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Malignant lymphoma involving a Warthin's tumor: a case with immunophenotypic and gene rearrangement analysis
L J Medeiros1, R Rizzi, P Lardelli
1Laboratory of Pathology, National Cancer Institute, Bethesda, MD.
Insights
This study details a Warthin's tumor complicated by malignant lymphoma. Molecular analysis, including gene rearrangement, confirmed the B-cell origin and a specific translocation, highlighting molecular techniques for diagnosing lymphoma clonality.
Area of Science:
- Oncology
- Pathology
- Molecular Diagnostics
Background:
- Warthin's tumors are benign salivary gland neoplasms.
- Malignant lymphoma involvement within a Warthin's tumor is rare.
- Accurate diagnosis of lymphoma subtype and clonality is crucial for patient management.
Observation:
- A case of Warthin's tumor was found to be infiltrated by malignant lymphoma.
- The lymphoma was morphologically classified as follicular and diffuse, mixed small cleaved and large cell type.
- Immunohistochemical studies showed an abnormal B-lineage immunophenotype, negative for immunoglobulin expression.
Findings:
- Gene rearrangement analysis confirmed clonality by detecting immunoglobulin heavy and kappa light chain gene rearrangements.
- The bcl-2 gene rearrangement and t(14;18) translocation were identified, characteristic of follicular lymphomas.
- T-cell receptor beta chain gene analysis showed a germline configuration, excluding T-cell origin.
Implications:
- Molecular techniques like gene rearrangement analysis are powerful tools for diagnosing lymphoma clonality.
- These methods can demonstrate clonality even when gene expression is absent, complementing immunophenotypic analysis.
- This case underscores the utility of molecular pathology in complex oncological diagnoses.
Abstract:
We describe a Warthin's tumor which was involved by malignant lymphoma. The lymphoma was classified in the Working Formulation as follicular and diffuse, mixed small cleaved and large cell type. Frozen section immunohistochemical studies revealed an abnormal immunophenotype: immunoglobulin-negative and B-lineage. Gene rearrangement analysis confirmed the diagnosis by demonstrating rearrangements of both the immunoglobulin heavy and kappa light chain genes. The bcl-2 gene was also rearranged, consistent with the presence of the t(14;18) (q32;q21) translocation which is typically seen in follicular lymphomas. The T-cell receptor beta chain gene retained the germline configuration. The results in this case highlight an advantage of molecular techniques as compared with immunophenotypic analysis: gene expression is not required to demonstrate clonality.
