Department of Immunotechnology, Lund University, Lund, Sweden.
Division of Oncology and Pathology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Leuk Lymphoma. 2021 Nov;62(11):2637-2647. doi: 10.1080/10428194.2021.1933480. Epub 2021 Jun 3.
Mantle cell lymphoma (MCL) is an aggressive B-cell neoplasm that follows a heterogeneous clinical course. Recurrent mutations have been described, but their applicability in the clinical setting is currently limited. The main reasons are challenges in the sequencing of DNA retrieved from formalin-fixed tissue commonly used for tissue collection in clinical biobanks. In this study, we sequenced 77 samples from a population-based MCL cohort to investigate the utility of targeted sequencing in guiding personalized treatment approaches. Tumors were genetically variable, and a similar genetic landscape as previous studies using non-formalin fixed samples was identified, with recurrent mutations including and . Novel alterations that can be considered actionable and/or indicative of treatment response were also identified. Our approach shows the potential benefits of using target sequencing of formalin fixed samples to facilitate treatment selection and individualized clinical decisions in MCL.
套细胞淋巴瘤（MCL）是一种侵袭性 B 细胞肿瘤，具有异质性的临床病程。已经描述了复发性突变，但它们在临床环境中的适用性目前受到限制。主要原因是从临床上常用的福尔马林固定组织中提取的 DNA 测序存在挑战。在这项研究中，我们对来自基于人群的 MCL 队列的 77 个样本进行了测序，以研究靶向测序在指导个性化治疗方法中的应用。肿瘤具有遗传变异性，并且与以前使用非福尔马林固定样本的研究中确定的遗传景观相似，复发性突变包括 和 。还鉴定了可被认为具有可操作性和/或提示治疗反应的新改变。我们的方法表明，使用福尔马林固定样本的靶向测序来促进 MCL 中的治疗选择和个体化临床决策具有潜在的益处。
