Ye Yingying, Ding Ning, Mi Lan, Shi Yunfei, Liu Weiping, Song Yuqin, Shu Shaokun, Zhu Jun
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Lymphoma, Peking University Cancer Hospital & Institute, Haidian District, No 52, Fucheng Road, Beijing, 100142, China.
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Pathology, Peking University Cancer Hospital & Institute, Haidian District, No 52, Fucheng Road, Beijing, 100142, China.
Exp Hematol Oncol. 2021 Feb 5;10(1):9. doi: 10.1186/s40164-021-00200-x.
To explore the correlation of mutation landscape with clinical outcomes in patients with peripheral T-cell lymphoma (PTCL).
We retrospectively analyzed the clinicopathological and prognosis data of 53 patients with PTCL from November 2011 to December 2017. Targeted next-generation sequencing of a 659-gene panel was performed for tissues from 53 patients with PTCLs. The correlation of mutation landscape with clinical outcomes was analyzed.
TET2 was the most frequently mutated gene (64%), followed by RHOA (43%), PCLO (23%), DNMT3A (19%), IDH2 (17%), PIEZO1 (17%) and TP53 (15%). When mutated genes were categorized into functional groups, the most common mutations were those involved in epigenetic/chromatin modification (75%), T-cell activation (74%), and the DNA repair/TP53 pathway (64%). TET2/TP53 mutations were significantly associated with positive B symptoms (P = 0.045), and elevated lactate dehydrogenase (LDH) level (P = 0.011). Moreover, TET2/TP53 mutation was a risk factor for PTCL patient survival (HR 3.574, 95% CI 1.069 - 11.941, P = 0.039). The occurrence of JAK/STAT pathway mutations in angioimmunoblastic T-cell lymphoma (AITL) patients conferred a worse progression-free survival (HR 2.366, 95% CI 0.9130-6.129, P = 0.0334).
Heterogeneous gene mutations occur in PTCL, some of which have a negative impact on the survival outcome.
探讨外周T细胞淋巴瘤（PTCL）患者的突变图谱与临床结局的相关性。
回顾性分析2011年11月至2017年12月期间53例PTCL患者的临床病理及预后数据。对53例PTCL患者的组织进行了659基因panel的靶向二代测序。分析突变图谱与临床结局的相关性。
TET2是最常发生突变的基因（64%），其次是RHOA（43%）、PCLO（23%）、DNMT3A（19%）、IDH2（17%）、PIEZO1（17%）和TP53（15%）。当将突变基因分为功能组时，最常见的突变是那些参与表观遗传/染色质修饰（75%）、T细胞活化（74%）和DNA修复/TP53途径（64%）的突变。TET2/TP53突变与B症状阳性（P = 0.045）和乳酸脱氢酶（LDH）水平升高（P = 0.011）显著相关。此外，TET2/TP53突变是PTCL患者生存的危险因素（HR 3.574，95%CI 1.069 - 11.941，P = 0.039）。血管免疫母细胞性T细胞淋巴瘤（AITL）患者中JAK/STAT途径突变的发生导致无进展生存期较差（HR 2.366，95%CI 0.9130 - 6.129，P = 0.0334）。
PTCL中存在异质性基因突变，其中一些对生存结局有负面影响。
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