The partial loss of SMARCB1/INI1 expression has recently been reported in skull base conventional chordomas, with possible therapeutic implications. We retrospectively analyzed 89 patients with conventional spinal chordomas to investigate the differences in the immunohistochemical expression of SMARCB1/INI1 and the underlying genetic alterations in theSMARCB1gene. Moreover, we assessed the correlation of clinicopathological features (age, gender, tumor size, tumor location, surgical margins, Ki67 labelling index, SMARCB1/INI1 pattern, previous surgery, previous treatment, type of surgery, and the Charlson Comorbidity Index) with patient survival. Our cohort included 51 males and 38 females, with a median age at diagnosis of 61 years. The median tumor size at presentation was 5.9 cm. The 5-year overall survival (OS) and 5-year disease-free survival (DFS) rates were 90.8% and 54.9%, respectively. Partial SMARCB1/INI1 loss was identified in 37 (41.6%) patients with conventional spinal chordomas (27 mosaic and 10 clonal). The most frequent genetic alteration detected was the monoallelic deletion of a portion of the long arm of chromosome 22, which includes theSMARCB1gene. Partial loss of SMARCB1/INI1 was correlated with cervical–thoracic–lumbar tumor location (p= 0.033) and inadequate surgical margins (p= 0.007), possibly due to the high degree of tumor invasiveness in this site. Among all the considered clinicopathological features related to patient survival, only tumor location in the sacrococcygeal region and adequate surgical margins positively impacted DFS. In conclusion, partial SMARCB1/INI1 loss, mostly due to 22q deletion, was detected in a significant number of patients with conventional spinal chordomas and was correlated with mobile spine location and inadequate surgical margins.
近期有报道称，颅底经典型脊索瘤中存在SMARCB1/INI1表达的部分缺失，这可能具有治疗意义。我们回顾性分析了89例经典型脊柱脊索瘤患者，以研究SMARCB1/INI1免疫组化表达的差异及SMARCB1基因的潜在遗传学改变。此外，我们评估了临床病理特征（年龄、性别、肿瘤大小、肿瘤位置、手术切缘、Ki67标记指数、SMARCB1/INI1表达模式、既往手术史、既往治疗史、手术类型及查尔森合并症指数）与患者生存期的相关性。本研究队列包括51例男性和38例女性，诊断时的中位年龄为61岁。就诊时肿瘤中位大小为5.9厘米。5年总生存率和5年无病生存率分别为90.8%和54.9%。在37例（41.6%）经典型脊柱脊索瘤患者中检测到SMARCB1/INI1部分缺失（27例为镶嵌型，10例为克隆型）。最常见的遗传学改变是22号染色体长臂部分区域的单等位基因缺失，该区域包含SMARCB1基因。SMARCB1/INI1部分缺失与颈-胸-腰椎肿瘤位置（p=0.033）及手术切缘不足（p=0.007）相关，这可能与该部位肿瘤的高度侵袭性有关。在所有与患者生存期相关的临床病理特征中，仅骶尾区肿瘤位置和充分的手术切缘对无病生存期产生积极影响。总之，在相当数量的经典型脊柱脊索瘤患者中检测到SMARCB1/INI1部分缺失（主要归因于22q缺失），且与活动性脊柱位置和手术切缘不足相关。
肿瘤(癌症)患者之家