathology, John A. Burns School of Medicine, University of Hawai'i.
Journal of Pediatric Hematology/Oncology
|September 6, 2021
Summary
Chromosome 8q21.11 deletion syndrome, a rare genetic disorder, can be complicated by T-cell lymphoblastic lymphoma. This case highlights a microdeletion associated with lymphoma, identifying potential contributing genes.
Area of Science:
- Genetics
- Oncology
- Developmental Biology
Background:
- Chromosome 8q21.11 deletion syndrome is a rare genetic disorder.
- It is characterized by facial dysmorphic features, Peters anomaly, and intellectual disability.
Observation:
- A 2-year-old female presented with chromosome 8q21.11-q21.2 microdeletion.
- The patient developed T-cell lymphoblastic lymphoma.
Findings:
- Whole genome SNP microarray identified an interstitial deletion of 8q21.11-q21.2, encompassing 16 genes.
- Autopsy revealed T-cell lymphoblastic lymphoma as an anterior mediastinal mass.
- Potential oncogenic genes (PKIA, IL7, TPD52, PAG1, FABP5) within the deletion were identified.
Implications:
- This case expands the understanding of chromosome 8q21.11 deletion syndrome.
- It suggests a potential link between this microdeletion and lymphomagenesis.
- Further research into the identified genes may reveal therapeutic targets for related cancers.
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