H3K27M-mutant diffuse midline glioma presenting as synchronous lesions involving pineal and suprasellar region: A case report and literature review |
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| Affiliation: | 1. Department of Neurosurgery, National Neuroscience Institute, Singapore;2. Division of Neurosurgery, Department of Surgery, National University Hospital, Singapore;3. Department of Diagnostic Imaging, National University Hospital, Singapore;4. Department of Pathology, National University Hospital, Singapore;1. Department of Neurosurgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;2. Department of Surgery, The University of Melbourne, Parkville, VIC, Australia;1. Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas;2. University of Kansas School of Medicine, Kansas City;3. Department of Lymphoma/Myeloma, University of Texas MD Anderson Cancer Center, Houston;4. Department of Radiation Oncology, University of Texas MD Anderson Cancer Center, Houston;5. Cancer Center of Kansas, Wichita;1. Departments of Neurological Surgery, University of Washington, Seattle, WA, USA;2. Radiology, University of Washington, Seattle, WA, USA;3. Mechanical Engineering, University of Washington, Seattle, WA, USA;4. Stroke and Applied Neuroscience Center, University of Washington, Seattle, WA, USA;1. Yong Loo Lin School of Medicine, National University of Singapore, 1E Kent Ridge Road, Level 11, Singapore 119228, Singapore;2. Division of Neurosurgery, Department of Surgery, National University Hospital, National University Health System, 1E Kent Ridge Road, Level 11, Singapore 119228, Singapore;3. Department of Neurosurgery, Khoo Teck Puat Hospital, Alexandra Health Private Limited, National University Health System, 90 Yishun Central, Singapore 768828, Singapore;4. Neurosurgery Service, Ng Teng Fong General Hospital, Jurong Health Campus, National University Health System, 1 Jurong East Street 21, Singapore 609606, Singapore;5. Department of Neurosurgery, Addenbrooke’s Hospital, University of Cambridge, Hills Rd, Cambridge CB2 0QQ, United Kingdom;1. Department of Neurosurgery, China National Clinical Research Center for Neurological Diseases (NCRC-ND), Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing Key Laboratory of Brian Tumor, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, PR China;2. Department of Critical Care Medicine, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, PR China |
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| Abstract: | IntroductionThe differential diagnoses for multifocal lesions with pineal and suprasellar involvement in a young adult include germ cell tumour and intracranial metastasis. Other differentials include atypical teratoid/rhabdoid tumour and pineoblastoma. We present the first known case of multicentric H3K27M mutant diffuse midline glioma, which is typically defined by its diffuse nature, midline location, and H3K27M mutation.Case reportA young Chinese female presented subacutely with giddiness, right abducens nerve palsy and unsteady gait. Magnetic resonance imaging (MRI) of the brain with contrast revealed a moderately sized pineal region tumour, extending into the third ventricle, associated with hydrocephalus. There were two other synchronous lesions noted in the suprasellar and left occipital region. Serum and cerebrospinal fluid tumour markers, along with a computed tomography scan of her thorax and abdomen and were unremarkable. She underwent an endoscopic third ventriculostomy and biopsy of pineal and suprasellar lesions. Histology demonstrated a poor prognosis variant multifocal glioblastoma multiforme that was IDH wildtype, H3K27M positive, and MGMT unmethylated. MRI of the whole spine did not reveal any drop metastasis. The patient subsequently underwent adjuvant chemotherapy and radiotherapy after she was deemed to be unsuitable for surgical resection.ConclusionAlthough rare, multicentric H3K27M mutant diffuse midline glioma should be included in the list of differential diagnoses for multifocal enhancing lesions with involvement of the pineal and suprasellar regions, especially if the lesions demonstrate imaging features atypical for more common diagnosis such as germ cell tumours. |
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| Keywords: | Synchronous glioma H3K27M mutant Diffuse midline glioma |
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