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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
Published on: December 28, 2015
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Early Bronchus-Associated Lymphoid Tissue Lymphoma Diagnosed with Immunoglobulin Heavy Chain Molecular Testing
Pen Li1, Lawrence Cheung2, Brian Chiu3
1Department of Medicine, University of Alberta, Edmonton, AB, Canada T6G 2G3.
Canadian Respiratory Journal
|July 23, 2016
Summary
Bronchus-associated lymphoid tissue (BALT) lymphoma, a rare lung cancer, can be challenging to diagnose. Immunoglobulin heavy chain testing aided in identifying early-stage BALT lymphoma in a patient with autoimmune conditions.
Area of Science:
- Pulmonology
- Oncology
- Immunology
Background:
- Extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT) lymphoma can manifest in the lung as bronchus-associated lymphoid tissue (BALT) lymphoma.
- This low-grade B-cell lymphoma often presents subtly, posing diagnostic challenges.
Observation:
- A patient with Sjögren's syndrome and rheumatoid arthritis presented with dyspnea and imaging findings suggestive of lymphoid interstitial pneumonia (LIP).
- Standard histological and immunohistochemical analyses did not yield definitive lymphoma diagnosis.
Findings:
- Immunoglobulin heavy chain (IgH) polymerase chain reaction (PCR) testing revealed B-cell monoclonality.
- This molecular finding was crucial for diagnosing an early-stage BALT lymphoma, despite inconclusive initial pathology.
Implications:
- Highlights the utility of IgH PCR in diagnosing challenging cases of BALT lymphoma.
- Suggests considering molecular testing in patients with autoimmune conditions and suspected lymphoid lung lesions.
- Emphasizes the importance of a multidisciplinary approach in diagnosing rare B-cell lymphomas.
