Breast Center, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
Hebei Provincial Key Laboratory of Tumor Microenvironment and Drug Resistance, Shijiazhuang, China.
Neoplasma. 2023 Apr;70(2):188-198. doi: 10.4149/neo_2023_221117N1110. Epub 2023 Feb 23.
Protein tyrosine phosphatases non-receptor 13 (PTPN13) could be a potential biomarker in breast cancer (BRCA), but its genetic variation and biological significance in BRCA remain undefined. Hereon, we comprehensively investigated the clinical implication of PTPN13 expression/gene mutation in BRCA. In our study, a total of 14 cases of triple-negative breast cancers (TNBC) treated with neoadjuvant therapy were enrolled, and post-operation TNBC tissues were collected for next-generation sequencing (NGS) analysis (422 genes including PTPN13). According to the disease-free survival (DFS) time, 14 TNBC patients were divided into Group A (long-DFS) and Group B (short-DFS). The NGS data displayed that the overall mutation rate of PTPN13 was 28.57% as the third highest mutated gene, and PTPN13 mutations appeared only in Group B with short-DFS. In addition, The Cancer Genome Atlas (TCGA) database demonstrated that PTPN13 was lower expressed in BRCA than in normal breast tissues. However, PTPN13 high expression was identified to be related to a favorable prognosis in BRCA using data from the Kaplan-Meier plotter. Moreover, Gene Set Enrichment Analysis (GSEA) revealed that PTPN13 is potentially involved in interferon signaling, JAK/STAT signaling, Wnt/β-catenin signaling, PTEN pathway, and MAPK6/MAPK4 signaling in BRCA. This study provided evidence that PTPN13 might be a tumor suppressor gene and a potential molecular target for BRCA, and genetic mutation and/or low expression of PTPN13 predicted an unfavorable prognosis in BRCA. The anticancer effect and molecular mechanism of PTPN13 in BRCA may be associated with some tumor-related signaling pathways.
蛋白酪氨酸磷酸酶非受体 13（PTPN13）可能是乳腺癌（BRCA）的一个潜在生物标志物，但它在 BRCA 中的遗传变异和生物学意义尚不清楚。在此，我们全面研究了 PTPN13 表达/基因突变在 BRCA 中的临床意义。在我们的研究中，共纳入了 14 例接受新辅助治疗的三阴性乳腺癌（TNBC）患者，收集了手术后的 TNBC 组织进行下一代测序（NGS）分析（包括 PTPN13 在内的 422 个基因）。根据无病生存（DFS）时间，将 14 例 TNBC 患者分为 A 组（DFS 时间长）和 B 组（DFS 时间短）。NGS 数据显示，PTPN13 的总突变率为 28.57%，是第三大突变基因，且仅在 DFS 时间短的 B 组中出现 PTPN13 突变。此外，癌症基因组图谱（TCGA）数据库显示，PTPN13 在 BRCA 中的表达低于正常乳腺组织。然而，来自 Kaplan-Meier plotter 的数据表明，PTPN13 高表达与 BRCA 的良好预后相关。此外，基因集富集分析（GSEA）表明，PTPN13 可能参与了 BRCA 中的干扰素信号、JAK/STAT 信号、Wnt/β-catenin 信号、PTEN 通路和 MAPK6/MAPK4 信号。本研究提供了证据表明，PTPN13 可能是一种肿瘤抑制基因，也是 BRCA 的潜在分子靶点，PTPN13 的遗传突变和/或低表达预示着 BRCA 的预后不良。PTPN13 在 BRCA 中的抗癌作用和分子机制可能与一些肿瘤相关的信号通路有关。
