scholarly journals High-grade astrocytoma with piloid features (HGAP): the Charité experience with a new central nervous system tumor entity

2021 ◽  
Author(s):  
Katja Bender ◽  
Eilís Perez ◽  
Mihaela Chirica ◽  
Julia Onken ◽  
Johannes Kahn ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
World Health ◽  
Central Nervous System Tumor ◽  
High Grade ◽  
Thoracic Spinal Cord ◽  
High Grade Astrocytoma ◽  
Tumor Entity

Abstract Purpose High-grade astrocytoma with piloid features (HGAP) is a recently described brain tumor entity defined by a specific DNA methylation profile. HGAP has been proposed to be integrated in the upcoming World Health Organization classification of central nervous system tumors expected in 2021. In this series, we present the first single-center experience with this new entity. Methods During 2017 and 2020, six HGAP were identified. Clinical course, surgical procedure, histopathology, genome-wide DNA methylation analysis, imaging, and adjuvant therapy were collected. Results Tumors were localized in the brain stem (n = 1), cerebellar peduncle (n = 1), diencephalon (n = 1), mesencephalon (n = 1), cerebrum (n = 1) and the thoracic spinal cord (n = 2). The lesions typically presented as T1w hypo- to isointense and T2w hyperintense with inhomogeneous contrast enhancement on MRI. All patients underwent initial surgical intervention. Three patients received adjuvant radiochemotherapy, and one patient adjuvant radiotherapy alone. Four patients died of disease, with an overall survival of 1.8, 9.1, 14.8 and 18.1 months. One patient was alive at the time of last follow-up, 14.6 months after surgery, and one patient was lost to follow-up. Apart from one tumor, the lesions did not present with high grade histology, however patients showed poor clinical outcomes. Conclusions Here, we provide detailed clinical, neuroradiological, histological, and molecular pathological information which might aid in clinical decision making until larger case series are published. With the exception of one case, the tumors did not present with high-grade histology but patients still showed short intervals between diagnosis and tumor progression or death even after extensive multimodal therapy.

scholarly journals Pilomyxoid Astrocytoma Occurring in the Third Ventricle

2015 ◽  
Vol 5 ◽  
pp. 41
Author(s):  
Sanghyeon Kim ◽  
Myongjin Kang ◽  
Sunseob Choi ◽  
Dae Cheol Kim
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
World Health Organization ◽  
Third Ventricle ◽  
World Health ◽  
Central Nervous System Tumor ◽  
Pilomyxoid Astrocytoma ◽  
The Third ◽  
The Central Nervous System ◽  
Health Organization

Pilomyxoid astrocytoma (PMA) is a rare central nervous system tumor that has been included in the 2007 World Health Organization Classification of Tumors of the Central Nervous System. Due to its more aggressive behavior, PMA is classified as Grade II neoplasm by the World Health Organization. PMA predominantly affects the hypothalamic/chiasmatic region and occurs in children (mean age of occurrence = 10 months). We report a case of a 24-year-old man who presented with headache, nausea, and vomiting. Brain CT and MRI revealed a mass occupying only the third ventricle. We performed partial resection. Histological findings, including monophasic growth with a myxoid background, and absence of Rosenthal fibers or eosinophilic granular bodies, as well as the strong positivity for glial fibrillary acidic protein were consistent with PMA.

Action observation therapy in pediatric patients with neuromotor deficits of the upper limbs secondary to central nervous system tumors

2019 ◽  
Vol 105 (6) ◽  
pp. NP75-NP78
Author(s):  
Marco Chisari ◽  
Raffaella Sensi ◽  
Carlo Alfredo Clerici ◽  
Fulvia Angela Gariboldi ◽  
Filippo Spreafico ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mirror Neurons ◽  
Action Observation ◽  
Case Series ◽  
Central Nervous System Tumor ◽  
Assessment Tests ◽  
System Tumor ◽  
Positive Results

This study reports a case series of patients with upper limb neuromotor deficits following pediatric central nervous system tumor and treated with rehabilitative therapy according to action observation therapy (AOT). AOT is based on the “mirror neurons” system and had positive results in various non-oncologic neurologic pathologies. This study is the first experience in the oncology field, and included 6 patients, 4 of whom were fully evaluated at 6-month follow-up. In all patients, therapy showed improvement in all assessment tests. These promising results lead to further studies to confirm their effectiveness.

Glial Central Nervous System Tumours of Childhood

2020 ◽  
pp. 179-187
Author(s):  
Dannis van Vuurden ◽  
Darren Hargrave ◽  
Dominik Sturm ◽  
David T.W. Jones
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
World Health ◽  
High Grade ◽  
Dismal Prognosis ◽  
Central Nervous System Tumours ◽  
Current Therapies ◽  
Cns Tumours ◽  
Health Organization ◽  
Future Outcomes

Gliomas are the largest group of paediatric central nervous system (CNS) tumours and can affect any age and location. Currently, they are divided into low and high grade using the World Health Organization (WHO) classification but, increasingly, biology is being used to classify and stratify therapy, and this division may be challenged in the future. Outcomes vary greatly with some low-grade tumours being very indolent, requiring nothing more than careful observation, compared to aggressive high-grade gliomas of the brainstem that have a dismal prognosis. Current therapies are based on surgery, radiotherapy, and cytotoxic chemotherapy but, increasingly, biologically targeted therapies are being explored in an attempt to increase survival and decrease late effects and the burden of treatment.

scholarly journals NCMP-22. SECOND MALIGNANCIES FOLLOWING TREATMENT FOR PRIMARY CENTRAL NERVOUS SYSTEM TUMORS IN PEDIATRIC PATIENTS: A SINGLE-INSTITUTIONAL RETROSPECTIVE REVIEW

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii127-ii127
Author(s):  
Nicholas Pytel ◽  
Erik Dedekam ◽  
Shahriar M Salamat ◽  
Diane Puccetti
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pediatric Patients ◽  
Cns Tumors ◽  
High Grade ◽  
Second Malignancies ◽  
Second Neoplasm ◽  
Second Neoplasms ◽  
High Grade Gliomas

Abstract Second malignant neoplasms following treatment for primary central nervous system (CNS) tumors in children are rare occurrences but may often have dire consequences, particularly, if thought to be induced by prior therapies. The authors retrospectively reviewed pediatric patients with primary CNS malignancies from the University of Wisconsin over the last 25 years (1994 – 2019) with any secondary malignant neoplasm and determined seven patients met criteria. Treatment modalities were reviewed with all patients receiving surgery, chemotherapy, and radiotherapy for treatment of their first malignancy. The second neoplasms found included 4 high-grade gliomas, 1 meningioma, 1 thyroid carcinoma, and 1 myelodysplastic syndrome. The median latency time between diagnoses was 9 years (range 4 -17 years). The outcomes varied according to histopathology of the second neoplasm with the high-grade glioma patients all deceased from progressive disease. The high-grade gliomas were thought to have been induced by prior radiation in most cases. The remaining patients are still alive, at the time of this writing, and in follow up after treatment for their second neoplasm. Thus, long-term follow up is essential for children treated for a primary CNS tumor given the variety of second neoplasms that could arise with differential consequences. In addition to our single institutional outcomes, we will also present an updated review of the literature of pediatric patients with primary CNS tumors and second malignancies.

scholarly journals Advanced Magnetic Resonance Imaging in Pediatric Glioblastomas

2021 ◽  
Vol 12 ◽  
Author(s):  
Fabrício Guimarães Gonçalves ◽  
Angela N. Viaene ◽  
Arastoo Vossough
Keyword(s):  
Magnetic Resonance Imaging ◽  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
World Health ◽  
Resonance Spectroscopy ◽  
Variable Degree ◽  
High Grade ◽  
Resonance Imaging ◽  
The Family

The shortly upcoming 5th edition of the World Health Organization Classification of Tumors of the Central Nervous System is bringing extensive changes in the terminology of diffuse high-grade gliomas (DHGGs). Previously “glioblastoma,” as a descriptive entity, could have been applied to classify some tumors from the family of pediatric or adult DHGGs. However, now the term “glioblastoma” has been divested and is no longer applied to tumors in the family of pediatric types of DHGGs. As an entity, glioblastoma remains, however, in the family of adult types of diffuse gliomas under the insignia of “glioblastoma, IDH-wildtype.” Of note, glioblastomas still can be detected in children when glioblastoma, IDH-wildtype is found in this population, despite being much more common in adults. Despite the separation from the family of pediatric types of DHGGs, what was previously labeled as “pediatric glioblastomas” still remains with novel labels and as new entities. As a result of advances in molecular biology, most of the previously called “pediatric glioblastomas” are now classified in one of the four family members of pediatric types of DHGGs. In this review, the term glioblastoma is still apocryphally employed mainly due to its historical relevance and the paucity of recent literature dealing with the recently described new entities. Therefore, “glioblastoma” is used here as an umbrella term in the attempt to encompass multiple entities such as astrocytoma, IDH-mutant (grade 4); glioblastoma, IDH-wildtype; diffuse hemispheric glioma, H3 G34-mutant; diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; and high grade infant-type hemispheric glioma. Glioblastomas are highly aggressive neoplasms. They may arise anywhere in the developing central nervous system, including the spinal cord. Signs and symptoms are non-specific, typically of short duration, and usually derived from increased intracranial pressure or seizure. Localized symptoms may also occur. The standard of care of “pediatric glioblastomas” is not well-established, typically composed of surgery with maximal safe tumor resection. Subsequent chemoradiation is recommended if the patient is older than 3 years. If younger than 3 years, surgery is followed by chemotherapy. In general, “pediatric glioblastomas” also have a poor prognosis despite surgery and adjuvant therapy. Magnetic resonance imaging (MRI) is the imaging modality of choice for the evaluation of glioblastomas. In addition to the typical conventional MRI features, i.e., highly heterogeneous invasive masses with indistinct borders, mass effect on surrounding structures, and a variable degree of enhancement, the lesions may show restricted diffusion in the solid components, hemorrhage, and increased perfusion, reflecting increased vascularity and angiogenesis. In addition, magnetic resonance spectroscopy has proven helpful in pre- and postsurgical evaluation. Lastly, we will refer to new MRI techniques, which have already been applied in evaluating adult glioblastomas, with promising results, yet not widely utilized in children.

scholarly journals A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Arnault Tauziède-Espariat ◽  
Gaëlle Pierron ◽  
Delphine Guillemot ◽  
Philipp Sievers ◽  
Dominique Cazals-Hatem ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Soft Tissue ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
World Health ◽  
Tumor Type ◽  
Cell Sarcoma ◽  
The Central Nervous System

AbstractA novel histomolecular tumor of the central nervous system, the “intracranial mesenchymal tumor (IMT), FET-CREB fusion-positive” has recently been identified in the literature and will be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System. However, our latest study using DNA-methylation analyses has revealed that intracranial FET-CREB fused tumors do not represent a single molecular tumor entity. Among them, the main subgroup presented classical features of angiomatoid fibrous histiocytoma, having ultrastructural features of arachnoidal cells, for. Another tumor type with clear cell component and histopathological signs of aggressivity clustered in close vicinity with clear cell sarcoma of soft tissue. Herein, we report one case of IMT with a novel SMARCA2-CREM fusion which has until now never been described in soft tissue or the central nervous system. We compare its clinical, histopathological, immunophenotypic, genetic and epigenetic features with those previously described in IMT, FET-CREB fusion-positive. Interestingly, the current case did not cluster with IMT, FET-CREB fusion-positive but rather presented histopathological (clear cell morphology with signs of malignancy), clinical (with a dismal course with several recurrences, metastases and finally the patient’s death), genetic (fusion implicating the CREM gene), and epigenetic (DNA-methylation profiling) similarities with our previously reported clear cell sarcoma-like tumor of the central nervous system. Our results added data suggesting that different clinical and histomolecular tumor subtypes or grades seem to be included within the terminology “IMT, FET-CREB fusion-positive”, and that further series of cases are needed to better characterize them.

scholarly journals RONC-22. SECOND TUMORS IN PEDIATRIC PATIENTS TREATED WITH PROTON THERAPY TO THE CENTRAL NERVOUS SYSTEM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii459-iii459
Author(s):  
Daniel J Indelicato ◽  
James Bates ◽  
Raymond Mailhot-Vega ◽  
Christopher Morris ◽  
Eric Sandler ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Proton Therapy ◽  
Cumulative Incidence ◽  
Pediatric Patients ◽  
Photon Radiation ◽  
Low Grade ◽  
High Grade ◽  
Second Tumors

Abstract BACKGROUND Previous institutional data suggests the 10-year cumulative incidence of second tumors is 3% in children treated with photon radiation for central nervous system (CNS) malignancy, with 90% of these tumors occurring in areas receiving ≤36 Gy. Comparative figures for children treated with proton therapy (PT) does not exist. METHODS 1056 consecutive pediatric patients with a median follow-up of 5.0 years were treated between 2006–2019 with double-scattered PT to a site within the craniospinal axis. 230 patients were ≤3 years old and 14 had neurofibromatosis. A second tumor was defined as any solid neoplasm with histologic features different from the original tumor that had arisen within the irradiated volume. RESULTS Five patients developed second tumors resulting in a 5- and 10-year cumulative incidence of 0.2% (95% CI: 0–1.2%) and 1.6% (95% CI: 0.6%-3.9%), respectively. Of those who developed second tumors, median age at radiation was 4.3 years old (range, 2.1 to 5.1 years old) and diagnoses consisted of medulloblastoma (n=2), ependymoma (n=2), and craniopharyngioma (n=1). The second tumors included high grade gliomas (n=3) and high grade sarcoma (n=1) that occurred in regions receiving at least 54 Gy. One patient with neurofibromatosis developed both a low-grade glioma and choroidal melanoma in craniospinal irradiation regions receiving 36 Gy. Four of five patients with second tumors are alive. CONCLUSION The reduction in moderate-to-low dose radiation exposure from proton therapy may be associated with a decreased incidence of second tumors in children treated for CNS neoplasms. More follow-up is needed to confirm these findings.

scholarly journals Histopathological pattern of central nervous system tumor: A three year retrospective study

1970 ◽  
Vol 1 (1) ◽  
pp. 22-25 ◽  
Author(s):  
G Aryal
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Metastatic Tumor ◽  
University Hospital ◽  
Cns Tumors ◽  
World Health ◽  
Central Nervous System Tumor ◽  
Medical College ◽  
Frequent Type ◽  
The Central Nervous System

Background: There is no documented data regarding the histopathological spectrum of the central nervous system (CNS) tumors in Nepal. The aim of this study was to establish the relative frequency of biopsy proven tumors of the CNS from a single university hospital in Nepal. Materials and Methods: In the period between1998-2000, we retrospectively analyzed data on 57 patients (28 male and 29 female) diagnosed with CNS tumors according to the World Health Organization’s diagnostic criteria. Patient data were retrieved from the archives of the department of Pathology, Nepal Medical College. Results: A total of 57 CNS tumors were diagnosed during a three year period. Of these, 49 (86%) were primary, and 8 (14%) were metastatic. The most frequent type of CNS tumors was astrocytoma (22 cases, 38.6%), followed by meningioma (8 cases, 14%) and metastatic tumor (8 cases, 14%). Among the 8 metastatic tumors, the most common histologic type was adenocarcinoma (7 cases, 87.5%). Conclusion: The most frequent type of CNS tumors in this study was astrocytoma, followed by meningioma and metastatic tumor. The ratio of male to female for all CNS tumors was 0.9:1. Female outnumbered male in meningioma (1:0.3). Keywords: Astrocytoma; Meningioma; Tumor; Nepal; Central nervous system   DOI: 10.3126/jpn.v1i1.4445 Journal of Pathology of Nepal (2011) Vol.1, 22-25

Lack of BRAF-V600E Mutation in Papillary Tumor of the Pineal Region

Neurosurgery ◽  
2015 ◽  
Vol 77 (4) ◽  
pp. 621-628 ◽  
Author(s):  
Patrick J. Cimino ◽  
Luis F. Gonzalez-Cuyar ◽  
Arie Perry ◽  
Sonika Dahiya
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pineal Region ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
World Health ◽  
Central Nervous System Tumor ◽  
Papillary Tumor ◽  
Additional Material ◽  
Female Ratio

Abstract BACKGROUND: Papillary tumor of the pineal region (PTPR) is a rare central nervous system tumor with a variably aggressive clinical behavior, corresponding to World Health Organization grade II/III. Very little is known about the genetic mutations comprising PTPR. Recent studies have shown that other papillary tumors harbor BRAF-V600E mutations, namely papillary thyroid carcinoma and papillary craniopharyngioma, the latter of which is a midline central nervous system papillary tumor like PTPR. OBJECTIVE: To determine whether PTPR may contain the BRAF-V600E mutation. METHODS: A search of our institutional files was conducted for PTPR cases. Chart review was performed to obtain demographics and pertinent clinical information when possible. Immunohistochemistry was performed with an anti–BRAF-V600E antibody for cases with additional material for testing. RESULTS: We identified 19 PTPR cases occurring in 16 patients. The patient age range was 1 to 73 years (average, 32.2 years). The male-to-female ratio was 1:1. Thirteen patients presented with symptoms of obstructive hydrocephalus, and the other 3 had unknown presenting symptoms. Initial magnetic resonance imaging characteristics tended to include partially cystic masses with heterogeneous postcontrast enhancement. The tumor size ranged from 1.1 to 4.4 cm (average, 2.5 cm). CONCLUSION: Of the 16 patients, 13 had additional material for BRAF-V600E immunohistochemistry, all of which demonstrated negativity for BRAF-V600E. This rate is unlike that of other midline papillary tumors and suggests that these tumors, despite their papillary phenotype, may have a distinctive molecular background.

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