-
Child's Nervous System : ChNS :... Oct 2015Three tumors are commonly encountered in the posterior fossa of children: pilocytic astrocytoma (PA), medulloblastoma (MB), and ependymoma. However, a variety of... (Review)
Review
INTRODUCTION
Three tumors are commonly encountered in the posterior fossa of children: pilocytic astrocytoma (PA), medulloblastoma (MB), and ependymoma. However, a variety of additional tumors may occasionally be appreciated. Appropriate and successful treatment of these less common cases is predicated upon correct pathologic diagnosis.
METHODS/RESULTS
Reviewed herein are five less common tumors that may affect the posterior fossa of children: (1) "embryonal tumor with multilayered rosettes" (ETMR); (2) "cribriform neuroepithelial tumor" (CRINET); (3) "rosette-forming glioneuronal tumor" (RGNT); (4) "diffuse pilocytic astrocytoma" (dPA); and, (5) "desmoplastic small round cell tumor" (DSRCT). Each of the foregoing has a varying predilection for children and a posterior fossa location. For example, RGNT by definition arises in association with the 4th ventricle; while the mean age of those afflicted is 33, children may also be affected. Likewise, descriptions of dPA are generally restricted to the posterior fossa, and in particular, the cerebellum of children. Alternatively, DSRCT is a form of undifferentiated sarcoma that characteristically originates in the abdomen of children, but on occasion arises from the tentorium of young adults and children. The relevant molecular genetic underpinnings for each of the tumors highlighted herein have been well described and may carry diagnostic utility, not to mention clues as to underlying etiology.
CONCLUSION
A number of pediatric brain tumors have a tendency to occur in the posterior fossa. While far less common than PA, MB, or ependymoma, the entities highlighted herein appear to have a degree of proclivity for the posterior fossa of children and as such warrant due consideration in the clinicopathologic workup of these cases.
Topics: Astrocytoma; Child; Cranial Fossa, Posterior; Ependymoma; Humans; Infratentorial Neoplasms; Medulloblastoma
PubMed: 26351226
DOI: 10.1007/s00381-015-2735-1 -
Academic Radiology Feb 2024The 5th edition of the World Health Organization classification of tumors of the Central Nervous System (WHO CNS) has introduced the term "diffuse" and its counterpart...
RATIONALE AND OBJECTIVES
The 5th edition of the World Health Organization classification of tumors of the Central Nervous System (WHO CNS) has introduced the term "diffuse" and its counterpart "circumscribed" to the category of gliomas. This study aimed to develop and validate models for distinguishing circumscribed astrocytic gliomas (CAGs) from diffuse gliomas (DGs).
MATERIALS AND METHODS
We retrospectively analyzed magnetic resonance imaging (MRI) data from patients with CAGs and DGs across three institutions. After tumor segmentation, three volume of interest (VOI) types were obtained: VOI, VOI, and VOI Clinical and combined models (incorporating radiomics and clinical features) were also established. To address imbalances in training dataset, Synthetic Minority Oversampling Technique was employed.
RESULTS
A total of 475 patients (DGs: n = 338, CAGs: n = 137) were analyzed. The VOI model demonstrated the best performance for differentiating CAGs from DGs, achieving an area under the curve (AUC) of 0.806 and area under the precision-recall curve (PRAUC)of 0.894 in the cross-validation set. Using analysis of variance (ANOVA) feature selector and Support Vector Machine (SVM) classifier, seven features were selected. The model achieved an AUC and AUPRC of 0.912 and 0.972 in the internal validation dataset, and 0.897 and 0.930 in the external validation dataset. The combined model, incorporating interface radiomics and clinical features, showed improved performance in the external validation set, with an AUC of 0.94 and PRAUC of 0.959.
CONCLUSION
Radiomics models incorporating the peritumoral area demonstrate greater potential for distinguishing CAGs from DGs compared to intratumoral models. These findings may hold promise for evaluating tumor nature before surgery and improving clinical management of glioma patients.
Topics: Humans; Nomograms; Retrospective Studies; Radiomics; ROC Curve; Glioma; Magnetic Resonance Imaging; Astrocytoma
PubMed: 37507329
DOI: 10.1016/j.acra.2023.06.033 -
Indian Journal of Pathology &... May 2022Low-grade gliomas are the most common primary central nervous system (CNS) neoplasms in the pediatric age group. The majority of these tumors are circumscribed, while... (Review)
Review
Low-grade gliomas are the most common primary central nervous system (CNS) neoplasms in the pediatric age group. The majority of these tumors are circumscribed, while diffuse low-grade gliomas are relatively rare. The pediatric type diffuse low-grade gliomas (pDLGG) have a distinctly different biological behavior, molecular profile, and clinical outcome as compared to their adult counterpart. In the 5 edition of World Health Organization (WHO) CNS classification, pDLGGs are subclassified into four distinct histomolecular entities, namely, (i) diffuse astrocytoma, MYB- or MYBL1-altered, (ii) angiocentric glioma, (iii) polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and (iv) diffuse low-grade glioma, MAPK pathway-altered. Although the molecular profile, to a great extent, aligns with the morphological features, it is not specific. Many of the molecular alterations described in pDLGG have therapeutic implications with the availability of newer targeted therapies. A wide range of testing platforms are available for routine assessment of these molecular alterations in clinical laboratories, though WHO does not recommend any particular method.
Topics: Astrocytoma; Brain Neoplasms; Child; Glioma; Humans; Mutation; World Health Organization
PubMed: 35562133
DOI: 10.4103/ijpm.ijpm_1043_21 -
Journal of Magnetic Resonance Imaging :... Sep 2023The fifth edition of the World Health Organization (WHO) classification of central nervous system tumors published in 2021 advances the role of molecular diagnostics in... (Review)
Review
The 2021 WHO Classification for Gliomas and Implications on Imaging Diagnosis: Part 2-Summary of Imaging Findings on Pediatric-Type Diffuse High-Grade Gliomas, Pediatric-Type Diffuse Low-Grade Gliomas, and Circumscribed Astrocytic Gliomas.
The fifth edition of the World Health Organization (WHO) classification of central nervous system tumors published in 2021 advances the role of molecular diagnostics in the classification of gliomas by emphasizing integrated diagnoses based on histopathology and molecular information and grouping tumors based on genetic alterations. This Part 2 review focuses on the molecular diagnostics and imaging findings of pediatric-type diffuse high-grade gliomas, pediatric-type diffuse low-grade gliomas, and circumscribed astrocytic gliomas. Each tumor type in pediatric-type diffuse high-grade glioma mostly harbors a distinct molecular marker. On the other hand, in pediatric-type diffuse low-grade gliomas and circumscribed astrocytic gliomas, molecular diagnostics may be extremely complicated at a glance in the 2021 WHO classification. It is crucial for radiologists to understand the molecular diagnostics and imaging findings and leverage the knowledge in clinical practice. EVIDENCE LEVEL: 3 TECHNICAL EFFICACY: Stage 3.
Topics: Humans; Child; Brain Neoplasms; Glioma; Astrocytoma; Central Nervous System Neoplasms; Mutation; World Health Organization
PubMed: 37069764
DOI: 10.1002/jmri.28740 -
Pilocytic astrocytoma: a review of genetic and molecular factors, diagnostic and prognostic markers.Histology and Histopathology Oct 2014In spite of numerous studies concerning the pathogenesis of pilocytic astrocytoma (PA), the exact mechanism of the process still remains undetermined. It is difficult to... (Review)
Review
In spite of numerous studies concerning the pathogenesis of pilocytic astrocytoma (PA), the exact mechanism of the process still remains undetermined. It is difficult to obtain concordance between particular studies, which makes review of existing data especially troublesome. Nevertheless, the most important causative factors seem to be NF1 gene inactivation, in cases related to neurofibromatosis type 1, and BRAF gene overexpression in sporadic PAs, both resulting in MAPK/Erk pathway upregulation. Other molecular alterations, like mTOR or PI3K pathway deregulation, or Matrilin 2 overexpression, may influence the course of the disease, leading to the development of more aggressive and recurrent tumors. In the current paper we review genetic alterations in PA and describe currently studied molecular markers that may contribute to the development of the tumor and can be used in pathological staging of the malformation.
Topics: Astrocytoma; Biomarkers, Tumor; Central Nervous System Neoplasms; Cytogenetics; Humans; Prognosis
PubMed: 24554201
DOI: 10.14670/HH-29.1235 -
Journal of Clinical Neuroscience :... Nov 2014This clinical series examines the presentation of three adult patients who were found to have de novo anaplastic pilocytic astrocytoma. Initial imaging demonstrated an...
This clinical series examines the presentation of three adult patients who were found to have de novo anaplastic pilocytic astrocytoma. Initial imaging demonstrated an intracranial mass with histological analysis diagnostic of pilocytic astrocytoma with anaplastic features including necrosis, marked nuclear pleomorphism and a very high mitotic rate leading to the diagnosis of anaplastic pilocytic astrocytoma. We discuss the clinical pitfalls, treatment and implications when managing this condition.
Topics: Adult; Astrocytoma; Brain; Female; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Mitotic Index; Necrosis; Neoplasm Grading; Neurofibromatoses; Papilledema
PubMed: 24954244
DOI: 10.1016/j.jocn.2014.02.014 -
Glia Aug 2019Gliomas are a heterogenous group of malignant primary brain tumors that arise from glia cells or their progenitors and rely on accurate diagnosis for prognosis and...
Gliomas are a heterogenous group of malignant primary brain tumors that arise from glia cells or their progenitors and rely on accurate diagnosis for prognosis and treatment strategies. Although recent developments in the molecular biology of glioma have improved diagnosis, classical histological methods and biomarkers are still being used. The glial fibrillary acidic protein (GFAP) is a classical marker of astrocytoma, both in clinical and experimental settings. GFAP is used to determine glial differentiation, which is associated with a less malignant tumor. However, since GFAP is not only expressed by mature astrocytes but also by radial glia during development and neural stem cells in the adult brain, we hypothesized that GFAP expression in astrocytoma might not be a direct indication of glial differentiation and a less malignant phenotype. Therefore, we here review all existing literature from 1972 up to 2018 on GFAP expression in astrocytoma patient material to revisit GFAP as a marker of lower grade, more differentiated astrocytoma. We conclude that GFAP is heterogeneously expressed in astrocytoma, which most likely masks a consistent correlation of GFAP expression to astrocytoma malignancy grade. The GFAP positive cell population contains cells with differences in morphology, function, and differentiation state showing that GFAP is not merely a marker of less malignant and more differentiated astrocytoma. We suggest that discriminating between the GFAP isoforms GFAPδ and GFAPα will improve the accuracy of assessing the differentiation state of astrocytoma in clinical and experimental settings and will benefit glioma classification.
Topics: Animals; Astrocytoma; Biomarkers, Tumor; Central Nervous System Neoplasms; Glial Fibrillary Acidic Protein; Humans; Protein Isoforms
PubMed: 30667110
DOI: 10.1002/glia.23594 -
The Spine Journal : Official Journal of... Jul 2023Diffuse gliomas of the spine (DGS)-consisting of intradural intramedullary glioblastoma, astrocytoma, and oligodendroglioma-are exceedingly rare tumors that account for...
BACKGROUND CONTENT
Diffuse gliomas of the spine (DGS)-consisting of intradural intramedullary glioblastoma, astrocytoma, and oligodendroglioma-are exceedingly rare tumors that account for about 2% of primary spinal cord tumors. Much is unknown about their optimal treatment regimen due to a relative lack of clinical outcome data.
PURPOSE
To provide an updated analysis on treatment and outcomes in DGS.
STUDY DESIGN/SETTING
Observational cohort study using The National Cancer Database (NCDB), a multicenter prospectively collected oncology outcomes database. A systematic literature review was also performed to compare the resulting data to previous series.
PATIENT SAMPLE
Patients with histologically confirmed DGS from 2004 to 2018.
OUTCOME MEASURES
Long-term overall survival and short-term 30/90-day postsurgical mortality, 30-day readmission, and prolonged hospital length of stay.
METHODS
Impact of extent of resection and adjuvant therapy on overall survival was evaluated using Kaplan-Meier estimates and multivariable Cox proportional hazards regression. Univariate and multivariate logistic regression was used to analyze covariables and their prognostic impact on short-term surgical outcomes.
RESULTS
Of the 747 cases that met inclusion criteria, there were 439 astrocytomas, 14 oligodendrogliomas, and 208 glioblastomas. Sixty percent (n=442) of patients received radiation, and 45% (n=324) received chemotherapy. Tumor histology significantly impacted survival; glioblastoma had the poorest survival (median survival time [MS]: 12.3 months), followed by astrocytoma (MS: 70.8 months) and oligodendroglioma (MS: 71.6 months) (p<.001). Gross total resection (GTR) independently conferred a survival benefit in patients with glioblastoma (hazard ratio [HR]: 0.194, p<0.001) and other WHO grade four tumors (HR: 0.223, p=.003). Adjuvant chemotherapy also improved survival in patients with glioblastoma (HR: 0.244, p=.007) and WHO grade four tumors (HR: 0.252, p<.001). Systematic literature review identified 14 prior studies with a combined DGS mortality rate of 1.3%, which is lower than the 4% real-world outcomes calculated from the NCDB. This difference may be explained by selection biases in previously published literature in which only centers with favorable outcomes publish their results.
CONCLUSIONS
There remains a paucity of data regarding treatment paradigms and outcomes for DGS. Our analysis, the largest to date, demonstrates that GTR and adjuvant therapy independently improve survival for certain high-grade subgroups of DGS. This best-available data informs optimal management for such patients.
Topics: Humans; Glioblastoma; Oligodendroglioma; Neurosurgical Procedures; Astrocytoma; Prognosis; Retrospective Studies; Observational Studies as Topic; Multicenter Studies as Topic
PubMed: 36804437
DOI: 10.1016/j.spinee.2023.02.010 -
APMIS : Acta Pathologica,... May 2019Until recently, diagnostics of brain tumors were almost solely based on morphology and immunohistochemical stainings for relatively unspecific lineage markers. Although... (Review)
Review
Until recently, diagnostics of brain tumors were almost solely based on morphology and immunohistochemical stainings for relatively unspecific lineage markers. Although certain molecular markers have been known for longer than a decade (combined loss of chromosome 1p and 19q in oligodendrogliomas), molecular biomarkers were not included in the WHO scheme until 2016. Now, the classification of diffuse gliomas rests on an integration of morphology and molecular results. Also, for many other central nervous system tumor entities, specific diagnostic, prognostic and predictive biomarkers have been detected and continue to emerge. Previously, we considered brain tumors with similar histology to represent a single disease entity. We now realize that histologically identical tumors might show alterations in different molecular pathways, and often represent separate diseases with different natural history and response to treatment. Hence, knowledge about specific biomarkers is of great importance for individualized treatment and follow-up. In this paper we review the biomarkers that we currently use in the diagnostic work-up of brain tumors.
Topics: Astrocytoma; Biomarkers, Tumor; Brain Neoplasms; Ependymoma; Glioma; Humans; Medulloblastoma; Meningioma; Mutation; Oligodendroglioma; Rhabdoid Tumor
PubMed: 30740783
DOI: 10.1111/apm.12916 -
The Spine Journal : Official Journal of... Aug 2022Primary malignant non-osseous spinal tumors are relatively rare and this has led to a paucity of studies specifically examining the epidemiology of malignant spinal...
BACKGROUND CONTEXT
Primary malignant non-osseous spinal tumors are relatively rare and this has led to a paucity of studies specifically examining the epidemiology of malignant spinal tumors.
PURPOSE
To provide an updated and more comprehensive study examining the epidemiology and relative survival of these rare tumors.
STUDY DESIGN/SETTING
Data was retrospectively acquired from the Central Brain Tumor Registry of the United States (CBTRUS).
PATIENT SAMPLE
Primary malignant non-osseous spinal tumor cases diagnosed between 2000 and 2017 in the United States.
OUTCOME MEASURES
Incidence rates (IRs), relative survival rates, and hazard ratios (HR) were measured.
METHODS
IRs were calculated only for histologically-confirmed cases between 2000 and 2017. Relative survival estimates were calculated from survival information on malignant spinal tumors between 2001 and 2016 for death from any cause. Multivariable Cox proportional hazards regression models were constructed to control for age, sex, race, and ethnicity.
RESULTS
From 2000 to 2017, approximately 587 new cases of malignant non-osseous spinal tumors were diagnosed every year in the United States. The overall IR was 0.178 per 100,000 persons. Ependymomas were the most commonly diagnosed tumor in all age groups. The 10-year relative survival rates were 94.1%, 62.1%, 62.0%, and 13.3% for ependymomas, lymphomas, diffuse astrocytomas, and high-grade astrocytomas, respectively. Females have a significantly lower risk of death as compared with males for ependymomas (HR: 0.74, p<.001) and diffuse astrocytomas (HR: 0.70, p=.005). African-Americans have a significantly higher risk of death compared with Caucasians when diagnosed with ependymomas (HR: 1.52, p=.009) or lymphomas (HR: 1.55, p=.009).
CONCLUSION
Primary malignant non-osseous spinal tumors are primarily diagnosed in adulthood or late adulthood. Ependymal tumors are the most commonly diagnosed primary malignant non-osseous spinal tumors and have the highest 10-year relative survival rates. High-grade astrocytomas are rare and portend the worst prognosis.
Topics: Adult; Astrocytoma; Ependymoma; Female; Humans; Lymphoma; Male; Retrospective Studies; Spinal Cord Neoplasms; Spinal Neoplasms; United States
PubMed: 35257840
DOI: 10.1016/j.spinee.2022.02.015