Combining <scp><i>MYD88</i> L265P</scp> mutation detection and clonality determination on <scp>CSF</scp> cellular and cell‐free <scp>DNA</scp> improves diagnosis of primary <scp>CNS</scp> lymphoma - Sorbonne Université Access content directly
Journal Articles British Journal of Haematology Year : 2023

Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell‐free DNA improves diagnosis of primary CNS lymphoma

Abstract

Diagnosis of primary central nervous system lymphoma (PCNSL) is challenging, and although brain biopsy remains the gold standard, cerebrospinal f luid (CSF) con-stitutes a less invasive source of lymphomatous biomarkers. In a retrospective co-hort of 54 PCNSL cases tested at diagnosis or relapse, we evaluated the contribution of immunoglobulin heavy chain (IGH) gene clonality and MYD88 L265P detection on both CSF cell pellets and supernatants, in comparison with cytology, f low cy-tometry, interleukin (IL)-10 and IL-6 quantification. Clonality assessment included a new assay to detect partial IGH-DJ rearrangements. Clonal IGH rearrangements a nd/or MYD88 L265P mutation were detected in 27 (50%) cell pellets and 24 (44%) supernatant cell-free (cf) DNA. Combining analyses on both compartments, 36 (66%) cases had at least one detectable molecular marker, present only in cf DNA for 9 (16%) of them. While cytology and f low cytometry were positive in only 7 (13.0%) and 9 (17.3%) cases respectively, high IL-10 levels were observed in 36 (66.7%) cases. Overall, taking into account molecular and cytokine results, 46/54 (85%) cases had at least one lymphomatous biomarker detectable in the CSF. These results show that this combination of biomarkers evaluated on both cell pellet and supernatant CSF fractions improves significantly the biological diagnosis of PCNSL.
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hal-04515614 , version 1 (21-03-2024)

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Attribution - NonCommercial - NoDerivatives

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Clotilde Bravetti, Michaël Degaud, Marine Armand, Elise Sourdeau, Karima Mokhtari, et al.. Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell‐free DNA improves diagnosis of primary CNS lymphoma. British Journal of Haematology, 2023, 201 (6), pp.1088 - 1096. ⟨10.1111/bjh.18758⟩. ⟨hal-04515614⟩
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