FL的发病机制主要基于对FL高级/全身期（sFL）数据的分析，只有少量局部FL（lFL）的队列研究迄今为止已经得到深入研究。我们通过147例lFL和122例sFL的全面分析，包括染色体内拷贝数变异（SCNA）和全外显子测序（WES），对其进行了编码。潜在靶标的基因和蛋白质表达进行分析。总体而言，SCNA和突变谱中，不论是lFL还是sFL，以及BCL2易位阳性（BCL2 +）和阴性（BCL2-）FL都显示出了重叠的特征。然而，lFL和sFL之间在SCNA频率上存在显著差异，例如，在18q增益中（lFL为14％，sFL为36％; p = 0.0003）。虽然在lFL中较少见，但18q21的增益与较差的无进展生存期（PFS）相关。lFL和sFL的突变谱包括典型的基因损伤。然而，与lFL相比，sFL中ARID1A的突变检测率显著增加（29％与6％，p = 0.0001）。 在BCL2 + FL中，KMT2D，BCL2，ABL2，IGLL5和ARID1A的突变较多，而在BCL2- FL中，则更常见STAT6的突变。尽管lFL和sFL的谱显示了重叠的特征，分子谱分析揭示了新的见解，并确定18q21增益作为lFL的预后标记。© 2023.该作者。

Knowledge on the pathogenesis of FL is mainly based on data derived from advanced/systemic stages of FL (sFL) and only small cohorts of localized FL (lFL) have been characterized intensively so far. Comprehensive analysis with profiling of somatic copy number alterations (SCNA) and whole exome sequencing (WES) was performed in 147 lFL and 122 sFL. Putative targets were analyzed for gene and protein expression. Overall, lFL and sFL, as well as BCL2 translocation-positive (BCL2+) and -negative (BCL2-) FL showed overlapping features in SCNA and mutational profiles. Significant differences between lFL and sFL, however, were detected for SCNA frequencies, e.g., in 18q-gains (14% lFL vs. 36% sFL; p = 0.0003). Although rare in lFL, gains in 18q21 were associated with inferior progression-free survival (PFS). The mutational landscape of lFL and sFL included typical genetic lesions. However, ARID1A mutations were significantly more often detected in sFL (29%) compared to lFL (6%, p = 0.0001). In BCL2 + FL mutations in KMT2D, BCL2, ABL2, IGLL5 and ARID1A were enriched, while STAT6 mutations more frequently occurred in BCL2- FL. Although the landscape of lFL and sFL showed overlapping features, molecular profiling revealed novel insights and identified gains in 18q21 as prognostic marker in lFL.© 2023. The Author(s).