Data on germline mutations in soft tissue and bone sarcomas are scarce. We sought to identify the prevalence of germline mutations in adult sarcoma patients treated at a tertiary cancer center. Newly diagnosed patients were offered germline genetic testing via an 84-gene panel. The prevalence of pathogenic germline variants (PGVs) and their association with disease-, and patient- related factors are reported. A total of 87 patients were enrolled, the median age was 48 (19–78) years, and 47 (54%) were females. Gastrointestinal stromal tumors (n= 12, 13.8%), liposarcoma (n= 10, 11.5%), and Ewing sarcoma (n= 10, 11.5%) were the main subtypes. A total of 20 PGVs were detected in 18 (20.7%) patients. Variants of uncertain significance, in the absence of PGVs, were detected in 40 (45.9%) patients. Young age (p= 0.031), presence of a second primary cancer (p= 0.019), and female gender (p= 0.042) were correlated with the presence of PGVs. All identified PGVs have potential clinical actionability and cascade testing, and eight (44.44%) suggested eligibility for a targeted therapy. Almost one in five adult patients with soft tissue and bone sarcomas harbor pathogenic or likely pathogenic variants. Many of these variants are potentially actionable, and almost all have implications on cancer screening and family counselling. In this cohort from the Middle East, younger age, presence of a second primary tumor, and female gender were significantly associated with higher PGVs rates. Larger studies able to correlate treatment outcomes with genetic variants are highly needed.
关于软组织与骨肉瘤种系突变的数据较为匮乏。本研究旨在明确某三级癌症中心成年肉瘤患者种系突变的流行情况。通过84基因检测组合，为新诊断患者提供种系基因检测。本文报告了致病性种系变异（PGVs）的流行率及其与疾病和患者相关因素的关联。共纳入87例患者，中位年龄48岁（范围19-78岁），其中女性47例（54%）。主要亚型包括胃肠道间质瘤（12例，13.8%）、脂肪肉瘤（10例，11.5%）和尤文肉瘤（10例，11.5%）。在18例（20.7%）患者中共检测到20个PGVs。在未检出PGVs的患者中，40例（45.9%）检测到意义未明变异。年轻（p=0.031）、第二原发癌存在（p=0.019）和女性（p=0.042）与PGVs存在相关。所有检出的PGVs均具有潜在的临床可干预性和级联检测价值，其中8例（44.44%）提示符合靶向治疗条件。近五分之一的成年软组织与骨肉瘤患者携带致病性或可能致病性变异。这些变异多数具有潜在干预价值，且几乎全部对癌症筛查和家族遗传咨询具有指导意义。在本中东地区队列中，年轻、第二原发肿瘤存在及女性与较高PGVs率显著相关。亟需更大规模研究以建立基因变异与治疗结局的关联。
肿瘤(癌症)患者之家