Magnetic Resonance Imaging Features of Sporadic Optic Chiasmatic-Hypothalamic Gliomas and Correlation with Histopathology and BRAF Gene Alterations.

IF 0.9 3区医学 Q4 NEUROSCIENCES Neurology India Pub Date : 2024-07-01 Epub Date: 2024-08-31 DOI:10.4103/neurol-india.ni_521_22

Tanvi Vaidya, Arpita Sahu, Sridhar Epari, Omshree Shetty, Mamta Gurav, Ayushi Sahay, Shraddha Lad, Vineeth Kurki, Tejas Kapadia, Girish Chinnaswamy, Jayant Goda, Prakash Shetty, Rahul Krishnatry, Abhishek Chatterjee, Vikas Singh, Aliasgar Moiyadi, Tejpal Gupta

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Abstract

Objective: Sporadic optic chiasmatic-hypothalamic gliomas (OCHGs), though histologically low-grade tumors, manifest as aggressive neoplasms radiologically, leading to difficulty in diagnosis. Molecular alterations of the BRAF gene are detectable in a majority of sporadic OCHGs. The purpose of our study was to elucidate the characteristic imaging features of sporadic OCHGs and to investigate whether imaging phenotypes could potentially correlate with specific BRAF gene alterations associated with these tumors.

Methods: We retrospectively reviewed baseline magnetic resonance (MR) images and medical records of 26 patients with histopathologically proven sporadic OCHGs. MR imaging (MRI) features were systematically evaluated. Statistical analysis was performed to determine whether there was a significant association between imaging findings and BRAF molecular alterations.

Results: Twenty-two cases (84.6%) presented with solid-cystic masses, while four (15.4%) presented with purely solid lesions. In all 26 cases, the solid component revealed central necrosis; there was minimal necrosis in 11 cases (42.3%), moderate in 8 (30.7%), and marked in 7 (26.9%). The presence of multiple cysts (>4) and minimal necrosis showed a significant association with BRAFV600E mutation (P < 0.005). Marked necrosis in the solid component significantly correlated with BRAF wild genotype (P < 0.001). The presence of a single peripheral cyst significantly correlated with BRAF fusion (P = 0.04).

Conclusion: Sporadic OCHGs have a distinctive appearance on imaging. The solid-cystic composition coupled with varying degrees of central necrosis are clues to the radiological diagnosis of this entity and can facilitate early recognition in clinical practice. Imaging could potentially serve as a non-invasive predictor of the BRAF alteration status, thereby serving as a prognostic marker and guiding personalized management.

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散发性视桥-下丘脑胶质瘤的磁共振成像特征以及与组织病理学和 BRAF 基因改变的相关性

目的：散发性视神经脊索-下丘脑胶质瘤（OCHGs）虽然在组织学上属于低级别肿瘤，但在放射学上表现为侵袭性肿瘤，导致诊断困难。在大多数散发性 OCHGs 中可检测到 BRAF 基因的分子改变。我们的研究旨在阐明散发性 OCHGs 的特征性影像学特征，并探讨影像学表型是否可能与这些肿瘤相关的特定 BRAF 基因改变相关：我们回顾性地查看了26例经组织病理学证实的散发性OCHG患者的基线磁共振（MR）图像和病历。对磁共振成像（MRI）特征进行了系统评估。通过统计分析确定成像结果与 BRAF 分子改变之间是否存在显著关联：22例病例（84.6%）表现为实性囊性肿块，4例（15.4%）表现为纯实性病变。在所有 26 例病例中，实性成分均显示中心坏死；11 例（42.3%）坏死程度较轻，8 例（30.7%）为中度坏死，7 例（26.9%）为明显坏死。出现多个囊肿（>4 个）和轻度坏死与 BRAFV600E 基因突变有显著相关性（P < 0.005）。实体部分明显坏死与 BRAF 野生基因型显著相关（P < 0.001）。单个周边囊肿的存在与BRAF融合有显著相关性（P = 0.04）：结论：散发性 OCHG 在影像学上有独特的表现。结论：零星的 OCHGs 在影像学上有独特的表现，实性囊肿成分加上不同程度的中心坏死是该实体放射学诊断的线索，有助于临床实践中的早期识别。影像学可作为 BRAF 改变状态的非侵入性预测指标，从而作为预后标志并指导个性化治疗。

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来源期刊

Neurology India 医学-神经科学

CiteScore

1.60

自引率

70.40%

发文量

434

审稿时长

2 months

期刊介绍： Neurology India (ISSN 0028-3886) is Bi-monthly publication of Neurological Society of India. Neurology India, the show window of the progress of Neurological Sciences in India, has successfully completed 50 years of publication in the year 2002. ‘Neurology India’, along with the Neurological Society of India, has grown stronger with the passing of every year. The full articles of the journal are now available on internet with more than 20000 visitors in a month and the journal is indexed in MEDLINE and Index Medicus, Current Contents, Neuroscience Citation Index and EMBASE in addition to 10 other indexing avenues. This specialty journal reaches to about 2000 neurologists, neurosurgeons, neuro-psychiatrists, and others working in the fields of neurology.