scholarly journals Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

2021 ◽  
Vol 8 ◽  
Author(s):  
Ran Cheng ◽  
Da-Peng Li ◽  
Nan Zhang ◽  
Ji-Yin Zhang ◽  
Di Zhang ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Neck Pain ◽  
Pediatric Patient ◽  
Histopathological Examination ◽  
Histone H3 ◽  
World Health ◽  
Who Grade ◽  
K27m Mutation ◽  
History Of ◽  
Diffuse Midline Glioma

Background: Diffuse midline glioma (DMG) with histone H3 K27M mutation is a recently identified entity documented in the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System. Spinal cord DMGs with H3 K27M-mutant are commonly reported in adults. Herein, we reported a pediatric patient with spinal cord H3 K27M-mutant DMG.Case Report: A 7-year-old girl with 1-month history of neck pain and 3-week history of progressive weakness in the right hand was presented. Spinal magnetic resonance imaging showed an intramedullary lesion with slight enhancement at the C2-7 levels. With intraoperative neuroelectrophysiological monitoring, the lesion was subtotally resected. Histopathological examination revealed a DMG with histone H3 K27M mutation corresponding to WHO grade IV. Postoperatively, the neck pain was relieved, and the upper-extremity weakness remained unchanged. Oral temozolomide was administrated for 7 months, and radiotherapy was performed for 22 courses. After an 18-month follow-up, no tumor recurrence was noted.Conclusion: Spinal cord H3 K27M-mutant DMGs are extremely rare in pediatric patients. Preoperative differential diagnosis is challenging, and surgical resection with postoperative chemoradiotherapy may be an effective treatment.

scholarly journals Spinal Cord Diffuse Midline Glioma in a 4-Year-Old Boy

2019 ◽  
Vol 6 ◽  
pp. 2329048X1984245 ◽  
Author(s):  
Ashutosh Kumar ◽  
Salman Rashid ◽  
Sumit Singh ◽  
Rong Li ◽  
Leon S. Dure
Keyword(s):  
Spinal Cord ◽  
Cerebrospinal Fluid ◽  
World Health ◽  
Thoracic Spinal Cord ◽  
Lower Extremity Weakness ◽  
Thoracic Spinal ◽  
History Of ◽  
Health Organization ◽  
Cerebrospinal Fluid Pleocytosis ◽  
Diffuse Midline Glioma

Objective: We report a child presenting with spinal myelopathy secondary to H3K27M mutant diffuse midline glioma. Case Report: A 4-year-old boy presented with a 3-week history of progressive gait difficulty. Examination revealed bilateral hand and lower extremity weakness, left leg hypertonia with ankle clonus, and a right hemisensory deficit. Magnetic resonance imaging of neuroaxis showed cervical and thoracic spinal cord with expansion and irregular areas of enhancement. Serum and cerebrospinal fluid studies were unremarkable for infectious, autoimmune, inflammatory, and neoplastic causes but showed mild cerebrospinal fluid pleocytosis, hypoglycorrhachia, and high protein level. A thoracic cord biopsy revealed a diffuse midline glioma (World Health Organization grade IV). Consequently, the tumor involved intracranial structures and patient died within 4 months after diagnosis. Conclusion: High-grade spinal cord gliomas are very rare but should be considered in the differential diagnosis of pediatric myelopathy. Tissue biopsy is recommended in indeterminate cases to facilitate diagnosis and to guide management.

scholarly journals Diffuse midline glioma with H3 K27M-mutation in an 83-year-old woman

CNS Oncology ◽  
2021 ◽  
pp. CNS71
Author(s):  
Justin Thomas Low ◽  
Shih-Hsiu Wang ◽  
Katherine B Peters
Keyword(s):  
Older Adults ◽  
Poor Prognosis ◽  
Unusual Case ◽  
Histone H3 ◽  
Who Grade ◽  
K27m Mutation ◽  
Clinical Literature ◽  
Children And Young Adults ◽  
H3 K27m Mutations ◽  
Diffuse Midline Glioma

Diffuse midline gliomas harboring histone H3 K27M mutations are most commonly found in the brainstem of children. This mutation confers a WHO grade IV designation and is associated with a particularly poor prognosis. Although traditionally considered to be a disease of children and young adults, a number of recent reports have described H3 K27M mutations in older adults with diffuse midline gliomas. Here, we present the unusual case of a diffuse midline glioma in the pons and cerebellum of an 83-year-old woman and review the evolving clinical literature on this entity in adults. This case underscores that it may occur even in older adults, in whom prognostic and treatment paradigms used in pediatrics may not be directly applicable.

scholarly journals Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma—A Diagnostic Dilemma for the Pathologist

2021 ◽  
Author(s):  
Deepti Narasimhaiah ◽  
Bejoy Thomas ◽  
Mathew Abraham ◽  
Rajalakshmi Poyuran
Keyword(s):  
Tumor Tissue ◽  
World Health ◽  
Mutant Protein ◽  
Histone Genes ◽  
Mosaic Pattern ◽  
Diagnostic Dilemma ◽  
Who Grade ◽  
Therapeutic Implications ◽  
Health Organization ◽  
Diffuse Midline Glioma

AbstractDiffuse midline glioma, H3 K27M-mutant, is a World Health Organization (WHO) grade IV glioma arising in pons, thalamus, and spinal cord. They show mutations resulting in replacement of lysine at position 27 by methionine (K27M) of histone genes, H3F3A, HIST1H3B, and HIST1H3C. The H3 K27M mutant protein is identified in tumor tissue by immunohistochemistry. As these mutations are clonal and homogeneous, the mutant protein is normally identified in all tumor cells. Here we report a case of diffuse midline glioma with mosaic pattern of expression of H3 K27M mutant protein and discuss the diagnostic and therapeutic implications of this unusual pattern.

scholarly journals Extended Cranial Ultrasound Views in Infants with Acute Brain Stem/Infratentorial Lesions: Diagnosis of a Progressive Midline Glioma in a 6-Week-Old Infant

2021 ◽  
Vol 11 (01) ◽  
pp. e262-e264
Author(s):  
Matthias Lange ◽  
Bernd Mitzlaff ◽  
Florian Beske ◽  
Holger Koester ◽  
Wiebke Aumann ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
World Health ◽  
Cranial Ultrasound ◽  
Anterior Fontanel ◽  
Resonance Imaging ◽  
Who Grade ◽  
Magnetic Resonance Imaging Mri ◽  
Health Organization ◽  
Mastoid Fontanelle ◽  
Diffuse Midline Glioma

AbstractCentral nervous system (CNS) tumors are the most common solid tumors in children and adolescents. However, in neonates and children aged younger than a year, they are very rare. Clinical presentation in neonates is often subtle and nonspecific. When neurological symptoms are apparent at this age, cranial ultrasound (CUS) is often done as the initial evaluation, with a standard approach through the anterior fontanel (AF), followed by further imaging, such as magnetic resonance imaging (MRI), if necessary. We report the first neonatal case of a rapidly progressive diffuse midline glioma positive for histone H3 K27M mutation (World Health Organization [WHO] grade IV) in which using extended (transmastoid) CUS studies through the mastoid fontanelle (MF) in the second month of life defined the lesion in the brainstem.

scholarly journals Falx Cerebelli Meningioma: Case Report of a Rarely Occurring Tumor, Management Nuances, and Literature Review

2021 ◽  
Vol 82 (03) ◽  
pp. e32-e35
Author(s):  
Elizabeth Gallo ◽  
Grzegorz Brzezicki ◽  
Raafat Makary ◽  
Gazanfar Rahmathulla ◽  
Dinesh Rao ◽  
...  
Keyword(s):  
Cerebrospinal Fluid Leak ◽  
Collagen Matrix ◽  
World Health ◽  
Who Grade ◽  
Lumbar Drain ◽  
History Of ◽  
Tumor Management ◽  
Health Organization ◽  
Midline Approach ◽  
Fluid Leak

AbstractThe falx cerebelli is a small crescent fold of dura mater that is attached to the internal occipital crest and projects forward into the posterior cerebellar notch between the cerebellar hemispheres. We report a rare case of a 61-year-old female who presented with a 1-month history of headache and gait instability. Imaging findings were suggestive of a meningioma arising from the falx cerebelli. Complete surgical resection was achieved with a standard posterior fossa midline approach. Duraplasty was performed using animal allograft dura (Duraguard) and additional layers of oxidized cellulose preparation (Surgicel), fibrin sealant, and nonsuturable collagen matrix (Duragen) were utilized to reduce the risk of a cerebrospinal fluid leak. Pathology confirmed a World Health Organization (WHO) grade-I meningioma. Postoperatively, patient with asymptomatic thrombosis of the left transverse/sigmoid sinuses and later with a pseudomeningocele managed with a lumbar drain. To our knowledge, this is the second documented case in the literature. We discuss intraoperative nuances and unique aspects in the postoperative care and management of these patients.

scholarly journals Retrosigmoid Approach for Resection of Cerebellopontine Angle Meningioma

2018 ◽  
Vol 79 (S 05) ◽  
pp. S407-S408
Author(s):  
Hussam Abou-Al-Shaar ◽  
Yair Gozal ◽  
Gmaan Alzhrani ◽  
William Couldwell
Keyword(s):  
Cerebellopontine Angle ◽  
Histopathological Examination ◽  
World Health ◽  
Who Grade ◽  
Inferior Surface ◽  
Postoperative Mri ◽  
Brainstem Compression ◽  
Patient Reported ◽  
Facial Numbness ◽  
Health Organization

This video depicts the case of an 81-year-old man who presented with a 3-month history of left-sided facial numbness and gait imbalance. On examination, he had gait ataxia and decreased left facial sensation in the V2 and V3 distribution. Magnetic resonance imaging (MRI) revealed a large homogenously enhancing lesion arising from the inferior surface of the tentorium toward the left cerebellopontine angle causing significant brainstem compression (Fig. 1A and 1B). The differential diagnoses for this lesion included meningioma and trigeminal nerve schwannoma. Given the patient's symptoms, the size of the lesion, and the severity of brainstem compression, surgical resection was recommended. The patient underwent a left retrosigmoid craniotomy for resection of the mass (Fig. 2). The patient tolerated the procedure well with no new postoperative neurological deficit. Histopathological examination of the lesion revealed a World Health Organization (WHO) grade I meningioma. Postoperative MRI was consistent with gross total resection of the tumor (Fig. 1C and 1D). The patient was discharged home on postoperative day 4. At his last follow-up appointment, 1 month after surgery, the patient reported complete resolution of his imbalance and left-sided facial numbness. The patient gave consent for publication.The link to the video can be found at: https://youtu.be/xoHmhv7bme4.

scholarly journals Optic Nerve Hemangioblastoma: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Holly Zywicke ◽  
Cheryl Ann Palmer ◽  
Michael S. Vaphiades ◽  
Kristen O. Riley
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Optic Nerve ◽  
Detrimental Effect ◽  
World Health ◽  
Central Nervous System Tumors ◽  
Who Grade ◽  
Nervous System Tumors ◽  
Nerve Sheath ◽  
Health Organization

Hemangioblastomas are World Health Organization (WHO) grade I tumors of uncertain histologic origin. These central nervous system tumors are most often found in the posterior fossa, brainstem, and spinal cord. There are fewer than 20 reported cases of optic nerve hemangioblastomas in the literature. We present a patient with visual decline found to have a mass arising from within the posterior orbital canal that grossly involved the optic nerve sheath. Neuropathologic evaluation showed hemangioblastoma. Although not a common tumor in this location, consideration of hemangioblastoma in the differential diagnosis is important as they can have a more aggressive course than other tumors of this region and have a detrimental effect on visual prognosis.

scholarly journals Fourth Ventricular Schwannoma: Identical Clinicopathologic Features as Schwann Cell-Derived Schwannoma with Unique Etiopathologic Origins

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Tiffany R. Hodges ◽  
Isaac O. Karikari ◽  
Shahid M. Nimjee ◽  
June Tibaleka ◽  
Thomas J. Cummings ◽  
...  
Keyword(s):  
Natural History ◽  
Histopathological Examination ◽  
Resonance Imaging ◽  
Who Grade ◽  
Suboccipital Craniotomy ◽  
Nerve Sheath ◽  
History Of ◽  
Intraventricular Tumors ◽  
Memory Disturbance ◽  
Magnetic Resonance Imaging Mri

Background. To our knowledge, this is the sixth reported case in the literature of fourth ventricular schwannoma. The etiology and natural history of intraventricular schwannomas is not well understood. A thorough review of potential etiopathogenic mechanisms is provided in this case report.Case Description. A 69-year-old man presented with an incidentally found fourth ventricular tumor during an evaluation for generalized weakness, gait instability, and memory disturbance. Magnetic resonance imaging (MRI) revealed a heterogeneously enhancing lesion in the fourth ventricle. A suboccipital craniotomy was performed to resect the lesion. Histopathological examination confirmed the diagnosis of schwannoma (WHO grade I).Conclusions. Schwannomas should be considered in the differential diagnosis of intraventricular tumors. Although the embryologic origins may be different from nerve sheath-derived schwannomas, the histologic, clinical, and natural history appear identical and thus should be managed similarly.

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