Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma

• DOI: 10.1186/s12967-024-05921-1
• Publication Date: 2024-12-04T07:53:51Z
• Authors: Yi Que; Xiuxia Lu; Suying Lu; Feifei Sun; Jia Zhu; Yu Zhang; Juan Wang; Junting Huang; Wei Liu; Fenghua Wang; Liping Li; Li Zhang; Min Gao; Zijun Zhen; Yizhuo Zhang
• Keywords: Immune checkpoint; Tumor-infiltrating lymphocytes

Pediatric lymphoepithelioma-like carcinoma (pLELC) is a rare neoplasm with unclear prognosis, genome, and tumor microenvironment. Our study aims to elucidate its genomic clinical characteristics. Forty-one pLELC patients were enrolled at Sun Yat-sen University Cancer Center from 2012 2023. Kaplan–Meier analysis was utilized estimate progression-free survival (PFS) overall (OS). Baseline plasma protein levels 16 9 health controls analyzed using Olink proteomic platform whole exon sequence (WES) performed on 11 samples 10 pediatric patients. Immunohistochemistry (IHC) for PD-L1was performed, the infiltration of CD4+ or CD8+ T cells evaluated. Patients receiving anti PD-1 in combination chemotherapy had 1-year PFS 100%, while 2-year 72.92% (95%CI: 46.80‒100%). The OS 87.5% 67.34–100%). Significant upregulation immune checkpoint molecules detected including LAG-3, PD-L1, galectin-9 LELC group by (P < 0.05). mutational landscape presented more genes mutated pathways associated immune, DNA repair, cell cycle NOTCH. Pathway profiles indicated repair pathway SWI/SNF complex potential drug targets All evaluated exhibited positive PD-L1 expression CD4+/CD8+ infiltration. findings indicate promising response rate antibody treatment LELC, providing theoretical basis targeting pathways. These outcomes suggest that trials involving inhibitors are warranted LELC.