scholarly journals BT-1 An autopsy case of multicentric malignant glioma, H3K27M mutant

2021 ◽  
Vol 3 (Supplement_6) ◽  
pp. vi27-vi27
Author(s):  
Nobuhide Hayashi ◽  
Hiroki Enomoto ◽  
Kenji Kubo ◽  
Yuta Nakanishi ◽  
Kenji Ishii ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Cauda Equina ◽  
Genetic Diagnosis ◽  
Neurological Symptoms ◽  
World Health ◽  
Apical Region ◽  
Initial Visit ◽  
Who Grade ◽  
Multiple Lesions ◽  
Diffuse Midline Glioma

Abstract Introduction: In 2016, the World Health Organization (WHO) defined diffuse midline glioma, H3K27M mutant (WHO Grade 4) as a tumor with K27M mutation in histone H3.3 (H3F3A) or H3.1 (HIST1H3B/C) that develops mainly in the midline regions of the central nervous system. Here, we report a rare case of the abovementioned disease with remote multiple lesions in addition to the midline regions that was diagnosed on the initial visit. Case: The 52-year-old man, suffered from dysarthria, dysphagia, gait disturbance, and headache that gradually worsened over several months. Non-contrast-enhanced lesions were noted in the pons(swelling and involvement of the basilar artery trunk), cerebellum, thalamus, fornix, periventricular area, hippocampus, medial aspect of bilateral frontal lobes, and distally in the right frontal cortex and apical region of the left temporal lobe. The open biopsy was performed for left cerebellar surface lesion, and the pathological and genetic diagnosis was diffuse midline glioma, H3K27M mutant. Extended focal radiation at 50Gy/25fr and corpus callosal/cerebellar boost at 10Gy/5fr were performed. The lesions were markedly reduced, and neurological symptoms were also alleviated. However, 20 months after the initial visit, neurological symptoms had worsened and cerebrospinal fluid dissemination occurred, after that died at 29 months. An autopsy revealed tumor invasion mainly in the midline regions of the cerebrum and in the cerebellum, brain stem, pituitary gland, entire spinal cord, and cauda equina. Immunostaining of the distally cerebral cortex lesions showed that with a negative result for H3G34V. Discussion/Conclusion: It was suggested that caution is required for primary differential diagnosis may be presented at multiple lesions such as remote cerebral cortex of diffuse midline glioma, H3K27M-mutant.

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 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 Long-Term Clinical Outcome of First Recurrence Skull Base Meningiomas

2019 ◽  
Vol 9 (1) ◽  
pp. 106
Author(s):  
Yuki Kuranari ◽  
Ryota Tamura ◽  
Noboru Tsuda ◽  
Kenzo Kosugi ◽  
Yukina Morimoto ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Skull Base ◽  
Tumor Size ◽  
Removal Rate ◽  
World Health ◽  
Who Grade ◽  
Multiple Lesions ◽  
Grade Ii ◽  
Skull Base Meningiomas

Skull base meningiomas (SBMs) are considered to be less aggressive and have a slower growth rate than non-SBMs. However, SBMs often develop local recurrences after surgical resection. Gross total removal is difficult because SBMs are deep-seated tumors and involve critical neurovascular structures. The treatment strategy for recurrent SBMs remains controversial. The present study aimed to evaluate the long-term clinical course and prognostic factors associated with shorter progression-free survival (PFS) of recurrent SBMs. This retrospective study included 85 recurrent SBMs from 65 patients who underwent surgery from January 2005 to September 2018. Overall survival (OS) and PFS were evaluated, and the associations among shorter PFS and age, sex, tumor size, lesions, World Health Organization (WHO) grading, removal rate, and time since prior surgery were analyzed. The median follow-up period for PFS was 68 months. The 2-, 5-, and 10-year PFS rates were 68.0%, 52.8%, and 22.7%, respectively. WHO grade II or III, multiple lesions, and tumor size were significantly associated with shorter PFS (p < 0.0001, p = 0.030, and p = 0.173, respectively). Although, radiotherapy did not improve PFS and OS for overall patients, PFS of the patients with subtotal and partial removal for WHO grade II SBMs was significantly improved by the radiotherapy. Multivariate analysis identified WHO grade II or III and multiple lesions as independent prognostic factors for shorter PFS (p < 0.0001 and p = 0.040, respectively). It is essential to estimate the risks associated with shorter PFS for patients with recurrent SBMs to aid in the development of appropriate postoperative strategies.

Analysis of efficiency of application of media with hyaluronic acid in cryoprotocols

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (2) ◽  
pp. 26-29
Author(s):  
Natalia V. Protopopova ◽  
Elena B. Druzhinina ◽  
Kseniia V. Krylova ◽  
Iuliia V. Mylnikova ◽  
Jan A. Dvoryanov ◽  
...  
Keyword(s):  
Hyaluronic Acid ◽  
Pregnancy Rate ◽  
Embryo Transfer ◽  
Culture Medium ◽  
Genetic Diagnosis ◽  
World Health ◽  
Practical Significance ◽  
Pelvic Surgery ◽  
High Concentration ◽  
Tubal Infertility

According to the World Health Organization, about 2 million new couples experience infertility annually, and their number is growing. An effective way to overcome infertility is assisted reproductive technology (ART). Cryopreservation will rationally solve the issue of preservation and further use of embryos: to delay pregnancy for some time considering womans desire and to prevent ovarian hyperstimulation syndrome. Embryo freezing allows to reduce the rate of repeated ovarian stimulation and perform preimplantation genetic diagnosis. Over the past decades, various cryotransfer options have been proposed to increase ART treatment efficacy, including the use of a culture medium with a high concentration of hyaluronic acid, but there are conflicting data on the use of such a medium in ART programs. Aim. Evaluation of thawed embryo transfers efficacy using the hyaluronic acid-containing culture medium. To achieve the goal, the following tasks were set: to evaluate clinical and medical history data of patients with tubal infertility in cryoprotocols, to analyze the previous cycle of in vitro fertilization and embryological stage, to evaluate the effectiveness of the culture medium with a high content of hyaluronic acid. Materials and methods. A detailed description of the patient sample, inclusion and exclusion criteria, embryological stage, embryo grading, devitrified embryo transfer technique. The article includes 3 tables which present the groups general clinical characteristics, the embryological stage, the rate of pregnancy, depending on the cultivation day. Results. The authors established that in patients with a history of pelvic surgery and sexually transmitted infections, it is advisable to use the culture medium with a high content of hyaluronic acid to transfer the thawed embryo. It was shown that pregnancy rate is 1.5 times higher when transferring devitrified embryos on the 5th day of development with the use of hyaluronic acid-containing culture medium. The conclusion about the pregnancy rate in obese patients is not indisputable, which requires further study. The authors also provide practical recommendations on the use of the culture medium with hyaluronic acid in cryoprotocols. Conclusion. The study allows to optimize the devitrified embryo transfer in patients with tubal infertility using a culture medium with a high content of hyaluronan. This work has undoubted scientific and practical significance.

scholarly journals Role of Extradural Clinoidectomy and Optic Unroofing in Resection of an Anterior Clinoidal Meningioma with Encasement of the Internal Carotid Artery and Its Branches

2021 ◽  
Author(s):  
Sima Sayyahmelli ◽  
Zhaoliang Sun ◽  
Emel Avci ◽  
Mustafa K. Başkaya
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Skull Base ◽  
Vision Loss ◽  
Internal Carotid ◽  
Extent Of Resection ◽  
World Health ◽  
Who Grade ◽  
The Right ◽  
Supraclinoid Internal Carotid Artery

AbstractAnterior clinoidal meningiomas (ACMs) remain a major neurosurgical challenge. The skull base techniques, including extradural clinoidectomy and optic unroofing performed at the early stage of surgery, provide advantages for improving the extent of resection, and thereby enhancing overall outcome, and particularly visual function. Additionally, when the anterior clinoidal meningiomas encase neurovascular structures, particularly the supraclinoid internal carotid artery and its branches, this further increases morbidity and decreases the extent of resection. Although it might be possible to remove the tumor from the artery wall despite complete encasement or narrowing, the decision of whether the tumor can be safely separated from the arterial wall ultimately must be made intraoperatively.The patient is a 75-year-old woman with right-sided progressive vision loss. In the neurological examination, she only had light perception in the right eye without any visual acuity or peripheral loss in the left eye. MRI showed a homogeneously enhancing right-sided anterior clinoidal mass with encasing and narrowing of the supraclinoid internal carotid artery (ICA). Computed tomography (CT) angiography showed a mild narrowing of the right supraclinoid ICA with associated a 360-degree encasement. The decision was made to proceed using a pterional approach with extradural anterior clinoidectomy and optic unroofing. The surgery and postoperative course were uneventful. MRI confirmed gross total resection (Figs. 1 and 2). The histopathology was a meningothelial meningioma, World Health Organization (WHO) grade I. The patient continues to do well without any recurrence and has shown improved vision at 15-month follow-up.This video demonstrates important steps of the microsurgical skull base techniques for resection of these challenging tumors.The link to the video can be found at https://youtu.be/vt3o1c2o8Z0

scholarly journals Transcavernous Approach for Gross Total Resection of a Dumbbell-Shaped Giant Trigeminal Schwannoma

2021 ◽  
Author(s):  
Sima Sayyahmelli ◽  
Emel Avci ◽  
Burak Ozaydin ◽  
Mustafa K. Başkaya
Keyword(s):  
Skull Base ◽  
Cavernous Sinus ◽  
Tumor Resection ◽  
Mass Effect ◽  
World Health ◽  
Gross Total Resection ◽  
Petrous Apex ◽  
Total Resection ◽  
Who Grade ◽  
Trigeminal Schwannoma

AbstractTrigeminal schwannomas are rare nerve sheet tumors that represent the second most common intracranial site of occurrence after vestibular nerve origins. Microsurgical resection of giant dumbbell-shaped trigeminal schwannomas often requires complex skull base approaches. The extradural transcavernous approach is effective for the resection of these giant tumors involving the cavernous sinus.The patient is a 72-year-old man with headache, dizziness, imbalance, and cognitive decline. Neurological examination revealed left-sided sixth nerve palsy, a diminished corneal reflex, and wasting of temporalis muscle. Magnetic resonance imaging (MRI) showed a giant homogeneously enhancing dumbbell-shaped extra-axial mass centered within the left cavernous sinus, Meckel's cave, and the petrous apex, with extension to the cerebellopontine angle. There was a significant mass effect on the brain stem causing hydrocephalus. Computed tomography (CT) scan showed erosion of the petrous apex resulting in partial anterior autopetrosectomy (Figs. 1 and 2).The decision was made to proceed with tumor resection using a transcavernous approach. Gross total resection was achieved. The surgery and postoperative course were uneventful, and the patient woke up the same as in the preoperative period. MRI confirmed gross total resection of the tumor. The histopathology was a trigeminal schwannoma, World Health Organization (WHO) grade I. The patient continues to do well without any recurrence at 15-month follow-up.This video demonstrates important steps of the microsurgical skull base techniques for resection of these challenging tumors.The link to the video can be found at https://youtu.be/TMK5363836M

scholarly journals CTNI-20. PCV CHEMOTHERAPY ALONE IS ASSOCIATED WITH BETTER CLINICAL COURSE IN OLIGODENDROGLIOMA WHO GRADE II

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii46-ii46
Author(s):  
Jonathan Weller ◽  
Sophie Katzendobler ◽  
Philipp Karschnia ◽  
Stefanie Lietke ◽  
Rupert Egensperger ◽  
...  
Keyword(s):  
Stereotactic Biopsy ◽  
Tumor Volume ◽  
Treatment Guidelines ◽  
Tumor Resection ◽  
World Health ◽  
Incomplete Resection ◽  
Watch And Wait ◽  
Who Grade ◽  
Long Term Outcome ◽  
Pcv Chemotherapy

Abstract BACKGROUND Current treatment guidelines for oligodendrogliomas (OD) recommend watch-and-wait strategies after gross total resection and radiation with subsequent chemotherapy (procarbazine, CCNU and vincristine (PCV)) after incomplete resection. The value of chemotherapy alone as an option to delay the risk of late cognitive deficits is not well defined yet. Here, we retrospectively investigated long-term outcome in OD WHO II with respect to initial therapy and tumor volume in magnetic resonance imaging (MRI). METHODS A total of 142 patients with OD WHO (World Health Organization) II according to WHO 2016 were retrospectively included. Patients either had watch and wait (W&W) after histological sampling through stereotactic biopsy (n=59) or tumor resection (n=27) or else stereotactic biopsy with subsequent temozolomide (TMZ) (n=26) or PCV (n=30). Pre- and post-therapeutic T2 tumor volumes were obtained. Progression-free survival (PFS), post-recurrence PFS (PR-PFS) and rate of secondary malignization after 10 years (MR-10yrs) were correlated with clinical and volumetric data. RESULTS PFS was significantly longer in the PCV cohort compared to TMZ (9.1 vs. 3.6 years, p = 0.04), even after matching patients according to age and initial tumor volume (9.1 vs 4.7 yrs, p = 0.03). PFS in the W&W cohort was 5.1 years and 4.4 years in those receiving tumor resection only. MR-10yrs was 4% in PCV cohort, 18% in the W&W cohort and 52% in the resection only cohort (p = 0.01). In the W&W cohort, patients treated with PCV at first relapse had a longer PR-PFS than those treated with TMZ (in years, 7.2 vs 4.0, p = 0.04). Multivariate analysis confirmed initial PCV therapy (p = 0.01) and initial T2 tumor volume (p = 0.02) to be prognostic. CONCLUSION In oligodendrogliomas WHO II PCV chemotherapy alone is superior in terms of PFS and rate of secondary malignization compared to TMZ chemotherapy alone or tumor resection only.

scholarly journals Recurrent Sphenocavernous Meningioma

2021 ◽  
Author(s):  
Mizuho Inoue ◽  
Mohamed Labib ◽  
Alexander Yang ◽  
A. Samy Youssef
Keyword(s):  
Tumor Resection ◽  
Intensity Modulated Radiotherapy ◽  
Residual Tumor ◽  
World Health ◽  
Neurological Deficits ◽  
Falciform Ligament ◽  
Total Resection ◽  
Anterior Clinoid Process ◽  
Who Grade ◽  
Health Organization

AbstractA case of a recurrent sphenocavernous meningioma is presented. The patient is a 42-year-old male who presented with an episode of transient right-sided numbness. A magnetic resonance imaging (MRI) revealed a large left sphenocavernous meningioma. The patient underwent a frontotemporal craniotomy for tumor resection. Near total resection was achieved with minimal residual in the left cavernous sinus (CS) and orbital apex. The pathology was consistent with meningioma, World Health Organization (WHO) grade I. A follow-up MRI was done 9 months after surgery and showed a growth of the residual tumor, which was treated with intensity modulated radiotherapy. Tumor growth was detected on serial imaging over a 4-year period. Surgical resection was offered. A left frontotemporal craniotomy with pretemporal transcavernous approach was performed. The bone flap was reopened and the dura was opened in a Y-shaped fashion. The roof of the optic canal was drilled off, and the falciform ligament was opened to decompress the optic nerve. The tumor was disconnected from the anterior clinoid region (the anterior clinoid process was eroded by the tumor) and reflected off the wall of the lateral CS. Tumor was adherent to the V2 fascicles (the lateral CS wall was resected in the first surgery) and was sharply dissected off. Gross total resection was achieved. The pathology was consistent with meningioma, WHO grade I. The patient had an unremarkable postoperative course without any new neurological deficits.The link to the video can be found at: https://youtu.be/KVBVw_86JqM.

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