Tianming Qiu1, Apisara Chanchotisatien2, Zhiyong Qin1, Jinsong Wu1, Zunguo Du3, Xialing Zhang3, Fangyuan Gong1, Zhenwei Yao4, Shuguang Chu5. 1. 1Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University. 2. 2Shanghai Medical College, Fudan University. 3. 3Department of Pathology, Huashan Hospital, Shanghai Medical College, Fudan University. 4. 4Department of Radiology, Huashan Hospital, Shanghai Medical College, Fudan University; and. 5. 5Department of Radiology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.
Abstract
OBJECTIVE: H3 K27M-mutant gliomas present heterogeneously in terms of pathology, imaging, and prognosis. This study aimed to summarize the imaging characteristics of adult H3 K27M-mutant gliomas. METHODS: The authors retrospectively identified all cases of glioma diagnosed using histopathological studies (n = 3300) that tested positive for histone H3 K27M mutations (n = 75) between January 2016 and December 2018 in a single hospital. Preoperative and follow-up MR images of 66 adult patients (age ≥ 18 years) were reviewed for anatomical location, degree of contrast enhancement, enhancement patterns, hemorrhage, edema, diffusion restriction, tumor dissemination, and tumor spread. RESULTS: The study included 66 cases (40 in men, 26 in women) of H3 K27M-mutant glioma in adult patients. Tumors were found in the following sites: thalamus (n = 38), brainstem (n = 6), brainstem with cerebellar or thalamic involvement (n = 4), whole brain (n = 8), corpus callosum (n = 3), hypothalamus (n = 1), hemispheres (n = 2), and spinal cord (n = 4). All pure brainstem lesions were located posteriorly, and all corpus callosal lesions were in the genu. Most spinal tumors were long-segment lesions. Hemispheric lesions mimicked gliomatosis cerebri in presentation, with the addition of traditional midline structure involvement. Most tumors were solid with relatively uniform signals on plain MRI. Of the 61 cases with contrast-enhanced MR images, 36 (59%) showed partial to no enhancement, whereas 25 (41%) showed diffuse or irregular peripheral enhancement. Hemorrhage and edema were rare. Most lesions were solid and showed mild diffusion restriction on diffusion-weighted imaging. Tumor dissemination to the leptomeninges (n = 8) and subependymal layer (n = 3) was observed. CONCLUSIONS: The authors described the MRI features of diffuse midline glioma with H3 K27M mutation in the largest study done to date in adult patients. Tumors were found in both midline and nonmidline structures, with the thalamus being the most common site. Although adult H3 K27M-mutant gliomas demonstrated highly variable presentations in this cohort of patients, the authors were able to observe shared characteristics within each location.
OBJECTIVE: H3 K27M-mutant gliomas present heterogeneously in terms of pathology, imaging, and prognosis. This study aimed to summarize the imaging characteristics of adult H3 K27M-mutant gliomas. METHODS: The authors retrospectively identified all cases of glioma diagnosed using histopathological studies (n = 3300) that tested positive for histone H3 K27M mutations (n = 75) between January 2016 and December 2018 in a single hospital. Preoperative and follow-up MR images of 66 adult patients (age ≥ 18 years) were reviewed for anatomical location, degree of contrast enhancement, enhancement patterns, hemorrhage, edema, diffusion restriction, tumor dissemination, and tumor spread. RESULTS: The study included 66 cases (40 in men, 26 in women) of H3 K27M-mutant glioma in adult patients. Tumors were found in the following sites: thalamus (n = 38), brainstem (n = 6), brainstem with cerebellar or thalamic involvement (n = 4), whole brain (n = 8), corpus callosum (n = 3), hypothalamus (n = 1), hemispheres (n = 2), and spinal cord (n = 4). All pure brainstem lesions were located posteriorly, and all corpus callosal lesions were in the genu. Most spinal tumors were long-segment lesions. Hemispheric lesions mimicked gliomatosis cerebri in presentation, with the addition of traditional midline structure involvement. Most tumors were solid with relatively uniform signals on plain MRI. Of the 61 cases with contrast-enhanced MR images, 36 (59%) showed partial to no enhancement, whereas 25 (41%) showed diffuse or irregular peripheral enhancement. Hemorrhage and edema were rare. Most lesions were solid and showed mild diffusion restriction on diffusion-weighted imaging. Tumor dissemination to the leptomeninges (n = 8) and subependymal layer (n = 3) was observed. CONCLUSIONS: The authors described the MRI features of diffuse midline glioma with H3 K27M mutation in the largest study done to date in adult patients. Tumors were found in both midline and nonmidline structures, with the thalamus being the most common site. Although adult H3 K27M-mutant gliomas demonstrated highly variable presentations in this cohort of patients, the authors were able to observe shared characteristics within each location.
Authors: Jessica D Schulte; Robin A Buerki; Sarah Lapointe; Annette M Molinaro; Yalan Zhang; Javier E Villanueva-Meyer; Arie Perry; Joanna J Phillips; Tarik Tihan; Andrew W Bollen; Melike Pekmezci; Nicholas Butowski; Nancy Ann Oberheim Bush; Jennie W Taylor; Susan M Chang; Philip Theodosopoulos; Manish K Aghi; Shawn L Hervey-Jumper; Mitchel S Berger; David A Solomon; Jennifer L Clarke Journal: Neurooncol Adv Date: 2020-10-22
Authors: Peter Raab; Rouzbeh Banan; Arash Akbarian; Majid Esmaeilzadeh; Madjid Samii; Amir Samii; Helmut Bertalanffy; Ulrich Lehmann; Joachim K Krauss; Heinrich Lanfermann; Christian Hartmann; Roland Brüning Journal: Cancers (Basel) Date: 2022-03-09 Impact factor: 6.639