Valera-Melé Marc, Mateo Sierra Olga, Sola Vendrell Emma, Guzmán de Villoria L Juan Adán, Carvajal Díaz Lorena, Gil de Sagredo Del Corral Óscar Lucas, García Leal Roberto
Servicio de Neurocirugía, Hospital General Universitario Gregorio Marañón, Madrid, España.
Servicio de Neurocirugía, Hospital General Universitario Gregorio Marañón, Madrid, España.
Neurocirugia (Astur : Engl Ed). 2019 Jan-Feb;30(1):19-27. doi: 10.1016/j.neucir.2018.09.002. Epub 2018 Oct 23.
The aim of this project is to assess diagnostic reclassification based on molecular data over morphology in a series of glial tumours since the introduction of the 2016 WHO classification of brain tumours.
Retrospective review of glial tumours (oligodendrogliomas and astrocytomas) treated in our centre between January 2012 and June 2016 in which a review of diagnosis was performed when molecular studies were added. Statistical analysis included evaluation of variables of epidemiology, morphology and molecular data (mainly IDH mutation and 1p19q codeletion), diagnostic changes after new classification was considered, and clinical impact in cases of diagnostic reclassification.
From a total of 147 glial tumours reviewed in our centre, molecular diagnosis was obtained in 74 cases (50.3%). Initial diagnosis changed in 23 cases (31%), and 20 (87%) of them had a prior histological diagnosis of oligodendroglioma (69.6% grade ii and 17.4% grade iii). Only 3 of these 23 cases diagnosis changed from astrocytoma to oligodendroglioma. Among reclassified tumours, there was a common molecular pattern, as findings showed mutant IDH in 16 cases (69.6%) and no codeletion in 20 cases (87%). According to the cell of origin, of the whole group of 27 oligodendrogliomas in our series (reclassified and non-reclassifed), 20 cases (74%) became astrocytomas, despite typical oligodendroglial morphology, due to absence of 1p19q codeletion. There was a trend for diagnosis reclassification in younger patients (<40 years), P=.065, mainly in those with a prior diagnosis of oligodendroglioma, with no statistical differences based on gender or clinical data. Besides, reclassification was more common among tumours with mutant IDH (69.6%), P=.003, than those with wild type IDH. In terms of survival, despite receiving different treatments, no significant changes were detected between reclassified and non-reclassified tumours after a mean follow-up of 16 months, partly related to lower grade of these lesions.
Within the spectrum of the glial tumours treated in our institution, this new classification including molecular genetics over morphological data has provided marked diagnostic changes. These changes appear mainly in tumours previously diagnosed as oligodendrogliomas and in younger patients, with molecular patterns of mutant IDH and 1p19q codeletion. Although diagnosis reclassification may affect clinic, prognosis or therapeutic management of these tumours, deeper and prospective studies on these specific aspects are needed.
本项目旨在评估自2016年世界卫生组织脑肿瘤分类引入以来,基于分子数据而非形态学对一系列胶质肿瘤进行的诊断重新分类。
回顾性分析2012年1月至2016年6月在本中心接受治疗的胶质肿瘤(少突胶质细胞瘤和星形细胞瘤),当增加分子研究时对诊断进行复查。统计分析包括对流行病学、形态学和分子数据(主要是异柠檬酸脱氢酶(IDH)突变和1p19q共缺失)变量的评估,考虑新分类后的诊断变化,以及诊断重新分类病例的临床影响。
在本中心复查的147例胶质肿瘤中,74例(50.3%)获得了分子诊断。23例(31%)的初始诊断发生了变化,其中20例(87%)之前组织学诊断为少突胶质细胞瘤(69.6%为二级,17.4%为三级)。这23例中只有3例诊断从星形细胞瘤变为少突胶质细胞瘤。在重新分类的肿瘤中,存在一种常见的分子模式,结果显示16例(69.6%)有IDH突变,20例(87%)无共缺失。根据起源细胞,在我们系列中的27例少突胶质细胞瘤(重新分类和未重新分类)中,20例(74%)尽管具有典型的少突胶质细胞形态,但由于缺乏1p19q共缺失而变为星形细胞瘤。年轻患者(<40岁)有诊断重新分类的趋势,P = 0.065,主要是那些之前诊断为少突胶质细胞瘤的患者,基于性别或临床数据无统计学差异。此外,与野生型IDH的肿瘤相比,IDH突变的肿瘤中重新分类更常见(69.6%),P = 0.003。在生存方面,尽管接受了不同的治疗,但在平均随访16个月后,重新分类和未重新分类的肿瘤之间未检测到显著变化,部分与这些病变的低级别有关。
在我们机构治疗的胶质肿瘤范围内,这种包括分子遗传学而非形态学数据的新分类带来了显著的诊断变化。这些变化主要出现在先前诊断为少突胶质细胞瘤的肿瘤和年轻患者中,具有IDH突变和1p19q共缺失的分子模式。尽管诊断重新分类可能影响这些肿瘤的临床、预后或治疗管理,但需要对这些特定方面进行更深入的前瞻性研究。