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Updated: Feb 11, 2026

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
An unusual presentation of large B-cell lymphoma with interferon regulatory factor 4 gene rearrangement
Anuj Verma1, Sridhar Epari1, Sumeet Gujral1
1Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India.
Insights
Interferon regulatory factor 4 (IRF4) gene rearrangements define a specific subtype of pediatric diffuse large B-cell lymphoma (DLBCL). This report details an unusual case presenting in the inguinal region, highlighting key pathological findings.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- A distinct subtype of diffuse large B-cell lymphoma (DLBCL) is characterized by rearrangements of the interferon regulatory factor 4 (IRF4) gene.
- This subtype typically presents in pediatric patients, often with tonsillar involvement, low-stage disease, and a favorable response to chemotherapy.
Abstract:
Rearrangements involving interferon regulatory factor 4 (IRF4) gene has been recently described in a subtype of diffuse large B-cell lymphoma (DLBCL). They occur in a typical clinical setting of a pediatric age group, predominantly with tonsillar mass, usually as a low-stage disease and with good response to chemotherapy. Histomorphologically, they show nodular/follicular architecture with diffuse strong immunopositivity for multiple myeloma oncogene 1. Here, the authors describe one such unusual case of large B-cell lymphoma with IRF4 gene rearrangement in a young child with the unusual location of inguinal region and detailed pathological (histological, immunohistochemical, and molecular) findings.
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