PDF(Pubmed)
Abstract：
BACKGROUND: Assessment of bone marrow involvement (BMI) in non-Hodgkin lymphoma (NHL) is crucial for determining patient prognosis and treatment strategy. We assessed the prognostic value of next-generation sequencing (NGS)-based immunoglobulin (Ig) gene clonality analysis as an ancillary test for BMI evaluation in NHL.
METHODS: A retrospective cohort of 124 patients newly diagnosed with B-cell NHL between 2019 and 2022 was included. NGS-based Ig clonality analysis was conducted using LymphoTrak IGH FR1 Assay and IGK Assay (Invivoscribe Technologies, San Diego, CA, USA) on BM aspirate samples, and the results were compared with those of histopathological BMI (hBMI).
RESULTS: Among the 124 patients, hBMI was detected in 16.9% (n = 21). The overall agreement of BMI between Ig clonality analyses and histopathological analysis for IGH, IGK, and either IGH or IGK was 86.3%, 92.7%, and 90.3%. The highest positive percent agreement was observed with clonal rearrangements of either IGH or IGK gene (90.5%), while the highest negative percent agreement was observed with clonal rearrangement of IGK gene (96.1%). For the prediction of hBMI, positive prediction value ranged between 59.1% and 80.0% and the negative prediction value ranged between 91.3% and 97.9%.
CONCLUSIONS: NGS-based clonality analysis is an analytic platform with a substantial overall agreement with histopathological analysis. Assessment of both IGH and IGK genes for the clonal rearrangement analysis could be considered for the optimal diagnostic performance of BMI detection in B-cell NHL.
METHODS: A retrospective cohort of 124 patients newly diagnosed with B-cell NHL between 2019 and 2022 was included. NGS-based Ig clonality analysis was conducted using LymphoTrak IGH FR1 Assay and IGK Assay (Invivoscribe Technologies, San Diego, CA, USA) on BM aspirate samples, and the results were compared with those of histopathological BMI (hBMI).
RESULTS: Among the 124 patients, hBMI was detected in 16.9% (n = 21). The overall agreement of BMI between Ig clonality analyses and histopathological analysis for IGH, IGK, and either IGH or IGK was 86.3%, 92.7%, and 90.3%. The highest positive percent agreement was observed with clonal rearrangements of either IGH or IGK gene (90.5%), while the highest negative percent agreement was observed with clonal rearrangement of IGK gene (96.1%). For the prediction of hBMI, positive prediction value ranged between 59.1% and 80.0% and the negative prediction value ranged between 91.3% and 97.9%.
CONCLUSIONS: NGS-based clonality analysis is an analytic platform with a substantial overall agreement with histopathological analysis. Assessment of both IGH and IGK genes for the clonal rearrangement analysis could be considered for the optimal diagnostic performance of BMI detection in B-cell NHL.
摘要：
背景：评估非霍奇金淋巴瘤（NHL）的骨髓受累（BMI）对于确定患者的预后和治疗策略至关重要。我们评估了基于下一代测序（NGS）的免疫球蛋白（Ig）基因克隆性分析作为NHLBMI评估的辅助测试的预后价值。
方法：纳入了2019年至2022年间新诊断为B细胞NHL的124例患者的回顾性队列。基于NGS的Ig克隆性分析使用LymphoTrakIGHFR1测定和IGK测定(InvivoscribeTechnologies,圣地亚哥,CA,美国)在BM抽吸样品上，并将结果与组织病理学BMI（hBMI）进行比较。
结果：在124例患者中，hBMI为16.9%(n=21)。IGH的Ig克隆性分析和组织病理学分析之间的BMI总体一致性，IGK,IGH或IGK为86.3%，92.7%,90.3%。与IGH或IGK基因的克隆重排观察到最高的阳性百分比一致性(90.5%),而与IGK基因克隆重排的阴性百分比一致性最高(96.1%)。对于hBMI的预测，阳性预测值在59.1%~80.0%之间,阴性预测值在91.3%~97.9%之间。
结论：基于NGS的克隆性分析是一个分析平台，与组织病理学分析具有实质性的总体一致性。对于B细胞NHL中BMI检测的最佳诊断性能，可以考虑对IGH和IGK基因进行克隆重排分析的评估。
方法：纳入了2019年至2022年间新诊断为B细胞NHL的124例患者的回顾性队列。基于NGS的Ig克隆性分析使用LymphoTrakIGHFR1测定和IGK测定(InvivoscribeTechnologies,圣地亚哥,CA,美国)在BM抽吸样品上，并将结果与组织病理学BMI（hBMI）进行比较。
结果：在124例患者中，hBMI为16.9%(n=21)。IGH的Ig克隆性分析和组织病理学分析之间的BMI总体一致性，IGK,IGH或IGK为86.3%，92.7%,90.3%。与IGH或IGK基因的克隆重排观察到最高的阳性百分比一致性(90.5%),而与IGK基因克隆重排的阴性百分比一致性最高(96.1%)。对于hBMI的预测，阳性预测值在59.1%~80.0%之间,阴性预测值在91.3%~97.9%之间。
结论：基于NGS的克隆性分析是一个分析平台，与组织病理学分析具有实质性的总体一致性。对于B细胞NHL中BMI检测的最佳诊断性能，可以考虑对IGH和IGK基因进行克隆重排分析的评估。
