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Simple Summary: Rhabdoid meningiomas are a rare subtype of (per definition) grade 3 meningiomas of unknown cause, with a heterogeneous clinical course and higher recurrence rates, even among tumors undergoing complete surgical removal, for whom early postoperative radiotherapy may favor local control of the disease and prolonged survival. Here, we compared the clinical, biological and genetic features (at diagnosis and in sequential tumor recurrences) of recurrent vs. non-recurrent rhabdoid meningiomas in a retrospective series of 15 patients with a long follow-up. Recurrent RM showed a higher genetic instability at diagnosis associated with multiple chromosomal losses involving chromosomes 1p, 14q, 18 and 22. Non-recurrent RM were genetically less complex tumors which more frequently showed extensive losses at chromosome 19p and/or 19q, together with gains of chromosomes 20 and 21. Comparison of paired primary vs. recurrent tumor samples of recurrent RM revealed additional losses of chromosomes 16q and 19p, together with gains of chromosomes 1q and 17q. Of note, focal chromosome gains at 17q22 were exclusively found in women with recurrent RM who died, although survival differences did not reach statistical significance. Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients. [ABSTRACT FROM AUTHOR]

Rhabdoid meningioma is a rare subtype of high-grade meningioma that is especially rare in children. We experienced a case of rhabdoid meningioma in a 15-year-old girl. Magnetic resonance imaging findings of a ring-like irregular enhanced mass in the left frontal lobe were suggestive of an intramedullary tumor. However, intraoperative findings revealed an extramedullary tumor with dural attachment. The tumor was completely excised. One year after surgery, local recurrence occurred, and the patient underwent total resection and postoperative radiotherapy. Eighteen pediatric cases of rhabdoid meningioma have been reported to date. The imaging findings do not show a consistent trend, making diagnosis difficult based on preoperative imaging findings. The need for adjuvant therapy has been suggested even after complete resection. Chemotherapy should be considered for younger children in consideration of late complications of radiation therapy; radiation therapy should be considered for older children. [ABSTRACT FROM AUTHOR]

Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients.

Background: Rhabdoid meningioma and Budd-Chiari syndrome are both extremely rare, and there is no report describing the two diseases occurring in the same patient thus far. Herein, we showed an unusual case of rhabdoid meningioma with a history of Budd-Chiari syndrome. Case presentation: The man was found to have abnormal liver function during physical examination in 2016 at 36 and was not paid attention to it. In 2019, he went to Beijing YouAn Hospital Affiliated to Capital Medical University for the decompensation of cirrhosis and was diagnosed with Budd-Chiari syndrome, subsequent angiography of the inferior vena cava combined with balloon dilatation were performed, the anticoagulation and hepatoprotective therapy were performed for a long time. When he turned 40 who had magnetic resonance imaging (MRI) that showed a left frontotemporal lobe spaceoccupying lesion, and postoperative pathological examination confirmed rhabdoid meningioma. He underwent surgery and postoperative adjuvant radiotherapy, but then he developed severe psychiatric symptoms and eventually succumbed to a lung infection two months after treatment. Conclusions: Budd-Chiari syndrome and Rhabdoid meningiomas are both extremely rare diseases. To the best of our knowledge, there is no report that the two rare diseases occurred in the same patient, and this is the first case. However, whether there is any link between the two diseases is unclear, more researches are needed to confirm it in the future. [ABSTRACT FROM AUTHOR]

Background and Importance: Rhomboid meningioma (RM) is one of the rare and aggressive types of meningioma, typically classified as a central nervous system grade III anaplastic meningioma by WHO. In this report, we present an unusual case of RM. Case Presentation: The patient was a 67-year-old man, living in Kermanshah City, Iran. He came to a neurosurgery clinic with a chief complaint of a huge and unusual mass on his skull. Following the brain computed tomography scan and magnetic resonance imaging, the diagnosis of meningioma was considered. The patient underwent surgical intervention for the excision of the mass. Immunohistochemical findings demonstrated the diagnosis of RM (WHO grade III). Conclusion: RM is a rare and aggressive subtype of meningiomas with a high growth rate and poor prognosis. Early diagnosis and treatment especially in invasive ones can prevent many unpleasant and critical complications; although tumor location has a pivotal role in determining treatment strategy.

Rhabdoid meningiomas (RM) shows heterogeneous histological findings, and a wide variety of chromosomal copy number alterations (CNA) are associated with an unpredictable course of the disease. In this study, we analyzed a series of 305 RM samples from patients previously reported in the literature and 33 samples from 23 patients studied in our laboratory. Monosomy 22-involving the minimal but most common recurrent region loss of the 22q11.23 chromosomal region was the most observed chromosomal alteration, followed by losses of chromosomes 14, 1, 6, and 19, polysomies of chromosomes 17, 1q, and 20, and gains of 13q14.2, 10p13, and 21q21.2 chromosomal regions. Based on their CNA profile, RM could be classified into two genetic subgroups with distinct clinicopathologic features characterized by the presence of (1) chromosomal losses only and (2) combined losses and gains of several chromosomes. The latter displays a higher frequency of WHO grade 3 tumors and poorer clinical outcomes. [ABSTRACT FROM AUTHOR]

Background: Rhabdoid meningiomas (RMs) are a rare type of malignant meningioma. Here, we report a case of intracranial RM presenting with visual disturbance and prominent hyperintensity in the optic nerve (ON). Case Description: A 20-year-old female presented with a 1-year history of headache. At presentation, her visual acuity (VA) was 20/50 on the right side and 20/40 on the left, with an intraocular pressure of 17 mmHg on both sides. Cerebral magnetic resonance imaging revealed a broad-based tumor in the right frontal convexity. It measured 82 mm × 65 mm × 70 mm in diameter, accompanied by cystic components, and was inhomogeneously enhanced. The intraorbital ONs demonstrated prominent intramedullary hyperintensity on the constructive interference steady-state sequence. Gross total tumor resection was performed and the pathology was consistent with RM. Immediately after surgery, her VA and IOP were 20/17 and 10 mmHg, respectively, with a remarkable resolution of the intramedullary hyperintensity. Conclusion: Prominent hyperintensity in the ON identified in patients with chronic intracranial hypertension may be an indicator of visual disturbance. It can rapidly resolve after resolution of intracranial hypertension with functional recovery. [ABSTRACT FROM AUTHOR]

The behavior of rhabdoid meningiomas otherwise lacking malignant features remains unknown as most of the originally reported aggressive cases showed anaplastic histologic features independently of rhabdoid phenotype. We studied 44 patients with rhabdoid meningiomas lacking anaplastic features. Median age at diagnosis was 48.6 years (range 10-79). Location was supratentorial in 28 (63.6%), skull base in 15 (34.1%), and spinal in 1 (2.3%). Tumor grade was otherwise World Health Organization grade I (n = 22, 50%) or II (n = 22, 50%). Rhabdoid cells represented 50% in 14 (31.8%). Median clinical follow-up, available for 38 patients, was 5.0 years (range 0.17-14.2). Recurrence occurred in 9 patients (5-year recurrence-free survival, 73.7%) with a significantly higher risk in subtotally resected tumors (p = 0.043). Rhabdoid cell percentage was not associated with recurrence. Six patients died (4 of disease, 2 of unclear causes); 5-year overall survival was 86.7%, a mortality in excess of that expected in grade I-II meningiomas but much lower than originally reported. Review of 50 similar previously reported cases confirmed our findings. We suggest that rhabdoid meningiomas be graded analogously to nonrhabdoid tumors, with caution that some may still behave aggressively and close follow-up is recommended.

Malignant intraventricular meningiomas (IVMs) are very rare with only a few reported cases. A midline search up to December 2020 selected 40 articles for a total of 65 patients. The inclusion criteria were series and case reports in English language, as well as papers written in other languages, but with abstracts written in English. Malignant IVMs at the first diagnosis (group A, 50 patients) and those with anaplastic transformation from previous WHO grades I and II tumors (group B, 15 patients) were separately analyzed. The unique personal case among 1285 meningiomas (0.078%) is also added. Malignant IVMs mainly occur in women (61%) with a median age of 45 years and are mainly located in the lateral ventricle (93%) and trigonal region (74%), with no cases in the fourth ventricle. Irregular borders (80%), heterogeneous enhancement (83%), and perilesional edema (76%) are the most frequent radiological findings. The histology was mainly pure anaplastic (85%), whereas papillary (7%), rhabdoid (5%), and mixed forms (3%) are very rare. The CSF spread was found in 60% of the cases. The prognosis is very dismal, with an overall median survival of 17.5 months after surgery for the anaplastic forms. Malignant IVMs at initial diagnosis (group A) show better overall survival (25 months) than those occurring from anaplastic transformation of lower grade tumors (group B) (10.1 months). [ABSTRACT FROM AUTHOR]

Meningioma is the most common primary brain tumor, and recurrence risk increases with increasing WHO Grade from I to III. Rhabdoid meningiomas are a subset of WHO Grade III tumors with rhabdoid cells, a high proliferation index, and other malignant features that follow an aggressive clinical course. Some meningiomas with rhabdoid features either only focally or without other malignant features are classified as lower grade yet still recur early. Recently, inactivating mutations in the tumor suppressor gene BAP1 have been associated with poorer prognosis in rhabdoid meningioma and meningioma with rhabdoid features, and germline mutations have been linked to a hereditary tumor predisposition syndrome (TPDS) predisposing patients primarily to melanoma and mesothelioma. We present the first report of a familial BAP1 inactivating mutation identified after multiple generations of a family presented with meningiomas with rhabdoid features instead of with previously described BAP1 loss-associated malignancies. A 24-year-old female presented with a Grade II meningioma with rhabdoid and papillary features treated with subtotal resection, adjuvant external beam radiation therapy, and salvage gamma knife radiosurgery six years later. Around that time, her mother presented with a meningioma with rhabdoid and papillary features managed with resection and adjuvant radiation therapy. Germline testing was positive for a pathogenic BAP1 mutation in both patients. Sequencing of both tumors demonstrated biallelic BAP1 inactivation via the combination of germline BAP1 mutation and either loss of heterozygosity or somatic mutation. No additional mutations implicated in oncogenesis were noted from either patient’s germline or tumor sequencing, suggesting that the inactivation of BAP1 was responsible for pathogenesis. These cases demonstrate the importance of routine BAP1 tumor testing in meningioma with rhabdoid features regardless of grade, germline testing for patients with BAP1 inactivated tumors, and tailored cancer screening in this population.

Meningioma is the most common primary brain tumor, and recurrence risk increases with increasing WHO Grade from I to III. Rhabdoid meningiomas are a subset of WHO Grade III tumors with rhabdoid cells, a high proliferation index, and other malignant features that follow an aggressive clinical course. Some meningiomas with rhabdoid features either only focally or without other malignant features are classified as lower grade yet still recur early. Recently, inactivating mutations in the tumor suppressor gene BAP1 have been associated with poorer prognosis in rhabdoid meningioma and meningioma with rhabdoid features, and germline mutations have been linked to a hereditary tumor predisposition syndrome (TPDS) predisposing patients primarily to melanoma and mesothelioma. We present the first report of a familial BAP1 inactivating mutation identified after multiple generations of a family presented with meningiomas with rhabdoid features instead of with previously described BAP1 loss-associated malignancies. A 24-year-old female presented with a Grade II meningioma with rhabdoid and papillary features treated with subtotal resection, adjuvant external beam radiation therapy, and salvage gamma knife radiosurgery six years later. Around that time, her mother presented with a meningioma with rhabdoid and papillary features managed with resection and adjuvant radiation therapy. Germline testing was positive for a pathogenic BAP1 mutation in both patients. Sequencing of both tumors demonstrated biallelic BAP1 inactivation via the combination of germline BAP1 mutation and either loss of heterozygosity or somatic mutation. No additional mutations implicated in oncogenesis were noted from either patient's germline or tumor sequencing, suggesting that the inactivation of BAP1 was responsible for pathogenesis. These cases demonstrate the importance of routine BAP1 tumor testing in meningioma with rhabdoid features regardless of grade, germline testing for patients with BAP1 inactivated tumors, and tailored cancer screening in this population. [ABSTRACT FROM AUTHOR]

Meningioma is the most common central nervous system tumor that usually behaves benignly and has a good prognosis after treatment with tumor gross resection and with or without adjuvant therapy. Malignancy in meningioma is very rare and extracranial metastasis to cervical lymph nodes is even rarer. We report a case of a 40-year-old woman diagnosed with metastatic rhabdoid meningioma. She had recurrent primary disease and metastasis to bilateral cervical lymph nodes. She previously had intracranial tumor twice resected. We also review relevant, previously published cases in the literature. I hope you find these suggestions helpful. [ABSTRACT FROM AUTHOR]

Meningiomas are the most common primary brain tumors and are generally considered benign. However, a rare subgroup of meningiomas, classified as World Health Organization (WHO) grade III meningiomas, can show extremely aggressive behavior and high rates of recurrence. Despite ongoing research, data on the clinical outcome of this subgroup of meningiomas are still limited. Medical records of patients with WHO grade III meningiomas diagnosed between 2000 and 2018 at the Coimbra University Hospital Center were retrospectively reviewed and several variables of interest and their relation to patients' survival were analyzed. Of the 26 patients included in the final analysis, 23 had anaplastic meningiomas, 2 had papillary meningiomas, and 1 had a rhabdoid meningioma. Median overall survival and median progression-free survival were 2.45 and 1.22 years, respectively. Overall survival at 1, 2 and 5 years was 73%, 57%, and 35%, respectively. Adjuvant radiotherapy correlated with improved survival for subtotally resected meningiomas but not for gross totally resected meningiomas. There was a trend toward improved overall survival with gross total resection versus subtotal resection, but this difference failed to reach statistical significance. This study provides insight into the clinical outcomes of WHO grade III meningiomas and suggests that adjuvant radiotherapy may not be beneficial for patients who underwent gross total resection. This rare subset of meningiomas still portends a devastating prognosis and the impact of extent of resection and adjuvant therapies in these patients needs further clarification. [ABSTRACT FROM AUTHOR]

Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had a recurrence and the previous slides were reviewed. Tumor was positive for vimentin and negative for INI1. The differential diagnosis for this extra-axial tumor with long survival was rhabdoid meningioma with INI1 loss or ATRT. DNA methylation profiling was performed to reach the final and the most definitive diagnosis; the result was ATRT. Our case suggests the usefulness of DNA methylation profiling for diagnosing challenging CNS tumors.

Background: Spheno-orbital meningiomas (SOMs) are often benign. The association of meningioma and systemic lupus erythematosus (SLE) is rarely discussed in the literature. Here, we report two patients with high-grade, SOMs with a prolonged history of SLE and review the literature. Case Description: The first case is a 52-year-old female patient with a 15-year history of SLE diagnosis who was referred to our center with a 1-year history of proptosis and excessive tearing of the left eye. This patient was operated for the left SOM with histopathological diagnosis of the World Health Organization (WHO) Grade III rhabdoid meningioma. The second case is a 36-year-old female patient with a 12-year history of SLE diagnosis who presented to our clinic with a 5-year-history of progressive right eye proptosis and occasional headaches. She was operated for the right SOM with histopathological diagnosis of the WHO Grade II chordoid meningioma. Conclusion: Rhabdoid and chordoid SOMs are uncommon and no previous report discussed their occurrence in patients with SLE. The association of high-grade meningiomas and SLE deserves further exploration. [ABSTRACT FROM AUTHOR]

An 8-year-old girl was admitted with four limb weakness for 2 months. Hyperactive reflexes were observed in all four limbs, and positive Hoffmann's signs were revealed. An MRI spine with the coronal slide detected two tumors, first in the intradural and intramedullary space at the C2–C4 level and the second in the intradural and extramedullary space at the C5–C7 level. Axial T1W contrast MRI brain showed a tumor in the left parietal region. The patient underwent spine surgery first and following by brain surgery. No invasive lesions were remarked during surgery. Histological findings showed meningothelial meningioma and ependymoma from the spine and rhabdoid meningioma from the brain. Two months after the second surgery, the patient recovered fully with no symptoms and was able to participate in all regular activities in life. This work is the first report of a mixed tumor with distinct spinal meningioma and ependymoma components occurring in the cervical spinal cord at the C2–C7 level and coexisting with cranial meningioma. The remarkable result was that the patient fully recovered without any symptoms after receiving two surgeries. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis is a rare histologically distinct abnormality that is occasionally associated with intracranial meningioma. The rhabdoid variant of meningioma is also uncommon and is classified as a World Health Organization Grade III tumour. We report a case of meningioangiomatosis in conjunction with a meningioma with prominent rhabdoid features, in an infant male who underwent complete surgical resection of the lesion. The patient has been followed up for 6 years with no disease recurrence. To our knowledge, this is the first report in the literature describing meningioangiomatosis combined with a meningioma with rhabdoid features. [ABSTRACT FROM AUTHOR]

Meningiomas are the most common benign intracranial neoplasms in adults, but they have a lower incidence in children. Rhabdoid meningioma is a rare subtype of meningioma and is classified as World Health Organization grade III. We present a very rare case of a 9-year-old boy who presented to our institution with a history of headache, dizziness, and vomiting without neurologic deficit. The investigation showed a posterior fossa tumor with hemorrhage inside and hydrocephalus. He underwent tumor resection, and pathology showed rhabdoid meningioma. The patient had extensive recurrence after only 5 months, including extension to the neck, mediastinal veins, and heart. He was treated surgically and received adjuvant chemotherapy followed by radiation therapy. Rhabdoid meningioma is a malignant subtype of meningioma that occurs very rarely in pediatric patients. Additionally, rhabdoid meningioma, when it does occur in pediatric patients, has a high tendency to recur. Radical surgical resection with adjuvant radiotherapy is essential to prolonging survival. This is the first case with extracranial extension to the mediastinal veins and heart. [ABSTRACT FROM AUTHOR]

Only 1% to 2% of meningiomas have primary extrameningeal location, which is mostly head and neck region. Primary pulmonary meningiomas (PPMs) are even more uncommon with up to 50 cases reported in the literature. Only 5 cases of PPM with confirmed or possible malignancy have been previously described. Three-grade classification of meningiomas with the accordingly growing risk of aggressive behavior of the tumor has been proposed by the World Health Organization. As it is based on correlations between morphological and clinical features of intracranial meningiomas, the analogous prediction of ectopic tumors prognosis remains questionable due to scarce number of cases. In this article, we present a rare case of PPM with rhabdoid features (World Health Organization grade III), which lacked other signs of malignancy. The patient is doing well for 2 years after the thoracoscopic wedge resection without evidence of the disease recurrence. [ABSTRACT FROM AUTHOR]

We describe an atypical teratoid rhabdoid tumor (AT/RT) with a component of low-grade and anaplastic rhabdoid meningioma in a 7-year-old child. The AT/RT was uniformly negative for INI1 and displayed immunoreactivity for vimentin, P53, CD99, cytokeratins with AE1/AE3 antibodies, epithelial membrane antigen, ß-catenin, smooth muscle actin, E-cadherin, and S-100 protein. AT/RT was continuous, with small foci of recognizable low-grade and anaplastic meningioma. The low-grade meningioma was INI1 positive with scattered INI1-negative nuclei, whereas the remaining tumor components were INI1 negative. A recurrent tumor 6 months after partial resection contained only INI1-negative AT/RT. This case supports the hypothesis that rare examples of AT/RT may emerge from a preexisting "parent" neoplasm as a result of a second hit mutation. [ABSTRACT FROM AUTHOR]

Rhabdoid meningioma (RM) is a relatively new, rare, and aggressive subtype of meningioma, classified as Grade III malignancy in 2000, 2007 versions of WHO classification of the central nervous system. We reviewed the data available from all published cases of RMs. To the best of our knowledge, there are more than 100 published cases of RMs; none have documented extensive calcification or origin from the cranio cervical junction. We report the first case of a totally calcified (stony mass), primary RM, at the cranio cervical junction. Also, we highlighted the role of the transcondylar approach to achieve microscopic total removal of such a challenging lesion. A 37 year old female, allergic to erythromycin, presented with 5 years of progressive right upper extremity numbness and weakness, right facial numbness, and occipital pain. Imaging demonstrated a large calcified mass at the right posterior-lateral margin of the cranio cervical junction, encasing the right vertebral artery and right PICA loop. Patient underwent microscopic total resection of the lesion. Pathological diagnosis was confirmed as RM with atypical features. Subsequently, the patient received postoperative intensity modulated radiotherapy (IMRT) on the tumor bed, and close follow up imaging showed no recurrence 2 years after surgery. We report the first case of a primary RM originating from the cranial cervical junction; also, it is the first case to present with extensive calcification in this morphological subtype. We also conclude that RM has now become a feature of newly diagnosed cases and not only a disease of recurrent cases as it was thought in the past. Since RMs are typically considered aggressive, total surgical resection with close follow up and postoperative adjuvant radiation should be considered. However, the adjuvant therapy of each separate case of RM should be tailored according to its particular histopathologic profile.

Rhabdoid meningioma (RM) is a special type of meningioma. Thepathologic features of RM include sheets of rhabdoid tumor cellswith or without the findings typical of conventional meningiomas.Since the disease is rare, and the histologic structure similar to that of other tumors, misdiagnosis and failure to include the entity in the differentiation can occur from time to time. In this article, the pathologic features and immunophenotype of RM are analyzed, in combination with analysis of a case treated at our institution and a review of the literature.

Background: Treatment options for oncological diseases have been enhanced by the advent of targeted therapies. The point mutation of the BRAF gene at codon 600 (BRAF V600E) is found in several tumor entities and can be approached with selective inhibitory antibodies. The BRAF inhibitor vemurafenib has demonstrated clinical efficacy in patients with BRAF V600E-mutant melanoma brain metastases and in other cancer diseases. Therefore the BRAF V600E mutation is a highly interesting oncological target in brain tumors. Methods: This study assesses the BRAF V600E mutation status in 969 intracranial neoplasms using a tissue microarray method and immunohistochemical staining with the mutation-specific VE-1 antibody, followed by sequencing of positively stained cases. Results: Out of 784 primary brain tumors seven cases with a BRAF V600E mutation were detected (7/784, 1 %). Six of these cases were neuroepithelial tumors (6/667, 1 %) encompassing 2 astrocytomas WHO grade II (2/42, 5 %), 1 gliosarcoma WHO grade IV (1/75, 1 %) and 3 glioblastomas WHO grade IV (3/312, 1 %). Interestingly, all three mutant glioblastomas showed epithelioid histopathological features. Patients with V600E mutated astrocytic tumors were significantly younger (mean age 15.3 years) than wildtype cases (58.2 years). Among three rhabdoid meningiomas, one case was mutated (1/3) while all other grade I-III meningiomas (1/116, 1 %) and all fifty vestibular schwannomas analyzed were of wildtype status. The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. Conclusions: Our data suggest routine screening for BRAF V600E mutations for glioblastomas WHO grade IV below the age of 30, especially in glioblastomas with epithelioid features and in all rhabdoid meningiomas WHO grade III. For colorectal carcinoma, thyroid cancer, malignant melanoma and gliomas BRAF V600E immunostaining is sufficient for screening purposes. We also recommend routine immunohistochemical staining followed by sequencing validation in rare CNS metastases or metastases of unknown primary. Immunohistochemical analysis using mutation-specific antibodies on tissue microarrays is a feasible, time- and cost-efficient approach to high-throughput screening for specific mutations in large tumor series but sequencing validation is necessary in unexpected cases. [ABSTRACT FROM AUTHOR]

Background: Rhabdoid meningioma (RM) is a rare subtype of meningioma, classified as World Health Organization grade III with a poor prognosis. Here we present our experience on RM and review relevant literature in an attempt to investigate the clinical features, treatment, and prognosis of these tumors. Methods: Twelve patients underwent surgical treatment for intracranial RMs between 2003 and 2008 in our department. The clinical data, radiological manifestations, pathological findings, treatments, and prognoses of the patients were analyzed retrospectively; 58 other cases reported previously by other institutions also were summarized and reviewed. Results: These cases (6 men and 6 women, mean age 44.3 years old, ranging from 21 to 78 years old) constituted 0.28% of all meningioma patients admitted at our department during the same period. The mean duration of symptoms was relatively short at 1.6 months. There was no significant clinical manifestation noted, and the radiologic findings fell into 3 types of images. In the follow-up period of over 30 months, 7 patients died; 5 patients had recurrence and 2 patients died of unknown causes. Conclusions: RM is a rare subtype of malignant meningioma featuring an increased tendency for recurrence and possible metastasis. It is still difficult to make a correct preoperative diagnosis. The overall prognosis for these patients is extremely poor, and the role of various adjuvant treatments needs to be further studied. [ABSTRACT FROM AUTHOR]

Secretory, clear cell, and rhabdoid meningiomas are rare variants of meningiomas characterized by unique histologies and behaviors. Extracellular matrix proteins provide a morphologic structure and influence the biologic behavior of tumors. However, the effects of extracellular matrix proteins on morphologies and biologic behaviors of secretory meningioma, clear cell meningioma, and rhabdoid meningioma have not been established. We evaluated the expression of matrix metalloproteinase 2, matrix metalloproteinase 9, galectin-3, fibronectin, and collagen IV in a series of those rare variants of meningioma and verified their clinicopathologic significance. A total 51 cases included 12 secretory meningiomas, 9 clear cell meningiomas, and 30 rhabdoid meningiomas. Extracellular matrix proteins showed different expression patterns according to the histologic subtypes, and messenger RNA levels were well correlated with immunoexpressions. Secretory meningiomas showed high expressions of fibronectin and galectin-3. Clear cell meningiomas showed high expression of matrix metalloproteinase 2, matrix metalloproteinase 9, and collagen IV. Rhabdoid meningiomas showed high expressions of matrix metalloproteinase 9, galectin-3, and fibronectin. Clinically, high expression of matrix metalloproteinase 9 was associated with tumor recurrence (P < .001) and local invasion at the time of diagnosis (P = .018) among the extracellular matrix--related proteins, and was also associated with shorter recurrence-free survival (P = .025) in the patients with rhabdoid meningioma. In conclusion, the differential expressions of extracellular matrix--related genes according to the histologic subtypes appear to be involved in biologic behavior and clinical outcome, and high matrix metalloproteinase 9 expression is associated with recurrences in rhabdoid meningiomas. [ABSTRACT FROM AUTHOR]

Rhabdoid meningioma (RM) is a rare aggressive phenotype and is classified as a grade III neoplasm by the World Health Organization. A 29-year-old woman initiated treatment with clomiphene citrate for infertility. Two weeks later, she presented with acute headache and nausea. Brain computed tomography and magnetic resonance imaging demonstrated a tumor with hematoma in the left frontoparietal region. Surgical resection was performed, and the tumor was subtotally removed. The tumor was diagnosed as a rhabdoid meningioma (RM). Despite radiation and chemotherapy, she experienced regrowth and dissemination to the spinal cord. She died 11 months after onset of symptoms. Spontaneous hemorrhage is an unusual presentation of RM. In our case, infertility treatment may have triggered progression and bleeding because of an imbalance of sex hormones. [ABSTRACT FROM AUTHOR]