将MYD88 L265P突变检测和克隆性判定应用于脑脊液细胞和细胞自由DNA检测，可以提高原发性中枢神经系统淋巴瘤的诊断准确性。
Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell-free DNA improves diagnosis of primary CNS lymphoma.
发表日期：2023 Mar 20
作者：
Clotilde Bravetti, Michaël Degaud, Marine Armand, Elise Sourdeau, Karima Mokhtari, Karim Maloum, Jennifer Osman, Patricia Verrier, Caroline Houillier, Damien Roos-Weil, Carole Soussain, Sylvain Choquet, Khe Hoang-Xuan, Magali Le Garff-Tavernier, Jérôme Alexandre Denis, Frédéric Davi
来源：
BRITISH JOURNAL OF HAEMATOLOGY
摘要：
原句：Diagnosis of primary central nervous system lymphoma (PCNSL) is challenging, and although brain biopsy remains the gold standard, cerebrospinal fluid (CSF) constitutes a less invasive source of lymphomatous biomarkers. In a retrospective cohort 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, flow cytometry, interleukin (IL)-10 and IL-6 quantification.
PCNSL的诊断具有挑战性，尽管脑活检仍然是黄金标准，但脑脊液（CSF）构成了一个较少侵袭性的淋巴瘤生物标志物来源。在一项回顾性队列研究中，我们评估了54例PCNSL患者在诊断或复发时所进行的免疫球蛋白重链（IGH）基因克隆性和MYD88 L265P检测对于细胞沉淀和上清液中的影响，并与细胞学、流式细胞术、白细胞介素（IL）-10和IL-6定量进行比较。克隆性评估包括一种新的检测部分IGH-DJ重排的方法。在细胞沉淀和上清液细胞外（cf）DNA中，检测到27例（50％）克隆性IGH重排和/或MYD88 L265P突变。结合对两个区间的分析，36（66％）个病例中至少有一个可检测的分子标记，其中有9例（16％）只存在于cfDNA中。虽然细胞学和流式细胞术仅在7例（13.0％）和9例（17.3％）的病例中呈阳性，但高IL-10水平在36例（66.7％）病例中观察到。总体而言，将分子和细胞因子结果考虑在内，46/54（85％）个病例在CSF中至少有一个可检测的淋巴瘤生物标志物。这些结果表明，在细胞沉淀和上清液CSF分数上评估的这些生物标志物组合显着改善了PCNSL的生物诊断。© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.
Diagnosis of primary central nervous system lymphoma (PCNSL) is challenging, and although brain biopsy remains the gold standard, cerebrospinal fluid (CSF) constitutes a less invasive source of lymphomatous biomarkers. In a retrospective cohort 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, flow cytometry, interleukin (IL)-10 and IL-6 quantification. Clonality assessment included a new assay to detect partial IGH-DJ rearrangements. Clonal IGH rearrangements and/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 cfDNA for 9 (16%) of them. While cytology and flow 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.© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.