多形性横纹肌肉瘤中完全缺失和与复杂的基因组和低免疫浸润有关。

Complete loss of and is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma.

机构信息

Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

Department of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

出版信息

HGG Adv. 2023 Jul 19;4(4):100224. doi: 10.1016/j.xhgg.2023.100224. eCollection 2023 Oct 12.

DOI:10.1016/j.xhgg.2023.100224

PMID:37593416

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10428123/

Abstract

Rhabdomyosarcoma accounts for roughly 1% of adult sarcomas, with pleomorphic rhabdomyosarcoma (PRMS) as the most common subtype. Survival outcomes remain poor for patients with PRMS, and little is known about the molecular drivers of this disease. To better characterize PRMS, we performed a broad array of genomic and immunostaining analyses on 25 patient samples. In terms of gene expression and methylation, PRMS clustered more closely with other complex karyotype sarcomas than with pediatric alveolar and embryonal rhabdomyosarcoma. Immune infiltrate levels in PRMS were among the highest observed in multiple sarcoma types and contrasted with low levels in other rhabdomyosarcoma subtypes. Lower immune infiltrate was associated with complete loss of both and . This comprehensive characterization of the genetic, epigenetic, and immune landscape of PRMS provides a roadmap for improved prognostications and therapeutic exploration.

摘要

横纹肌肉瘤约占成人肉瘤的 1%，其中多形性横纹肌肉瘤（PRMS）是最常见的亚型。PRMS 患者的生存结果仍然较差，对于这种疾病的分子驱动因素知之甚少。为了更好地描述 PRMS，我们对 25 个患者样本进行了广泛的基因组和免疫染色分析。就基因表达和甲基化而言，PRMS 与其他复杂核型肉瘤的聚类更为密切，而与儿科肺泡和胚胎性横纹肌肉瘤的聚类则不密切。PRMS 的免疫浸润水平在多种肉瘤类型中是最高的，而与其他横纹肌肉瘤亚型的低水平形成对比。较低的免疫浸润与和的完全缺失有关。对 PRMS 的遗传、表观遗传和免疫景观的全面描述为改善预后和治疗探索提供了路线图。