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<p>Over the past few decades, molecular features have become crucial in diagnosing and classifying large B-cell lymphomas (LBCLs), but overlapping features pose diagnostic challenges. We reported a 24-year-old male patient with B-cell lymphoma presenting concurrent <i>IRF4</i> rearrangement and 11q aberrations, highlighting diagnostic challenges in molecular-era lymphoma classification. Histopathology showed diffuse lymphoid cell infiltration with a starry-sky pattern, resembling Burkitt lymphoma or high-grade B-cell lymphoma (HGBL). Immunophenotyping revealed CD20+ , CD10+ , BCL6+ , IRF4+ , and high Ki67 (&gt; 90%), raising suspicion of HGBL with 11q aberration (HGBL-11q) or LBCL with <i>IRF4</i> rearrangement (LBCL-<i>IRF4</i>-R). FISH confirmed <i>IRF4</i> translocation, 11q23 gain, and 11q24 deletion, while <i>MYC</i>/<i>BCL2</i>/<i>BCL6</i> rearrangements were absent. Next-generation sequencing (NGS) showed mutations in <i>IRF4, PBRM1</i>, and NF-κB/PI3K-AKT pathways—characteristic of LBCL-<i>IRF4</i>-R—with no high-frequency mutated genes in HGBL-11q (e.g., <i>SMARCA4</i>, <i>PDE10A</i>, <i>GNA13, DDX3X</i>). Moreover, the case presents multiple <i>IRF4</i> mutations in line with previous observations on LBCL-<i>IRF4</i>-R. The patient achieved complete remission with R-CHOP therapy, aligning with LBCL-<i>IRF4</i>-R’s favorable prognosis. This case underscores the need for integrated morphology, immunophenotyping, and NGS to resolve complex diagnostic challenges. It presents a key diagnostic pitfall where secondary 11q aberrations in LBCL-<i>IRF4</i>-R can mimic HGBL-11q, revealing limitations of current genetic algorithms and advocating for expanded molecular diagnostic criteria.</p>

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A rare case of large B-cell lymphoma with IRF4 rearrangement and concomitant 11q aberrations: a diagnostic pitfall in the molecular era

  • 期刊论文

  • 发表日期：

    2025年11月29日

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  • Yin-Zhuan Liu,
  • Zi-Hang Chen,
  • Ying-Ying Zhang,
  • Yuan Tang,
  • Sha Zhao

摘要

Over the past few decades, molecular features have become crucial in diagnosing and classifying large B-cell lymphomas (LBCLs), but overlapping features pose diagnostic challenges. We reported a 24-year-old male patient with B-cell lymphoma presenting concurrent IRF4 rearrangement and 11q aberrations, highlighting diagnostic challenges in molecular-era lymphoma classification. Histopathology showed diffuse lymphoid cell infiltration with a starry-sky pattern, resembling Burkitt lymphoma or high-grade B-cell lymphoma (HGBL). Immunophenotyping revealed CD20+ , CD10+ , BCL6+ , IRF4+ , and high Ki67 (> 90%), raising suspicion of HGBL with 11q aberration (HGBL-11q) or LBCL with IRF4 rearrangement (LBCL-IRF4-R). FISH confirmed IRF4 translocation, 11q23 gain, and 11q24 deletion, while MYC/BCL2/BCL6 rearrangements were absent. Next-generation sequencing (NGS) showed mutations in IRF4, PBRM1, and NF-κB/PI3K-AKT pathways—characteristic of LBCL-IRF4-R—with no high-frequency mutated genes in HGBL-11q (e.g., SMARCA4, PDE10A, GNA13, DDX3X). Moreover, the case presents multiple IRF4 mutations in line with previous observations on LBCL-IRF4-R. The patient achieved complete remission with R-CHOP therapy, aligning with LBCL-IRF4-R’s favorable prognosis. This case underscores the need for integrated morphology, immunophenotyping, and NGS to resolve complex diagnostic challenges. It presents a key diagnostic pitfall where secondary 11q aberrations in LBCL-IRF4-R can mimic HGBL-11q, revealing limitations of current genetic algorithms and advocating for expanded molecular diagnostic criteria.