Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, University of Missouri School of Medicine, Kansas City, Missouri.
Mod Pathol. 2023 Nov;36(11):100294. doi: 10.1016/j.modpat.2023.100294. Epub 2023 Jul 31.
Gliomas harboring oncogenic ROS1 alterations are uncommon and primarily described in infants. Our goal was to characterize the clinicopathological features and molecular signatures of the full spectrum of ROS1 fusion-positive gliomas across all age groups. Through a retrospective multi-institutional collaboration, we report a collection of unpublished ROS1 fusion gliomas along with the characterization and meta-analysis of new and published cases. A cohort of 32 new and 58 published cases was divided into the following 3 age groups: 19 infants, 40 pediatric patients, and 31 adults with gliomas. Tumors in infants and adults showed uniformly high-grade morphology; however, tumors in pediatric patients exhibited diverse histologic features. The GOPC::ROS1 fusion was prevalent (61/79, 77%) across all age groups, and 10 other partner genes were identified. Adult tumors showed recurrent genomic alterations characteristic of IDH wild-type glioblastoma, including the +7/-10/CDKN2A deletion; amplification of CDK4, MDM2, and PDGFRA genes; and mutations involving TERTp, TP53, PIK3R1, PIK3CA, PTEN, and NF1 genes. Infant tumors showed few genomic alterations, whereas pediatric tumors showed moderate genomic complexity. The outcomes were significantly poorer in adult patients. Although not statistically significant, tumors in infant and pediatric patients with high-grade histology and in hemispheric locations appeared more aggressive than tumors with lower grade histology or those in nonhemispheric locations. In conclusion, this study is the largest to date to characterize the clinicopathological and molecular signatures of ROS1 fusion-positive gliomas from infant, pediatric, and adult patients. We conclude that ROS1 likely acts as a driver in infant and pediatric gliomas and as a driver or codriver in adult gliomas. Integrated comprehensive clinical testing might be helpful in identifying such patients for possible targeted therapy.
携有致癌性 ROS1 改变的神经胶质瘤较为少见,主要在婴儿中被描述。我们的目标是描述全年龄段 ROS1 融合阳性神经胶质瘤的临床病理特征和分子特征。通过回顾性多机构合作,我们报告了一系列未发表的 ROS1 融合神经胶质瘤,以及对新的和已发表病例的特征描述和荟萃分析。一个由 32 例新病例和 58 例已发表病例组成的队列被分为以下 3 个年龄组:19 例婴儿、40 例儿科患者和 31 例成人。婴儿和成人的肿瘤均表现为形态均匀的高级别;然而,儿科患者的肿瘤表现出多样化的组织学特征。GOPC::ROS1 融合在所有年龄组中均普遍存在(79 例中有 61 例,77%),还发现了 10 个其他的融合伙伴基因。成人肿瘤显示出 IDH 野生型胶质母细胞瘤的典型复发性基因组改变,包括+7/-10/CDKN2A 缺失;CDK4、MDM2 和 PDGFRA 基因的扩增;以及 TERTp、TP53、PIK3R1、PIK3CA、PTEN 和 NF1 基因的突变。婴儿肿瘤的基因组改变较少,而儿科肿瘤显示出中等程度的基因组复杂性。成人患者的结局明显较差。虽然没有统计学意义,但高级别组织学和位于大脑半球的婴儿和儿科患者的肿瘤似乎比低级别组织学或非大脑半球位置的肿瘤更具侵袭性。总之,这项研究是迄今为止最大的一项研究,旨在描述来自婴儿、儿童和成人患者的 ROS1 融合阳性神经胶质瘤的临床病理和分子特征。我们得出的结论是,ROS1 可能在婴儿和儿童神经胶质瘤中作为驱动基因,在成人神经胶质瘤中作为驱动基因或共驱动基因。综合全面的临床检测可能有助于识别此类患者,以便进行可能的靶向治疗。