Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma.

in Expert review of molecular diagnostics by Šúri Alexandra, Mociková Heidi

TLDR

  • This review examines traditional and emerging methods for cerebrospinal fluid analysis in diagnosing central nervous system involvement in diffuse large B-cell lymphoma, highlighting the limitations of conventional approaches and the potential of novel molecular techniques.

Abstract

Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is a rare but serious condition requiring accurate diagnostics. Cerebrospinal fluid (CSF) analysis plays a crucial role, particularly in cases where biopsy is not feasible, and imaging is inconclusive. This review examines both traditional and emerging methods for CSF analysis in diagnosing CNS involvement in DLBCL. Conventional approaches such as cytomorphology, flow cytometry, and biochemical markers have limitations, particularly in low-cellularity samples. Novel molecular techniques, including circulating tumor DNA (ctDNA) analysis and microRNAs (miRNAs), are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up. The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed. The literature search methodology involved reviewing relevant studies and clinical data. Advancements in CSF biomarker analysis are improving the diagnosis of CNS lymphoma, aiding early detection and personalized treatment approaches. However, further research and broader clinical validation are necessary for their routine implementation.

Overview

  • The study reviews traditional and emerging methods for cerebrospinal fluid (CSF) analysis in diagnosing central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL).
  • Conventional approaches such as cytomorphology, flow cytometry, and biochemical markers have limitations in low-cellularity samples.
  • Novel molecular techniques, including circulating tumor DNA (ctDNA) analysis and microRNAs (miRNAs), are gaining prominence for their ability to detect gene mutations at diagnosis and monitor minimal residual disease during follow-up.

Comparative Analysis & Findings

  • The study highlights the limitations of conventional approaches, particularly in low-cellularity samples, and the need for novel molecular techniques.
  • The sensitivity and specificity of genetic mutations, particularly MYD88 L265P, in combination with interleukin-10 (IL-10) levels, are discussed.
  • Advancements in CSF biomarker analysis are improving the diagnosis of CNS lymphoma, aiding early detection and personalized treatment approaches.

Implications and Future Directions

  • Further research and broader clinical validation are necessary for the routine implementation of novel molecular techniques.
  • The study suggests that advancements in CSF biomarker analysis will improve the diagnosis of CNS lymphoma and aid early detection and personalized treatment approaches.
  • The study highlights the need for continued research in this field to improve diagnostic accuracy and patient outcomes.
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