Background/Objectives: Myeloid sarcoma (MS) is a rare extramedullary manifestation of myeloid blasts, with limited systematic data, particularly regarding molecular (NGS) concordance between MS tissue and bone marrow. We hypothesized that clonal heterogeneity may exist between these sites due to their distinct biological environments.Methods: We conducted a systematic review and meta-analysis of 85 studies encompassing 7241 MS patients, to evaluate clinical characteristics, mutational profiles, treatment patterns, and outcomes. Mutational concordance or discordance between MS and bone marrow was assessed in a subset of 112 patients.Results: Male predominance (59%) and skin/soft tissue localization (31%) were most common.NPM1(25%) andFLT3(20%) were the most frequently reported mutations. Among 112 patients with paired sequencing, 56% showed discordance in mutational profiles.NPM1was significantly enriched in MS sites compared to bone marrow (35% vs. 21%,p= 0.02) and was associated with skin involvement. Discordance was more frequent in isolated and secondary MS. Venetoclax with hypomethylating agents achieved a 44% response rate, mainly in secondary MS. Post-transplant isolated extramedullary relapse occurred in 46% of relapsed patients and was linked to high rates of graft-versus-host disease. The pooled median overall survival was 12.8 months.Conclusions: MS demonstrates significant molecular heterogeneity. Routine site-specific NGS profiling may guide targeted therapy in this rare disease.
背景/目的：髓系肉瘤（MS）是一种罕见的髓系原始细胞髓外表现，目前系统性数据有限，尤其缺乏关于MS组织与骨髓间分子（NGS）一致性的研究。我们推测，由于两者生物学环境存在差异，这些部位间可能存在克隆异质性。 方法：我们对涵盖7241例MS患者的85项研究进行了系统性回顾与荟萃分析，以评估其临床特征、突变谱、治疗模式及预后。在112例患者的亚组中评估了MS与骨髓间的突变一致性或差异性。 结果：男性占主导（59%）和皮肤/软组织受累（31%）最为常见。NPM1（25%）和FLT3（20%）是最常报告的突变。在112例进行配对测序的患者中，56%显示突变谱存在差异。与骨髓相比，NPM1在MS部位显著富集（35%对21%，p=0.02），且与皮肤受累相关。突变差异在孤立性和继发性MS中更为常见。维奈克拉联合去甲基化药物治疗的缓解率为44%，主要见于继发性MS。移植后孤立性髓外复发占复发患者的46%，并与高移植物抗宿主病发生率相关。汇总中位总生存期为12.8个月。 结论：MS存在显著的分子异质性。常规的病灶特异性NGS分析可能为这一罕见疾病的靶向治疗提供指导。
Clinical and Molecular Characterization of Myeloid Sarcoma: A Systematic Review and Meta-Analysis
肿瘤(癌症)患者之家