Possible Association of Trichorhinophalangeal Syndrome I and Intracranial Subependymoma. Trichorhinophalangeal syndromes (TRPSs) are rare hereditary syndromes with autosomal dominant inheritance. Patients exhibit abnormalities including bulbous pear-shaped nose, broad columella, and long and flat philtrum, fine, sparse, brittle, slow-growing scalp hair, skeletal abnormalities, and short stature . Three families; age at subependymoma surgery, pathogenic TRPS1(NM_014112.5) variant, and subependymoma number are described.
Clinical independent prognostic factors and overall survival prognostic nomogram for intracranial subependymoma: A SEER population-based analysis 2004-2016. This study was launched to ascertain the independent prognostic factors influencing the overall survival (OS) prognosis of intracranial subependymoma and construct a prognostic model to predict OS time. We collected data from patients with intracranial subependymoma, including treatment data, follow-up data, and clinical and pathological characteristics from the SEER database within 2004 to 2016, and patients were randomly classified into training and validation cohorts. Univariate and multivariate analyses were applied to the training group through building a Cox proportional hazards model. According to the results of multivariate analysis
Clinical features and surgical outcomes of intracranial and spinal cord subependymomas. Subependymomas are low-grade ependymal tumors whose clinical characteristics, radiographic features, and postsurgical outcomes are incompletely characterized due to their rarity. The authors present an institutional case series and a systematic literature review to achieve a better understanding of subependymomas. Adult patients with histologically confirmed subependymoma or mixed subependymoma-ependymoma surgically treated at a tertiary hospital between 1992 and 2020 were identified. A systematic literature review of the PubMed, Embase, Web of Science, and Google Scholar databases from inception until December 4, 2020, was conducted according to PRISMA guidelines. Data extracted from both groups
TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma. Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group "subependymoma, posterior fossa" (PFSE) of the recently established DNA methylation-based classification of central nervous system tumors. In contrast, most posterior fossa ependymomas exhibit a more aggressive biological behavior and are allocated to the molecular subgroups PFA or PFB. A subset of ependymomas shows epigenetic similarities with subependymomas, but the precise biology of these tumors and their potential relationships remain unknown. We therefore set out to characterize epigenetic
Surgical management and long-term outcome of intracranial subependymoma Intracranial subependymomas account for 0.2-0.7% of central nervous system tumours and are classified as World Health Organization (WHO) grade 1 tumours. They are typically located within the ventricular system and are detected incidentally or with symptoms of hydrocephalus. Due to paucity of studies exploring this tumour type, the objective was to determine the medium- to long-term outcome of intracranial subependymoma treated by surgical resection. Retrospective case note review of adults with intracranial WHO grade 1 subependymoma diagnosed between 1990 and 2015 at the Walton Centre NHS Foundation Trust was undertaken. Tumour location, extent of resection (defined as gross total resection (GTR), sub-total resection
Spinal Cord Subependymoma Surgery : A Multi-Institutional Experience A spinal cord subependymoma is an uncommon, indolent, benign spinal cord tumor. It is radiologically similar to a spinal cord ependymoma, but surgical findings and outcomes differ. Gross total resection of the tumor is not always feasible. The present study was done to determine the clinical, radiological and pathological characteristics of spinal cord subependymomas. We retrospectively reviewed the medical records of ten spinal cord subependymoma patients (M : F=4 : 6; median 38 years; range, 21-77) from four institutions. The most common symptoms were sensory changes and/or pain in eight patients, followed by motor weakness in six. The median duration of symptoms was 9.5 months. Preoperative radiological diagnosis
Apoplexy of a collision tumour composed of subependymoma and cavernous-like malformation in the lateral ventricle: a case report. Subependymomas are rare benign tumours arising from subependymal glial precursors that usually remain asymptomatic or may present due to obstruction of cerebrospinal fluid pathways. We describe the first report of intraventricular haemorrhage from subependymoma
Bamboo Leaf Sign as a Sensitive Magnetic Resonance Imaging Finding in Spinal Subependymoma: Case Report and Literature Review . Subependymoma occurs very rarely in the spinal cord. We report another case of spinal subependymoma along with a review of the literature and discussion of a radiological finding that is useful for preoperative diagnosis of this tumor. . A 51-year-old man presented with a 2-year history of progressive muscle weakness in the right lower extremity. Sagittal magnetic resonance imaging (MRI) showed spinal cord expansion at the Th7-12 vertebral level. Surgical resection was performed and the tumor was found to involve predominantly subpial growth. Histological diagnosis was subependymoma, classified as Grade I according to criteria of World Health Organization. We made
MR Spectroscopy to Distinguish between Supratentorial Intraventricular Subependymoma and Central Neurocytoma The purpose of this study was to discriminate supratentorial intraventricular subependymoma (SIS) from central neurocytoma (CNC) using magnetic resonance spectroscopy (MRS). Single-voxel proton MRS using a 1.5T or 3T MR scanner from five SISs, five CNCs, and normal controls were evaluated
Subependymoma with extensive microcystic transformation: a case report Subependymomas are benign tumors that occur predominantly in the ventricular system. We described a case of a 44-year-old female with a large subtentorial mass which compressed the brain stem and fourth ventricle. Complete surgical excision of the tumor was achieved. The tumor composed of collections of cytologically bland
Water Channels Aquaporin 4 and -1 Expression in Subependymoma Depends on the Localization of the Tumors We analyzed aquaporin 4 and -1 expression in subependymomas, benign and slow growing brain tumors WHO grade I. Ten subependymoma cases were investigated, five of the fossa inferior and five of the fossa superior. Using immunohistochemistry, we observed different aquaporin expression patterns depending on localization: aquaporin 4 and -1 were detected in infratentorial subependymomas in the entire tumor tissue. In contrast, supratentorial subependymomas revealed aquaporin 4 and -1 expression only in border areas of the tumor. PCR analyses however showed no difference in aquaporin 4 expression between all subependymomas independent of localization but at higher levels than in normal brain
Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background. In this paper, a rare case of subependymoma of the fourth ventricle in identical female twins is reported. Magnetic resonance imaging and CT showed nearly identical locations of the tumors in the fourth ventricle and similar growth patterns of the tumors in both sisters. Likewise, postoperative histopathological analysis of both tumors revealed the typical histological appearance of subependymomas. Subependymoma is a rare, low-grade glioma of the CNS, slowly growing and usually asymptomatic. If symptomatic, a subependymoma can in some cases lead to sudden death caused by pressure on the brainstem or decompensated secondary hydrocephalus. This case demonstrates
Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma. Intracranial subependymomas are rarely reported due to their extremely low incidence. Knowledge about subependymomas is therefore poor. This study aimed to analyze the incidence and clinical, radiological, and pathological features of intracranial subependymomas. Approximately 60,000 intracranial tumors were surgically treated at Beijing Tiantan Hospital between 2003 and 2013. The authors identified all cases in which patients underwent resection of an intracranial tumor that was found to be pathological examination demonstrated to be subependymoma and analyzed the data from these cases. Forty-three cases of pathologically confirmed, surgically treated intracranial subependymoma were identified
Infratentorial and Intraparenchymal Subependymoma in the Cerebellum: Case Report Subependymomas are rare benign tumors located in the ventricular system. Intraparenchymal subependymoma is extremely rare; only 6 cases have been reported, and all were located in the supratentorial region. We describe a case of infratentorial, intraparenchymal subependymoma in a 28-year-old man with intermittent headache. Imaging revealed a well-demarcated cystic and solid cerebellar mass near the fourth ventricle. The mass had a microcystic component and calcification without contrast enhancement. Complete surgical excision was performed, and histopathology confirmed a subependymoma.
Interesting Case of Subependymoma of the Spinal Cord. Subependymomas are rare, slow-growing, and usually noninvasive/nonaggressive World Health Organization Grade I tumors that tend to occur in the ventricles. Their most common site of occurrence is the fourth ventricle followed by the lateral ventricles. Spinal cord subependymomas typically manifest as cervical and cervicothoracic intramedullary or, rarely, extramedullary mass lesions. They often present clinically with pain and neurologic symptoms, including motor, sensory, urinary, and sexual dysfunction. Histologically, there are hypocellular areas with occasional clusters of cells and frequent microcystic changes, calcifications, and hemorrhage. Radiologically, subependymomas generally manifest as eccentric well circumscribed
A case of septum pellucidum subependymoma with a subtle imaging appearance simulating a cavum septum pellucidum Subependymoma is a rare benign slowly growing tumor which usually appears as a well-defined lobulated entirely intraventricular mass, in the fourth or lateral ventricles. We report a case of subependymoma involving the septum pellucidum in a 28 year old female demonstrating a subtle