Anand Nidhi, Husain Nuzhat, Varshney Renu, Malhotra Kiran Preet, Kaif Mohammad
Department of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Department of Neurosurgery, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
J Carcinog. 2021 Oct 11;20:20. doi: 10.4103/jcar.jcar_17_21. eCollection 2021.
Diffuse gliomas in the adult population are the most common primary central nervous system (CNS) tumors. The World Health Organization incorporated isocitrate dehydrogenase (IDH) mutations and 1p/19q co-deletion with histopathological features into an "integrated diagnosis" in the revised classification of tumors of CNS. These molecular subgroups of diffuse gliomas are found to stratify patients into prognostically distinct groups better than the histological classification. The objectives of the current study were to assess the frequency of IDH mutation, ATRX expression loss, p53 overexpression, and 1p/19q co-deletion detection in adult diffuse gliomas (Grade II, III, and IV) and to correlate them with clinicopathological and histopathological features.
The current study was a tertiary care hospital-based retrospective case series of 112 cases of adult diffuse gliomas. Immunohistochemistry (IHC)-based molecular detection was performed for IDH-1, ATRX, and p53 and fluorescent hybridization (FISH) was performed for 1p/19q co-deletion detection.
IDH-1 mutation was present in 30.4% ( = 34/112) cases, ATRX expression was lost in 18% ( = 19/104) cases, p53 was mutated in 39.3% ( = 42/107) cases and 1p19q was co-deleted in 25% ( = 4/16) cases. In the IDH1 mutant cases, with retained ATRX, FISH for 1p/19q co-deletion was performed and was co-deleted in four cases.
The results of the present study indicate that IHC including IDH1/2, ATRX, and p53 is useful for the molecular classification of diffuse gliomas, which could be useful for the evaluation of prognosis, especially Grade III and II. Although the immunohistochemical approach does not replace genetic testing completely, it is a practical and powerful means of assessing molecular genetic changes. IDH mutations are the established markers of better prognosis in diffuse gliomas.
成人弥漫性胶质瘤是最常见的原发性中枢神经系统（CNS）肿瘤。世界卫生组织在中枢神经系统肿瘤的修订分类中将异柠檬酸脱氢酶（IDH）突变和1p/19q共缺失与组织病理学特征纳入“综合诊断”。发现弥漫性胶质瘤的这些分子亚组比组织学分类能更好地将患者分层为预后不同的组。本研究的目的是评估成人弥漫性胶质瘤（二级、三级和四级）中IDH突变、ATRX表达缺失、p53过表达和1p/19q共缺失检测的频率，并将它们与临床病理和组织病理学特征相关联。
本研究是基于三级护理医院的112例成人弥漫性胶质瘤的回顾性病例系列。对IDH-1、ATRX和p53进行基于免疫组织化学（IHC）的分子检测，对1p/19q共缺失检测进行荧光原位杂交（FISH）。
30.4%（=34/112）的病例存在IDH-1突变，18%（=19/104）的病例ATRX表达缺失，39.3%（=42/107）的病例p53突变，25%（=4/16）的病例1p19q共缺失。在IDH1突变病例中，对于保留ATRX的病例，进行了1p/19q共缺失的FISH检测，其中4例共缺失。
本研究结果表明，包括IDH1/2、ATRX和p53的免疫组织化学对弥漫性胶质瘤的分子分类有用，这可能有助于预后评估，尤其是二级和三级胶质瘤。虽然免疫组织化学方法不能完全替代基因检测，但它是评估分子遗传变化的一种实用且有力的手段。IDH突变是弥漫性胶质瘤预后较好的既定标志物。
