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Updated: Jul 8, 2026
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
[Immunophenotyping and gene rearrangement analysis in lymphoid/lymphoproliferative disorders of the lungs]
Camila Cristina Ishikawa1, Alexandre Muxfeldt Ab'Saber, Edwin Roger Parra
1Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Insights
Polymerase chain reaction (PCR) analysis of B and T lymphocyte clonality is crucial for diagnosing pulmonary lymphoproliferative disorders. Detecting gene rearrangement in lymphoid interstitial pneumonia (LIP) cases can change diagnosis to lymphoma, improving patient outcomes.
Area of Science:
- Pulmonary Medicine
- Hematology
- Oncology
Background:
- Pulmonary lymphoproliferative disorders are challenging to diagnose.
- Distinguishing benign lymphoid hyperplasia from malignant lymphoma is critical for patient management.
Purpose of the Study:
- To evaluate the utility of polymerase chain reaction (PCR) for analyzing B and T lymphocyte clonality in pulmonary tissue.
- To assess its role in the routine diagnosis of pulmonary lymphoproliferative disorders.
Main Methods:
- Immunohistochemistry and molecular gene rearrangement analysis were performed.
- Eight cases of lymphoid interstitial pneumonia (LIP) and seven cases of pulmonary lymphoproliferative disorders were assessed.
Main Results:
- Gene rearrangement was detected in 4 of 8 LIP cases, leading to a revised diagnosis of lymphoma.
- Significant association found between CD20/CD68 expression and gene rearrangement.
- Improved survival observed in patients after gene rearrangement detection.
Conclusions:
- Immunophenotyping and PCR are essential for diagnosing pulmonary lymphomas in patients initially presenting with LIP.
- These techniques should be considered 'gold standard' in routine practice for accurate diagnosis and improved patient outcomes.
Objective:
To determine the usefulness, in routine practice, of using polymerase chain reaction to analyze B and T lymphocyte clonality in pulmonary tissue as a tool for the diagnosis of pulmonary lymphoproliferative disorders.
Methods:
Immunohistochemistry and molecular gene rearrangement analysis were performed in order to assess 8 cases of lymphoid interstitial pneumonia (LIP) and 7 cases of pulmonary lymphoproliferative disorders.
Results:
All 8 cases of LIP presented moderate to strong immunostaining for CD3, compared with only 2 cases of lymphoma and 1 case of pseudolymphoma (p = 0.02). Gene rearrangement was detected in 4 of the 8 cases, which changed the diagnosis from LIP to lymphoma, showing the importance of gene rearrangement detection in cases of LIP. In this situation, gene rearrangement using the VH/JH and Vgamma11/Jgamma12 primer pairs was detected in 3 cases and 1 case, respectively, and no gene abnormalities were found using the Dbeta1/Jbeta2 and Vgamma101/Jgamma12 primer pairs in any of the cases. A significant positive association was found between the intensity of CD20 and CD68 expression and gene rearrangement using the VH/JH primer pair. Prior to the gene rearrangement, 4 patients with LIP died quickly, whereas only one patient with LIP died after the gene rearrangement.
Conclusions:
Detection of monoclonal B and T cells by immunophenotyping and polymerase chain reaction had an impact on the diagnosis of pulmonary lymphomas in patients previously diagnosed with LIP. Therefore, immunophenotyping and polymerase chain reaction should be used as 'gold standard' techniques in routine practice.
