Singh Jyotsna, Mohan Trishala, Sahu Saumya, Sharma Mehar C, Suri Ashish, Sarkar Chitra, Suri Vaishali
Neuropathology Laboratory, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.
Neurooncol Pract. 2024 Apr 9;11(4):464-474. doi: 10.1093/nop/npae027. eCollection 2024 Aug.
The 5th edition of the World Health Organization (WHO) Central Nervous System (CNS) tumor classification for meningiomas acknowledges the clinical relevance of genomic profiling studies and emphasizes the importance of incorporating molecular information alongside histopathological features, leading to more accurate diagnoses and improved patient care.
We analyzed 206 meningioma samples (108 histological grade 1, 89 grade 2, and 9 grade 3) to study mutations, homozygous deletion, loss of H3K27me3, and p16 expression. The association of these molecular markers with survival outcomes was also assessed.
mutation was found in 4.85% of cases, predominantly occurring in histological grade 2 (11.24%), while none of the histological grade 1 or 3 meningiomas exhibited this mutation. gene deletion was absent in grade 1 and detected in 2.24% of grade2, and 33.3% of histological grade 3 cases. There was a significant increase in loss of H3K27me3 with higher tumor grades, while p16 loss was observed in over 50% of cases across all histological grades. The presence of mutation and homozygous deletion resulted in the reclassification of 5.33% (11/206) of meningiomas as integrated grade 3. mutation and deletion, emerged as prognostically relevant markers, showing significant differences in progression-free survival (PFS) between integrated grade 3 and histological grade 2 meningiomas ( = .0002).
mutations are the most clinically relevant genetic alterations in meningiomas. Routine testing for mutations can identify high-risk cases of histologically grade 2 meningiomas, providing crucial prognostic information for treatment planning. alteration is rare and not cost-effective in assessing meningiomas. Immunohistochemical assessment of p16 and H3K27me3 expression lacks significant prognostic value. Assessment of mutations offers a cost-effective and valuable diagnostic tool for meningiomas.
世界卫生组织(WHO)中枢神经系统(CNS)肿瘤分类第5版认可了脑膜瘤基因组分析研究的临床相关性,并强调了将分子信息与组织病理学特征相结合的重要性,从而实现更准确的诊断并改善患者护理。
我们分析了206例脑膜瘤样本(108例组织学1级,89例2级,9例3级),以研究[基因名称]突变、纯合缺失、H3K27me3缺失和p16表达情况。还评估了这些分子标志物与生存结果的关联。
在4.85%的病例中发现了[基因名称]突变,主要发生在组织学2级(11.24%),而组织学1级或3级脑膜瘤均未出现这种突变。1级中未检测到[基因名称]基因缺失,2级中检测到2.24%,组织学3级病例中检测到33.3%。随着肿瘤分级升高,H3K27me3缺失显著增加,而在所有组织学分级的病例中,超过50%观察到p16缺失。[基因名称]突变和[基因名称]纯合缺失导致5.33%(11/206)的脑膜瘤重新分类为整合3级。[基因名称]突变和[基因名称]缺失成为具有预后意义的标志物,整合3级和组织学2级脑膜瘤之间的无进展生存期(PFS)存在显著差异(P = 0.0002)。
[基因名称]突变是脑膜瘤中最具临床相关性的基因改变。对[基因名称]突变进行常规检测可识别组织学2级脑膜瘤的高危病例,为治疗方案制定提供关键的预后信息。[基因名称]改变罕见,在评估脑膜瘤时不具有成本效益。p16和H3K27me3表达的免疫组化评估缺乏显著的预后价值。对[基因名称]突变的评估为脑膜瘤提供了一种具有成本效益且有价值的诊断工具。