Department of Pathology, University Hospitals Cleveland Medical Center/Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Am J Clin Pathol. 2021 Aug 4;156(3):433-444. doi: 10.1093/ajcp/aqaa255.
We investigated the usefulness of a custom-designed 31-gene next-generation sequencing (NGS) panel implemented on a routine basis for the evaluation of low-grade lymphoproliferative disorders (LPDs).
In total, 147 blood, bone marrow, and tissue specimens were sequenced, including 81% B-cell, 15% T-cell, and 3% natural killer (NK)-cell neoplasms.
Of the cases, 92 (63%) of 147 displayed at least one pathogenic variant while 41 (28%) of 147 had two or more. Low mutation rates were noted in monoclonal B-cell lymphocytoses and samples with small T- and NK-cell clones of uncertain significance. Pathogenic molecular variants were described in specific disorders and classified according to their diagnostic, prognostic, and potential therapeutic value. Diagnostically, in addition to confirming the diagnosis of 15 of 15 lymphoplasmacytic lymphomas, 10 of 12 T large granular lymphocytic leukemias, and 2 of 2 hairy cell leukemias (HCLs), the panel helped resolve the diagnosis of 10 (62.5%) of 16 challenging cases lacking a specified diagnosis based on standard morphology, phenotype, and genetic analysis.
Overall, implementation of this targeted lymphoid NGS panel as part of regular hematopathology practice was found to be a beneficial adjunct in the evaluation of low-grade LPDs.
我们研究了一种定制的 31 基因下一代测序（NGS）面板在常规基础上用于评估低级别淋巴增生性疾病（LPD）的有用性。
共对 147 个血液、骨髓和组织标本进行了测序，包括 81%的 B 细胞、15%的 T 细胞和 3%的自然杀伤（NK）细胞肿瘤。
在这些病例中，147 例中有 92 例（63%）至少显示了一种致病性变异，而 147 例中有 41 例（28%）有两种或更多种。在单克隆 B 细胞淋巴细胞增多症和具有小 T 和 NK 细胞克隆的不确定意义的样本中，突变率较低。致病性分子变异在特定疾病中被描述，并根据其诊断、预后和潜在治疗价值进行分类。在诊断方面，除了确认 15 例淋巴浆细胞淋巴瘤、12 例 T 大颗粒淋巴细胞白血病和 2 例毛细胞白血病（HCL）的诊断外，该面板还帮助解决了 16 例具有挑战性的病例的诊断，这些病例缺乏基于标准形态、表型和遗传分析的特定诊断，其中 10 例（62.5%）受益于该面板。
总体而言，作为常规血液病理学实践的一部分，实施这种靶向淋巴 NGS 面板被发现是评估低级别 LPD 的有益辅助手段。
