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Background <p>Follicular lymphoma (FL) is a common type of non-Hodgkin lymphoma typically characterized by a nodular growth pattern and the t(14;18) translocation. A rare variant, FL with a predominantly diffuse growth pattern (dFL), lacks this translocation, demonstrates diffuse architecture, and is frequently associated with deletion of 1p36.</p> Case presentation <p>We report the case of a 43-year-old man who presented with an inguinal mass and was diagnosed with follicular lymphoma showing a predominantly diffuse pattern. Fluorescence in situ hybridization (FISH) analysis was negative for both BCL2 rearrangement and TNFRSF14 (1p36) deletion. Chromosomal microarray (CMA) and next-generation sequencing (NGS) were subsequently performed for further molecular characterization.</p> Results <p>CMA revealed copy-neutral loss of heterozygosity (cnLOH) at 1p36 and additional abnormalities involving 16p that were not detectable by FISH. NGS identified a TP53 mutation, a finding not previously reported in dFL and typically associated with more aggressive lymphoma behavior. Although dFL is generally considered an indolent and localized disease, the patient developed axillary recurrence within 1 year, requiring radiation therapy. Conclusion:&#xa0;These findings underscore the importance of comprehensive molecular testing, such as NGS and CMA, to refine prognostic assessment and guide personalized treatment strategies for this rare lymphoma variant.</p>

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A rare diffuse follicular lymphoma with TP53 mutation and copy-neutral loss of heterozygosity at 1p36: insights into diagnosis, disease progression, and literature review

  • 期刊论文

  • 发表日期：

    2026年3月3日

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  • Mitra Abdolahi,
  • Phassawan Rungsiprakarn,
  • Ahmed Lazim,
  • Pei Jianming,
  • Nicholas Mackrides,
  • Reza Nejati

摘要

Background

Follicular lymphoma (FL) is a common type of non-Hodgkin lymphoma typically characterized by a nodular growth pattern and the t(14;18) translocation. A rare variant, FL with a predominantly diffuse growth pattern (dFL), lacks this translocation, demonstrates diffuse architecture, and is frequently associated with deletion of 1p36.

Case presentation

We report the case of a 43-year-old man who presented with an inguinal mass and was diagnosed with follicular lymphoma showing a predominantly diffuse pattern. Fluorescence in situ hybridization (FISH) analysis was negative for both BCL2 rearrangement and TNFRSF14 (1p36) deletion. Chromosomal microarray (CMA) and next-generation sequencing (NGS) were subsequently performed for further molecular characterization.

Results

CMA revealed copy-neutral loss of heterozygosity (cnLOH) at 1p36 and additional abnormalities involving 16p that were not detectable by FISH. NGS identified a TP53 mutation, a finding not previously reported in dFL and typically associated with more aggressive lymphoma behavior. Although dFL is generally considered an indolent and localized disease, the patient developed axillary recurrence within 1 year, requiring radiation therapy. Conclusion: These findings underscore the importance of comprehensive molecular testing, such as NGS and CMA, to refine prognostic assessment and guide personalized treatment strategies for this rare lymphoma variant.