Background

The aim of this study was to evaluate the landscape of gene mutations and the clinical significance of tumor mutation burden (TMB) in patients with soft tissue sarcoma who underwent surgical resection and received conventional adjuvant therapy.

Methods

A total of 68 patients with soft tissue sarcoma were included. Postoperative tumor tissue specimens from the patients were collected for DNA extraction. Targeted next-generation sequencing of cancer-relevant genes was performed for the detection of gene mutations and the analysis of TMB. Univariate analysis between TMB status and prognosis was carried out using the Kaplan–Meier survival analysis, and multivariate analysis was adjusted by the Cox regression model.

Results

No specific genetic mutations associated with soft tissue sarcoma were found. The mutation frequency of TP53, PIK3C2G, NCOR1, and KRAS of the 68 patients with soft tissue sarcoma were observed in 19 cases (27.94%), 15 cases (22.06%), 14 cases (20.59%), and 14 cases (20.59%), respectively. With regard to the analysis of TMB, the overall TMB of the 68 patients with soft tissue sarcoma was relatively low (median: 2.05 per Mb (range: 0∼15.5 per Mb)). Subsequently, TMB status was divided into TMB-Low and TMB-Middle according to the median TMB. Patients with TMB-Low and TMB-Middle were 37 cases (54.41%) and 31 cases (45.59%), respectively. Overall survival analysis indicated that the median overall survival of patients with TMB-Low and TMB-Middle was not reached, and 4.5 years, respectively (P=0.015).

Conclusion

This study characterizes the genetic background of patients with STS soft tissue sarcoma. The TMB was of clinical significance for patients with soft tissue sarcoma who underwent surgical resection and received conventional adjuvant therapy.

中文翻译：

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接受手术切除并接受常规辅助治疗的软组织肉瘤患者的基因突变情况和肿瘤突变负荷的临床意义。

背景

本研究的目的是评估接受手术切除并接受常规辅助治疗的软组织肉瘤患者的基因突变情况和肿瘤突变负荷 (TMB) 的临床意义。

方法

共纳入 68 名软组织肉瘤患者。收集患者术后肿瘤组织标本进行DNA提取。对癌症相关基因进行了靶向二代测序，用于检测基因突变和分析 TMB。使用 Kaplan-Meier 生存分析进行 TMB 状态与预后之间的单变量分析，并通过 Cox 回归模型调整多变量分析。

结果

未发现与软组织肉瘤相关的特定基因突变。68例软组织肉瘤患者TP53、PIK3C2G、NCOR1、KRAS突变频率分别为19例（27.94%）、15例（22.06%）、14例（20.59%）、14例（20.59%） ）， 分别。从TMB分析来看，68例软组织肉瘤患者的总体TMB相对较低（中位数：2.05/Mb（范围：0∼15.5/Mb））。随后，根据TMB中位数将TMB状态分为TMB-Low和TMB-Middle。TMB-Low和TMB-Middle患者分别为37例（54.41%）和31例（45.59%）。总生存分析表明，TMB-Low 和 TMB-Middle 患者的中位总生存期未达到，分别为 4.5 年（P = 0.015）。

结论

本研究描述了 STS 软组织肉瘤患者的遗传背景。TMB对于接受手术切除并接受常规辅助治疗的软组织肉瘤患者具有临床意义。