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Background <p>Diffuse large B-cell lymphoma (DLBCL) typically presents with lymphadenopathy or extramedullary masses. However, a subset of patients presents with peripheral blood cytopenias, where the diagnosis is primarily established through bone marrow biopsy (BMB). The clinicopathological features and prognosis of this specific presentation remain poorly characterized.</p> Methods <p>We retrospectively analyzed 22 patients with DLBCL who presented with peripheral blood cytopenias and were initially diagnosed by BMB. Comprehensive evaluations included BMB histopathology, immunohistochemistry (IHC), bone marrow smear(BMS), flow cytometry, and chromosome karyotype analysis. Clinical data, treatment response, and survival outcomes were assessed. Kaplan-Meier method was performed to identify prognostic factors associated with overall survival.</p> Results <p>BMB demonstrated a 100% diagnostic yield, revealing varied cellularity and infiltration patterns (diffuse: 45.45%; interstitial: 22.73%; mixed: 22.73%; nodular: 9.09%). IHC confirmed B-cell lineage (CD20+/PAX5+) and classified 68.18% of cases as non-germinal center B-cell (non-GCB) phenotype by Hans classification. Flow cytometry was positive in 54.55% of cases, and chromosomal abnormalities were detected in 54.55%. On PET/CT, diffuse pattern correlated with immunoblastic morphology and severe infiltration, and high SUVmax with immunoblastic morphology (both <i>p</i> &lt; 0.05). Primary marrow DLBCL (45%) had a significantly longer diagnostic interval than secondary involvement (median 10 vs. 6 days, <i>p</i> = 0.002). Kaplan–Meier analysis showed that high infiltration burden, diffuse pattern, higher fibrosis grade, lack of treatment, diffuse PET/CT pattern, and high SUVmax were associated with poorer overall survival (all <i>p</i> &lt; 0.05).</p> Conclusion <p>BMB is of particular value when extramedullary lesions are absent or difficult to biopsy. Notably, primary marrow DLBCL is associated with diagnostic delays, underscoring the need for heightened clinical suspicion and timely intervention to improve outcomes in this aggressive presentation.</p>

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Clinical pathological features and prognosis of diffuse large B-cell lymphoma initially diagnosed by bone marrow biopsy in patients presenting with peripheral blood cytopenia

  • 期刊论文

  • 发表日期：

    2026年8月4日

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  • Xiaoyan Xu,
  • Jianjun Wang,
  • Xuan Wang,
  • Xianwei Xu,
  • Jizhi Zhao,
  • Guo Zhang,
  • Xu Xiaoyan,
  • Huang Jiang,
  • Liu Yang

摘要

Background

Diffuse large B-cell lymphoma (DLBCL) typically presents with lymphadenopathy or extramedullary masses. However, a subset of patients presents with peripheral blood cytopenias, where the diagnosis is primarily established through bone marrow biopsy (BMB). The clinicopathological features and prognosis of this specific presentation remain poorly characterized.

Methods

We retrospectively analyzed 22 patients with DLBCL who presented with peripheral blood cytopenias and were initially diagnosed by BMB. Comprehensive evaluations included BMB histopathology, immunohistochemistry (IHC), bone marrow smear(BMS), flow cytometry, and chromosome karyotype analysis. Clinical data, treatment response, and survival outcomes were assessed. Kaplan-Meier method was performed to identify prognostic factors associated with overall survival.

Results

BMB demonstrated a 100% diagnostic yield, revealing varied cellularity and infiltration patterns (diffuse: 45.45%; interstitial: 22.73%; mixed: 22.73%; nodular: 9.09%). IHC confirmed B-cell lineage (CD20+/PAX5+) and classified 68.18% of cases as non-germinal center B-cell (non-GCB) phenotype by Hans classification. Flow cytometry was positive in 54.55% of cases, and chromosomal abnormalities were detected in 54.55%. On PET/CT, diffuse pattern correlated with immunoblastic morphology and severe infiltration, and high SUVmax with immunoblastic morphology (both p < 0.05). Primary marrow DLBCL (45%) had a significantly longer diagnostic interval than secondary involvement (median 10 vs. 6 days, p = 0.002). Kaplan–Meier analysis showed that high infiltration burden, diffuse pattern, higher fibrosis grade, lack of treatment, diffuse PET/CT pattern, and high SUVmax were associated with poorer overall survival (all p < 0.05).

Conclusion

BMB is of particular value when extramedullary lesions are absent or difficult to biopsy. Notably, primary marrow DLBCL is associated with diagnostic delays, underscoring the need for heightened clinical suspicion and timely intervention to improve outcomes in this aggressive presentation.