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Burkitt Lymphoma With Aberrant Immunophenotype Imposing Diagnostic Challenge
Neelum Mansoor1, Nausheen Yaqoob1, Fatima Meraj1
1Department of Haematology, Indus Hospital, Karachi, Pakistan.
Journal of Ayub Medical College, Abbottabad : JAMC
|January 25, 2022
Summary
Atypical Burkitt lymphoma (BL) can mimic B lymphoblastic lymphoma (B-LL). Definitive diagnosis requires correlating immunophenotype, morphology, and cytogenetics, especially for rare cases.
Area of Science:
- Hematopathology
- Pediatric Oncology
- Immunophenotyping
Background:
- Burkitt lymphoma (BL) typically shows a distinct immunophenotype: positive for pan-B-cell and germinal center markers, negative for immature markers.
- Diagnostic challenges arise when BL deviates from this classic profile, potentially mimicking B lymphoblastic lymphoma (B-LL).
- Accurate differentiation is crucial due to significant differences in treatment protocols.
Observation:
- A pediatric case presented with atypical BL features, lacking L3 morphology.
- Immunohistochemistry revealed aberrant expression of CD34, CD99, and BCL2.
- Initial assessment suggested B-LL due to these atypical findings.
Findings:
- The definitive diagnosis of BL was established through the detection of the characteristic t(8;14) translocation via cytogenetic testing.
- This case underscores that atypical immunophenotypes can obscure a BL diagnosis.
- Correlation of all diagnostic modalities is essential for accurate classification.
Implications:
- Highlights the critical role of cytogenetic analysis in diagnosing challenging lymphoma cases.
- Emphasizes the need for a high index of suspicion for atypical BL presentations.
- Promotes integrated diagnostic approaches combining morphology, immunophenotyping, and molecular genetics.
