{"title":"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","authors":"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","doi":"10.4103/neurol-india.ni_521_22","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"72 4","pages":"747-755"},"PeriodicalIF":0.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Magnetic Resonance Imaging Features of Sporadic Optic Chiasmatic-Hypothalamic Gliomas and Correlation with Histopathology and BRAF Gene Alterations.\",\"authors\":\"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\",\"doi\":\"10.4103/neurol-india.ni_521_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":19429,\"journal\":{\"name\":\"Neurology India\",\"volume\":\"72 4\",\"pages\":\"747-755\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology India\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/neurol-india.ni_521_22\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology India","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/neurol-india.ni_521_22","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/31 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
Magnetic Resonance Imaging Features of Sporadic Optic Chiasmatic-Hypothalamic Gliomas and Correlation with Histopathology and BRAF Gene Alterations.
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.
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.
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