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Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B‐cell lymphoma of the central nervous system.

Title: Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B‐cell lymphoma of the central nervous system.
Authors: Harlay, Vincent; Gallardo, Catherine; Beaufils, Nathalie; Astier, Alexandre; Testud, Benoit; Amri, Amira; Fritz, Shirley; Abbou, Norman; Robert, Philippe; Garcia, Jeremy; Roll, Patrice; Ouafik, L'houcine; Schenone, Laurence; Petrirena, Gregorio; Bertucci, Alexandre; Bequet, Céline; Chinot, Olivier; Tabouret, Emeline; Nanni, Isabelle; Appay, Romain
Source: British Journal of Haematology; Jul2025, Vol. 207 Issue 1, p289-293, 5p
Subject Terms: Cerebrospinal fluid; Genetic mutation; Polymerase chain reaction; Myeloid differentiation factor 88; Biopsy; Sensitivity & specificity (Statistics); Diagnostic services; Diffuse large B-cell lymphomas
Abstract: The article focuses on the diagnostic utility of detecting the MYD88 p.L265P mutation in cerebrospinal fluid (CSF) for primary central nervous system large B-cell lymphoma (PCNS-LBCL), particularly using digital droplet polymerase chain reaction (ddPCR) compared to Sanger sequencing. PCNS-LBCL is a rare and aggressive form of lymphoma, and the study highlights that ddPCR demonstrates superior sensitivity in detecting the MYD88 mutation in CSF samples, which is crucial when biopsy is not feasible. The study involved 21 patients and found that combining MYD88 mutation analysis with other diagnostic markers, such as cytokine levels and flow cytometry, significantly improves detection rates for this challenging diagnosis. Further research is suggested to validate these findings and enhance clinical practices. [Extracted from the article]
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Database: Complementary Index