Bone Marrow Transplantation Center, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Department of Hematology, The First People's Hospital of Yancheng, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, China.
Cancer Med. 2024 Jul;13(14):e70027. doi: 10.1002/cam4.70027.
There are limited studies on mutation profiling for Peripheral T-cell lymphomas (PTCL) in the Chinese population. We retrospectively analyzed the clinical and genetic landscape of 66 newly diagnosed Chinese patients. Targeted next-generation sequencing (NGS) was performed for tissues from these patients. At least one mutation was detected in 60 (90.9%) patients, with a median number of 3 (0-7) mutations, and 32 (48.5%) cases detected with more than 4 mutations. The genes with higher mutation frequencies were TET2, RHOA, DNMT3A, IDH2, TP53, STAT3, and KMT2D respectively. When mutant genes are classified by functional group, the most prevalent mutations are related to epigenetics and signal transduction. IPI ≥2, PIT ≥2, and failure to achieve partial remission (PR) were factors for inferior progression-free survival (PFS) and overall survival (OS). Multivariate analysis showed TP53 was an adverse factor for PFS (HR, 3.523; 95% CI, 1.262-9.835; p = 0.016), and KMT2D was an adverse factor for OS (HR, 10.097; 95% CI, 1.000-101.953; p = 0.048). Mutation profiling could help differentiate distinct types of PTCL and serve as a useful tool for determining treatment options and prognoses.
在中国人群中，关于外周 T 细胞淋巴瘤（PTCL）的突变分析研究有限。我们回顾性分析了 66 例新诊断的中国患者的临床和遗传特征。对这些患者的组织进行了靶向下一代测序（NGS）。在 60 例（90.9%）患者中至少检测到一个突变，中位数为 3（0-7）个突变，32 例（48.5%）患者检测到 4 个以上突变。突变频率较高的基因分别为 TET2、RHOA、DNMT3A、IDH2、TP53、STAT3 和 KMT2D。当按功能组对突变基因进行分类时，最常见的突变与表观遗传学和信号转导有关。IPI≥2、PIT≥2 和未能达到部分缓解（PR）是无进展生存期（PFS）和总生存期（OS）较差的因素。多变量分析显示 TP53 是 PFS 的不良预后因素（HR，3.523；95%CI，1.262-9.835；p=0.016），KMT2D 是 OS 的不良预后因素（HR，10.097；95%CI，1.000-101.953；p=0.048）。突变分析可以帮助区分不同类型的 PTCL，并作为确定治疗选择和预后的有用工具。
