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Case series of diffuse extraneural metastasis in H3F3A mutant high-grade gliomas: Clinical,molecular phenotype and literature review
Institution:1. Department of Pediatrics Patient Care, The University of Texas MD Anderson Cancer Center, Houston, TX, USA;2. Department of Neurology and Rehabilitation, University of Illinois at Chicago, Chicago, IL, USA;3. Department of Neuro-oncology, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA;4. Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA;5. Department of Pathology, University of Illinois at Chicago, Chicago, IL, USA;6. Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA;7. Department of Radiation Oncology, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA;8. Department of Neurosurgery, University of Illinois at Chicago, Chicago, IL, USA;9. Northwestern Medicine Chicago Proton Center, Warrenville, IL, USA;10. Department of Neurosurgery, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA;11. Department of Hematology-Oncology, Mayo Clinic, Rochester, MN;1. Department of Neurosurgery, Edogawa Hospital, Tokyo, Japan;2. Department of Otorhinolaryngology, Toho University Sakura Medical Center, Chiba, Japan;3. Department of Orthpedics, Edogawa Hospital, Tokyo, Japan;1. Department of Neurological Surgery Northwestern University, Feinberg School of Medicine, Chicago, IL, USA;2. Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA;1. Department of Neurological Surgery, University of Texas Southwestern Medical Center, Dallas, Texas, USA;2. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA;3. Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas, USA;4. Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, Texas, USA;5. Department of Pathology, St. Jude Children''s Research Hospital, Memphis, Tennessee, USA;1. Department of Neurosurgery, Beijing Jingmei Group General Hospital, Beijing 102300, PR China;2. Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tian Tan Hospital, Capital Medical University, Beijing 100070, PR China;3. Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Centre for Neurological Diseases, Beijing 100070, PR China;4. Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tian Tan Hospital, Capital Medical University, Beijing 100070, PR China
Abstract:H3K27M and H3.3G34R/V mutations have been identified in pediatric high-grade gliomas (pHGG), though extraneural metastases are rarely reported and poorly characterized. Three pHGG patients from two institutions were identified with extraneural metastasis, harboring histone mutations. Their clinical, imaging and molecular characteristics are reported here. A 17-year old female presented with supratentorial H3.3G34R-mutant glioma with metastatic osseous lesions in the spine, pelvis, bone marrow, pleural effusion and soft tissue of pelvis. Bone marrow biopsy and soft tissue of pelvis biopsy showed neoplastic cells positive for P53. A 20-year old female was diagnosed with H3F3A H3K27Mmutant thalamic glioma. She developed diffuse sclerotic osseous lesions. Biopsy of an osseous lesion was non-diagnostic. A 17-year old female presented with a H3F3A H3K27M-mutant diffuse midline glioma with diffuse spinal cord metastasis. She further developed multifocal chest lymphadenopathy, pleural effusions, and a soft tissue mass in the abdominal wall. The latter was positive for H3K27M mutation. We present the first case series of pHGG with H3F3A mutation and diffuse extraneural dissemination, describing their clinical and molecular profile.
Keywords:High-grade glioma  Mutation profile  H3K27M  H3  3G34R/V  Metastasis  Extraneural disease
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