Pin He1, Wei Chen2, Xi Xiong Qiu1, Yi Bin Xi3, Hong Guan4, Jun Xia5. 1. Department of Radiology, The First Affiliated Hospital of Shenzhen University, Health Science Center, Shenzhen, China; Shenzhen Second People's Hospital, Shenzhen, China. 2. Department of Radiology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China; Department of Radiology, Pingshan District People's Hospital, Hubei University of Medicine, Shenzhen, Guangdong, China. 3. Department of Radiology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shanxi, China. 4. Department of Pathology, The First Affiliated Hospital of Shenzhen University, Health Science Center, Shenzhen, China; Shenzhen Second People's Hospital, Shenzhen, China. 5. Department of Radiology, The First Affiliated Hospital of Shenzhen University, Health Science Center, Shenzhen, China; Shenzhen Second People's Hospital, Shenzhen, China. Electronic address: xiajun@email.szu.edu.cn.
Abstract
BACKGROUND: Diffuse midline glioma H3 K27M mutant is a new tumor entity described in the revised 2016 World Health Organization classification. It is most frequently observed in children and develops in midline structures, including the brainstem, thalamus, and spine. We describe a rare diffuse midline glioma with an H3 K27M mutation arising in the hypothalamus of an adult. CASE DESCRIPTION: A 27-year-old woman was admitted to our department complaining of amenorrhea, polydipsia, and diuresis for the previous 3 months, and headache and lethargy for approximately 10 days. Computed tomography scan showed an oval isodense solid mass extending from the pituitary toward the suprasellar cistern. A gadolinium-enhanced magnetic resonance imaging (MRI) showed a strongly heterogeneous enhanced solid lesion and nonenhanced cystic lesion. The patient underwent surgery and chemoradiotherapy with temozolomide. Histologic and immunohistochemical analyses revealed H3 K27M-mutant diffuse midline glioma. The patient underwent another resection for a recurrent tumor 5 months after the first surgery. Three months after the second operation, the patient relapsed, with MRI revealing spinal cord and meningeal metastases; she died shortly afterward. CONCLUSIONS: Diffuse midline glioma with an H3 K27M mutation occurring in the hypothalamus of an adult is rare but should be considered in differential diagnoses. Because histone H3 K27M mutations are associated with aggressive clinical behavior and poor prognosis, molecular analyses should be used to determine the clinical and histopathologic features of such tumors. This will contribute to developing targeted drugs and gene therapy going forward.
BACKGROUND: Diffuse midline glioma H3 K27M mutant is a new tumor entity described in the revised 2016 World Health Organization classification. It is most frequently observed in children and develops in midline structures, including the brainstem, thalamus, and spine. We describe a rare diffuse midline glioma with an H3 K27M mutation arising in the hypothalamus of an adult. CASE DESCRIPTION: A 27-year-old woman was admitted to our department complaining of amenorrhea, polydipsia, and diuresis for the previous 3 months, and headache and lethargy for approximately 10 days. Computed tomography scan showed an oval isodense solid mass extending from the pituitary toward the suprasellar cistern. A gadolinium-enhanced magnetic resonance imaging (MRI) showed a strongly heterogeneous enhanced solid lesion and nonenhanced cystic lesion. The patient underwent surgery and chemoradiotherapy with temozolomide. Histologic and immunohistochemical analyses revealed H3 K27M-mutant diffuse midline glioma. The patient underwent another resection for a recurrent tumor 5 months after the first surgery. Three months after the second operation, the patient relapsed, with MRI revealing spinal cord and meningeal metastases; she died shortly afterward. CONCLUSIONS: Diffuse midline glioma with an H3 K27M mutation occurring in the hypothalamus of an adult is rare but should be considered in differential diagnoses. Because histone H3 K27M mutations are associated with aggressive clinical behavior and poor prognosis, molecular analyses should be used to determine the clinical and histopathologic features of such tumors. This will contribute to developing targeted drugs and gene therapy going forward.
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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