Early diagnosis is crucial for the successful treatment of primary CNS lymphoma (PCNSL), a rapidly progressing tumour. Suspicion raised on brain MRI must be confirmed by a histopathological diagnosis of a tumour specimen collected by stereotactic biopsy. In rare cases, cerebrospinal fluid (CSF) or vitreous humour might aid in providing a cytological diagnosis. Several disease-related, patient-related, and treatment-related factors affect the timing and accuracy of diagnosis and patient outcome. Some molecules detected in CSF, aqueous and vitreous humour, and peripheral blood were proposed as diagnostic biomarkers for PCNSL; however, detection methods for most of these molecules are not yet standardised, have a long turnaround time, are expensive, and have little reproducibility among labs. By contrast, the somatic hotspot mutation, revealed by PCR-based assay, is currently and reliably used during the diagnosis of some lymphomas, and IL-10, measured by enzyme-linked immunosorbent assay, is routinely used to diagnose and monitor different common metabolic and immunological diseases. Several independent studies have shown that and IL-10 can be easily assessed in peripheral blood, plasma, aqueous and vitreous humour, and CSF of patients with PCNSL with substantial sensitivity and specificity, especially when evaluated in combination. In this Viewpoint, evidence supporting the routine use of and IL-10 in diagnosing PCNSL is considered, and some examples of the frequent difficulties found in the diagnosis of PCNSL are provided, highlighting the role and indications of these two biomarkers to improve the timely recognition of this aggressive tumour.

中文翻译：

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2024 年使用 MYD88Leu265Pro 和 IL-10 对原发性 CNS 淋巴瘤进行分子诊断


原发性中枢神经系统淋巴瘤（PCNSL）是一种快速进展的肿瘤，早期诊断对于成功治疗至关重要。脑部 MRI 提出的怀疑必须通过立体定向活检收集的肿瘤标本的组织病理学诊断来证实。在极少数情况下，脑脊液 (CSF) 或玻璃体液可能有助于提供细胞学诊断。一些疾病相关、患者相关和治疗相关的因素会影响诊断的时机和准确性以及患者的治疗结果。在脑脊液、房水和玻璃体液以及外周血中检测到的一些分子被提议作为 PCNSL 的诊断生物标志物；然而，大多数这些分子的检测方法尚未标准化，周转时间长，价格昂贵，并且实验室之间的可重复性很低。相比之下，基于 PCR 的检测揭示的体细胞热点突变目前在某些淋巴瘤的诊断中得到可靠使用，而通过酶联免疫吸附检测检测的 IL-10 通常用于诊断和监测不同的常见代谢病。和免疫性疾病。几项独立研究表明，IL-10 可以很容易地在 PCNSL 患者的外周血、血浆、房水和玻璃体液以及脑脊液中进行评估，具有很高的敏感性和特异性，特别是在联合评估时。在本观点中，考虑了支持常规使用IL-10和IL-10诊断PCNSL的证据，并提供了一些在PCNSL诊断中经常发现的困难的例子，强调了这两种生物标志物的作用和适应症，以提高及时识别这种侵袭性肿瘤。