具有核样特征的高级别星形细胞瘤:单机构病例系列和文献回顾。

IF 6.2 2区 医学 Q1 NEUROSCIENCES
Eric A Goethe, Subhiksha Srinivasan, Swaminathan Kumar, Sujit S Prabhu, Maria A Gubbiotti, Sherise D Ferguson
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引用次数: 0

摘要

高级别胶质样星形细胞瘤(HGAP)是最近发现的一种原发性脑肿瘤,由于其组织学特征通常与胶质母细胞瘤(GBM)等其他肿瘤相容,因此首先需要特定的甲基化模式进行诊断。以CDKN2A/B、NF1、BRAF、FGFR1和ATRX的分子改变为特征,它们可能位于中枢神经系统的任何位置,但倾向于后窝。报告仅限于回顾性病例系列,护理标准尚未建立。我们对我院所有HGAP患者的电子病历进行了回顾性分析。我们查询了人口统计学、放射学、临床、外科、病理和结局数据的记录。18例患者纳入研究,随访时间中位数为17.1个月。其中12例(63.2%)为女性,平均年龄为43岁(24-67岁)。最常见的肿瘤部位为小脑(8例,42.1%)和丘脑(6例,31.6%)。在影像学上,肿瘤最常见的是均匀增强(10例,52.6%)或边缘增强伴中央坏死(5例,26.3%)。10例(52.6%)行活检,9例(47.4%)行切除,其中4例(44.4%)行全切除。辅助治疗包括放射治疗16例(88.9%)和全身治疗16例(88.9%)。14例患者(77.8%)初始全身治疗为替莫唑胺。一名患者接受了前期曲美替尼(一种MEK1抑制剂),一名患者接受了前期达非尼(一种BRAF抑制剂)。最后随访,11例(57.9%)患者病情进展。中位无进展生存期(PFS)为5.4个月(1.6-28.2个月),中位总生存期(OS)尚未达到。HGAP是一种新发现的罕见的神经胶质肿瘤,没有既定的治疗标准。它的攻击性行为和可靶向的突变值得进一步研究关于该实体结果的预测因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-grade astrocytoma with piloid features: a single-institution case series and literature review.

High-grade astrocytoma with piloid features (HGAP) is a recently described primary brain tumor and the first requiring a specific methylation pattern for diagnosis, as its histologic features are often compatible with other tumors such as glioblastoma (GBM). Characterized by molecular alterations in CDKN2A/B, NF1, BRAF, FGFR1, and ATRX, they may be located anywhere in the CNS but show a predilection for the posterior fossa. Reports are limited to retrospective case series, and the standard of care is not yet established. We performed a retrospective review of electronic medical records of all patients with HGAP at our institution. Records were queried for demographic, radiographic, clinical, surgical, pathologic, and outcome data. Eighteen patients were included with a median 17.1 months follow-up. Of these, 12 (63.2%) were women with a mean age of 43 years (range 24-67). The most common tumor locations were the cerebellum (8 patients, 42.1%) and thalamus (6 patients, 31.6%). On imaging, tumors were most commonly homogeneously contrast-enhancing (10 patients, 52.6%) or rim enhancing with central necrosis (5 patients, 26.3%). Ten patients (52.6%) underwent biopsy, while nine (47.4%) underwent resection, of which four (44.4%) underwent gross total resection. Adjuvant therapy included radiation in 16 patients (88.9%) and systemic treatment in 16 patients (88.9%). The initial systemic treatment was temozolomide in 14 patients (77.8%). One patient received upfront trametinib (a MEK1 inhibitor), and one patient received upfront dabrafenib (a BRAF inhibitor). At last follow up, 11 patients (57.9%) had progressive disease. Median progression-free survival (PFS) was 5.4 months (range 1.6-28.2 months), and median overall survival (OS) had not been reached. HGAP is a newly described rare glial tumor without an established standard of care. Its aggressive behavior and targetable mutations warrant further investigation regarding predictors of outcome for this entity.

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来源期刊
Acta Neuropathologica Communications
Acta Neuropathologica Communications Medicine-Pathology and Forensic Medicine
CiteScore
11.20
自引率
2.80%
发文量
162
审稿时长
8 weeks
期刊介绍: "Acta Neuropathologica Communications (ANC)" is a peer-reviewed journal that specializes in the rapid publication of research articles focused on the mechanisms underlying neurological diseases. The journal emphasizes the use of molecular, cellular, and morphological techniques applied to experimental or human tissues to investigate the pathogenesis of neurological disorders. ANC is committed to a fast-track publication process, aiming to publish accepted manuscripts within two months of submission. This expedited timeline is designed to ensure that the latest findings in neuroscience and pathology are disseminated quickly to the scientific community, fostering rapid advancements in the field of neurology and neuroscience. The journal's focus on cutting-edge research and its swift publication schedule make it a valuable resource for researchers, clinicians, and other professionals interested in the study and treatment of neurological conditions.
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