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Updated: Aug 8, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[A case of primary pulmonary B cell lymphoma confirmed by gene analysis]
Insights
A lung coin lesion initially suspected as pseudolymphoma was diagnosed as B cell lymphoma. Genetic analysis revealed immunoglobulin gene rearrangement, confirming a neoplastic monoclonal process in this 76-year-old man.
Area of Science:
- Pulmonary Medicine
- Hematology
- Oncology
Background:
- Distinguishing benign lymphoproliferative disorders from malignant lymphomas in the lung can be challenging.
- Early and accurate diagnosis is crucial for appropriate patient management and treatment.
Observation:
- A 76-year-old man presented with a right middle lung coin lesion.
- Initial transbronchial biopsy suggested a lymphoproliferative disorder, leading to a diagnosis of pseudolymphoma after lobectomy.
- Immunoperoxidase studies were inconclusive for a neoplastic monoclonal process.
Findings:
- Genetic analysis of immunoglobulin heavy chain (JH) genes revealed a rearranged band.
- T-cell receptor beta-1 (TCR beta-1) gene rearrangement was absent.
- These genetic findings led to a revised diagnosis of B cell lymphoma, overriding the pseudolymphoma diagnosis.
Implications:
- Genetic analysis, particularly immunoglobulin gene rearrangement, is essential for differentiating B cell lymphoma from pseudolymphoma.
- Accurate molecular diagnostics can refine lung cancer diagnosis and guide therapeutic strategies.
- This case highlights the importance of integrating histopathology with molecular techniques for definitive diagnosis.
Abstract:
A 76-year-old man visited our clinic with chest radiographic evidence of a coin lesion in the right middle lung. Chest CT demonstrated an infiltrative shadow mainly in the S4 segment. Lymphoproliferative disorders were suggested by transbronchial lung biopsy. Middle lobectomy was performed. Pathological study showed massive proliferation of mature lymphocytes. Immunoperoxidase studies could not demonstrate a neoplastic monoclonal process. Pseudolymphoma was diagnosed. High molecular weight DNAs were extracted from frozen specimens. Whether genes of immunoglobulins and T-cell receptors were rearranged was investigated using DNA probes against JH and TCR beta-1 receptor gene. One rearranged band was found in the JH chain. No rearranged band appeared in TCR beta-1 chain. B cell lymphoma was diagnosed instead of pseudolymphoma.
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