Sp17 | an Integrated Diagnostic Approach Combining Bone Marrow Biopsy and Flow Cytometry in Four Challenging Cases of Small B-cell Lymphoma With Leukemic Presentation
Year: 2025
Type: article
Abstract: Classification of small B-cell lymphomas with leukemic presentation can be challenging in the absence of nodal involvement. We highlight the value of an integrated diagnostic approach, combining bone marrow (BM) histopathology and flow cytometry (FC), in four cases with atypical immunophenotypic features. Complete BM and FC findings are summarized in Table 1. Case 1. A 68-year-old male with peripheral absolute lymphocytosis and splenomegaly. FC identified a CD200-, CD5+, CD23-, ROR1+ B-cell population, suggestive of mantle cell lymphoma (MCL). BM biopsy revealed a cyclin D-negative B cell infiltration with an interstitial and intra-sinusoidal pattern. FISH analysis did not detect CCND1 rearrangements. These findings supported a final diagnosis of splenic marginal zone lymphoma (SMZL). Case 2. A 68-year-old male with peripheral lymphocytosis and splenomegaly showed a CD200+, CD5+, CD23- medium-sized B-cell population with prolymphocytic-like features on FC, initially suggesting atypical chronic lymphocytic leukemia (CLL). BM biopsy revealed a CD5+, CD23-, cyclin D1+ B-cell infiltration with nodular and diffuse patterns, consistent with leukemic non-nodal mantle cell lymphoma (nnMCL). Additionally, multifocal aggregates of mast cells were observed, leading to a concurrent diagnosis of systemic mastocytosis. Case 3. A 58-year-old male with significant lymphocytosis and marked splenomegaly. FC identified a CD5-, ROR1-, CD200- B-cell population, partially CD23+. BM histology revealed a predominantly intra-sinusoidal pattern of B-cell infiltration, focally positive for Cyclin D1. A month later, a peri-renal lymph node was removed during surgery for an oncocytoma of the right kidney. Histological analysis revealed a CD5-, CD23+, Cyclin D1+, SOX11+ B-cell population, confirming a final diagnosis of mantle cell lymphoma (MCL). Case 4. An 83-year-old male with a history of post-traumatic splenectomy and CLL-like monoclonal B-cell lymphocytosis (MBL) presented with persistent lymphocytosis. FC showed medium/large-sized B-cells ROR1+, partially CD5/CD23+, and rare CD200+ elements. BM biopsy demonstrated a predominant cyclin D1-positive MCL infiltration with a nodular pattern, along with a minor population consistent with CLL. Conclusion. Collectively, our cases underscore the complexity of CLL, MCL, and SMZL differential diagnosis, especially in cases with unusual phenotypes, highlighting the critical role of an integrated diagnostic strategy.
Authors: F. Adotti, B. Mandelli, F. Arienzo, M.G. Pignataro, S. Trasarti, L. Bizzoni, M.S. De Propris, C. Giordano
Institutions: Sapienza University of Rome, Policlinico Umberto I
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7093122855
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