Osteoncology, Bone and Soft Tissue Sarcomas and Innovative Therapies, IRCCS Istituto Ortopedico Rizzoli, Via Pupilli 1, Bologna, 40136, Italy.
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
BMC Cancer. 2023 Sep 26;23(1):907. doi: 10.1186/s12885-023-11396-y.
Heterozygous isocitrate dehydrogenase (IDH) mutations occur in about half of conventional central bone chondrosarcomas (CCBC). Aim of this study was to assess the frequency and prognostic impact of IDH mutations in high grade CCBC patients.
64 patients with G2 and G3 CCBC were included. DNA extraction, PCR amplification of IDH1/2 exon 4s, and sequencing analysis with Sanger were performed.
IDH mutations were detected in 24/54 patients (44%): IDH1 in 18, IDH2 in 4, and both IDH1/2 in 2 patients. The frequency of mutations was 37% in G2 vs. 69% in G3 (p = 0.039), and 100% in three Ollier disease associated chondrosarcoma. 5-year overall survival (OS) at 124 months (range 1-166) was 51%, with no significant difference based on the IDH mutational status: 61% in IDHmut vs. 44% in IDH wild type (IDHwt). The 5-year relapse free survival (RFS) was 33% (95% CI:10-57) for IDHmut vs. 57% (95%CI: 30-77) for IDHwt. Progression free survival (PFS) was 25% (95%CI:1-65) IDHmut vs. 16% (95%CI: 0.7-52) IDHwt. 55% (5/9) of IDHmut G2 became higher grade at the recurrence, as compared with 25% (3/12) of G2 IDHwt.
This study shows a higher frequency of IDH mutations in G3 CCBC as compared with G2. No significant differences in OS, RFS, and PFS by mutational status were detected. After relapse, a higher rate of G3 for IDH mutated CCBC was observed.
异柠檬酸脱氢酶（IDH）杂合突变发生于约一半的常规中央骨软骨肉瘤（CCBC）中。本研究旨在评估 IDH 突变在高级别 CCBC 患者中的频率和预后影响。
纳入 64 例 G2 和 G3 CCBC 患者。提取 DNA，进行 IDH1/2 外显子 4 的 PCR 扩增和 Sanger 测序分析。
在 54 例患者中检测到 IDH 突变 24 例（44%）：IDH1 18 例，IDH2 4 例，IDH1/2 均突变 2 例。G2 中的突变频率为 37%，G3 中为 69%（p=0.039），三例 Ollier 病相关软骨肉瘤中为 100%。124 个月（1-166）的 5 年总生存率（OS）为 51%，IDH 突变状态无显著差异：IDHmut 组为 61%，IDHwt 组为 44%。IDHmut 组的 5 年无复发生存率（RFS）为 33%（95%CI：10-57），IDHwt 组为 57%（95%CI：30-77）。无进展生存率（PFS）IDHmut 组为 25%（95%CI：1-65），IDHwt 组为 16%（95%CI：0.7-52）。与 G2 IDHwt 组的 25%（3/12）相比，G2 IDHmut 组中有 55%（5/9）在复发时出现更高级别。
与 G2 相比，本研究显示 G3 CCBC 中 IDH 突变的频率更高。突变状态对 OS、RFS 和 PFS 无显著影响。在复发后，观察到 IDH 突变的 CCBC 发生 G3 的比例更高。
Zotero 插件
