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Journal of Neuro-oncology Oct 2020Atypical teratoid rhabdoid tumor (ATRT) is a rare, often lethal brain tumor of childhood characterized by a complex epigenetic landscape amongst a simple genetic... (Review)
Review
INTRODUCTION
Atypical teratoid rhabdoid tumor (ATRT) is a rare, often lethal brain tumor of childhood characterized by a complex epigenetic landscape amongst a simple genetic background. Recent molecular studies have defined key biologic events that contribute to tumorigenesis and molecular subtypes of ATRT.
METHODS
Seminal studies on ATRT are reviewed with an emphasis on molecular pathogenesis and its relevance to novel therapeutics.
RESULTS
In this review, we summarize the key clinicopathologic and molecular features of ATRT, completed and ongoing clinical trials and outline the translational potential of novel insights into the molecular pathogenesis of this tumor.
CONCLUSIONS
SMARCB1 loss is the key genetic event in ATRT pathogenesis that leads to widespread epigenetic dysregulation and loss of lineage-specific enhancers. Current work is defining subtype-specific treatments that target underlying molecular derangements that drive tumorigenesis.
Topics: Cell Transformation, Neoplastic; Humans; Neoplasms, Neuroepithelial; Rhabdoid Tumor; Teratoma
PubMed: 33021733
DOI: 10.1007/s11060-020-03639-w -
Child's Nervous System : ChNS :... Jul 2019A 4-year-old girl presented to the hospital with a progressive headache, difficulty walking, and persistent daily vomiting for 3 weeks. Papilledema was observed on... (Review)
Review
A 4-year-old girl presented to the hospital with a progressive headache, difficulty walking, and persistent daily vomiting for 3 weeks. Papilledema was observed on fundoscopic examination. A large left cerebellovermian tumor with "bubbly" appearance was discovered. Total removal of the tumor mass was performed, and a diagnosis of low-grade astroblastoma was made. Adjuvant radiotherapy was performed due to the risk of recurrence. The patient is disease-free and has been kept on close follow-up for 6 months. The occurrence of posterior fossa astroblastoma has been rarely reported in the literature. Thus, when a "bubby" appearance enhancing cystic solid tumor is located on the cerebellar hemisphere in a child, an astroblastoma should also be included in the differential diagnosis.
Topics: Child, Preschool; Diagnosis, Differential; Female; Humans; Infratentorial Neoplasms; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Treatment Outcome
PubMed: 30859299
DOI: 10.1007/s00381-019-04113-3 -
Expert Opinion on Therapeutic Targets Mar 2022
Topics: Humans; Neoplasms, Neuroepithelial; Rhabdoid Tumor; Teratoma
PubMed: 35142587
DOI: 10.1080/14728222.2022.2040017 -
Surgical Pathology Clinics Jun 2020Embryonal tumors of the central nervous system (CNS) are rare, high-grade neoplasms predominantly affecting the pediatric population. Well-defined embryonal tumors... (Review)
Review
Embryonal tumors of the central nervous system (CNS) are rare, high-grade neoplasms predominantly affecting the pediatric population. Well-defined embryonal tumors include medulloblastoma, atypical teratoid/rhabdoid tumor, embryonal tumor with multilayered rosettes, C19MC-altered and embryonal tumor with multilayered rosettes, not otherwise specified, pineoblastoma, pituitary blastoma, CNS neuroblastoma, and ganglioneuroblastoma. Although their prognosis is nearly uniformly poor, the rapidly evolving understanding of their molecular biology contributes to diagnosis, prognosis, treatment, and clinical trial participation. Knowledge of current tumor stratification and diagnostic techniques will help pathologists guide care and preserve tissue for necessary or desired additional testing.
Topics: Central Nervous System Neoplasms; Cerebellar Neoplasms; Humans; Medulloblastoma; Neoplasms, Germ Cell and Embryonal; Prognosis; Rhabdoid Tumor; Teratoma
PubMed: 32389264
DOI: 10.1016/j.path.2020.01.003 -
The Oncologist Oct 2021Glioblastoma (GBM) is the most common primary tumor of the central nervous system. Arising from neuroepithelial glial cells, GBM is characterized by invasive behavior,... (Review)
Review
Glioblastoma (GBM) is the most common primary tumor of the central nervous system. Arising from neuroepithelial glial cells, GBM is characterized by invasive behavior, extensive angiogenesis, and genetic heterogeneity that contributes to poor prognosis and treatment failure. Currently, there are several molecular biomarkers available to aid in diagnosis, prognosis, and predicting treatment outcomes; however, all require the biopsy of tumor tissue. Nevertheless, a tissue sample from a single location has its own limitations, including the risk related to the procedure and the difficulty of obtaining longitudinal samples to monitor treatment response and to fully capture the intratumoral heterogeneity of GBM. To date, there are no biomarkers in blood or cerebrospinal fluid for detection, follow-up, or prognostication of GBM. Liquid biopsy offers an attractive and minimally invasive solution to support different stages of GBM management, assess the molecular biology of the tumor, identify early recurrence and longitudinal genomic evolution, predict both prognosis and potential resistance to chemotherapy or radiotherapy, and allow patient selection for targeted therapies. The aim of this review is to describe the current knowledge regarding the application of liquid biopsy in glioblastoma, highlighting both benefits and obstacles to translation into clinical care. IMPLICATIONS FOR PRACTICE: To translate liquid biopsy into clinical practice, further prospective studies are required with larger cohorts to increase specificity and sensitivity. With the ever-growing interest in RNA nanotechnology, microRNAs may have a therapeutic role in brain tumors.
Topics: Biomarkers, Tumor; Brain Neoplasms; Glioblastoma; Humans; Liquid Biopsy; MicroRNAs; Prognosis
PubMed: 34105205
DOI: 10.1002/onco.13858 -
Annales de Pathologie Dec 2018Astroblastoma is a rare neuroepithelial tumor most commonly seen in children and young adults. Due to its rarity, this tumor can be easily misdiagnosed as its...
Astroblastoma is a rare neuroepithelial tumor most commonly seen in children and young adults. Due to its rarity, this tumor can be easily misdiagnosed as its classification, histogenesis and therapeutic management are still being discussed. We report the case of a 21 year old man, who presented at the Emergency Room for loss of consciousness. He reported a history of headaches, vomiting and decreased visual acuity. The CT and MRI showed a left temporoparietal solid-cystic mass with heterogeneous enhancement and perilesional edema. The patient underwent a total mass resection. On histopathological examination, tumor cells were organized in perivascular pseudorosettes which are typically encountered in astroblastoma, without neither necrosis nor endothelial hyperplasia. They had broad processes and rounded nuclei without any mitotic activity. Immunochemistry stains confirmed the diagnosis by showing a positive reactivity for GFAP, EMA, vimentin and S100. Astroblastoma is a rare glial tumor of uncertain origin. Clinical presentation and imaging are nonspecific. Therefore, its diagnosis is based on histopathologic findings: typical perivascular pseudorosettes. However, similar histological pattern may be seen in other glial neoplasms. In the 2016 WHO Classification, astroblastoma is among the "other glial neoplasms" without a grading system. So far, there are no reliable prognosis factors for this tumor; however, two entities have been described: well differenciated astroblastoma (considered as low grade) and anaplastic/malignant astroblastomas (considered as high grade). Gross total resection is the treatment of choice for astroblastomas. Adjuvant therapy is still controversial. This case illustrates a cerebral tumor which is rarely encountered in practice and that can cause diagnostic problems and subsequently, inadequate treatment.
Topics: Astrocytoma; Biomarkers, Tumor; Diagnosis, Differential; Emergencies; Ependymoma; Glioma; Humans; Magnetic Resonance Imaging; Male; Neoplasms, Neuroepithelial; Neuroimaging; Parietal Lobe; Supratentorial Neoplasms; Temporal Lobe; Tomography, X-Ray Computed; Unconsciousness; Young Adult
PubMed: 30487065
DOI: 10.1016/j.annpat.2018.06.003 -
Seminars in Neurology Aug 2016Novel diagnostic and therapeutic information has had a major impact on the care of patients with high-grade gliomas. These advances and discoveries are highlighted using... (Review)
Review
Novel diagnostic and therapeutic information has had a major impact on the care of patients with high-grade gliomas. These advances and discoveries are highlighted using case-based discussions to focus attention on the important diagnostic and treatment decisions that commonly arise during the care of patients with newly diagnosed glioblastoma, anaplastic astrocytoma, and anaplastic oligodendroglioma.
Topics: Astrocytoma; Brain Neoplasms; Glioblastoma; Glioma; Humans; Oligodendroglioma
PubMed: 27643899
DOI: 10.1055/s-0036-1585427 -
Journal of Cancer Research and... 2015Astroblastoma is a rare neuroepithelial primary brain tumor of uncertain origin. They form 0.45-2.8% of all the neuroglial tumors. This tumor is usually localized in the... (Review)
Review
Astroblastoma is a rare neuroepithelial primary brain tumor of uncertain origin. They form 0.45-2.8% of all the neuroglial tumors. This tumor is usually localized in the cerebral hemisphere of young adults and children. The authors report a case of low-grade astroblastoma in a 16-year-old male and review the relevant literature. The patient presented with 2 months history of progressive headache with projectile vomiting for last 2 months. He underwent gross total resection of the lesion through right temporo-occipital craniotomy. Since tumor showed no evidence of high-grade lesion, adjuvant radiotherapy was not planned. However, the patient developed recurrence of the tumor after 12 months. Localized three-dimensional conformal radiotherapy was planned. In patients harboring anaplastic astroblastoma, gross-total resection and adjuvant therapy after the initial surgery seems to be the best choice. They can be easily misdiagnosed as they are rarely encountered in clinical practice and share common radiological and histopathologic appearance with other glial neoplasms.
Topics: Adolescent; Brain Neoplasms; Humans; Male; Neoplasm Recurrence, Local; Neoplasms, Neuroepithelial; Occipital Lobe; Radiography; Treatment Outcome
PubMed: 26458709
DOI: 10.4103/0973-1482.140800 -
Arquivos de Neuro-psiquiatria Dec 2023Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or...
Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or glioneuronal lineage, are histologically benign (WHO grade1) with a neocortical localization predominantly situated in the temporal lobes. Clinically, chronic refractory epilepsy is usually the unique symptom. Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT) are the most common representative entities besides pilocytic astrocytomas (PA) and angiocentric gliomas (AG). Recent molecular studies have defined new clinicopathological entities, which are recognized by the WHO 2021 classification of brain tumors. Some of them such as diffuse astrocytoma or altered, polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and multilocular and vacuolating neuronal tumor (MVNT) are currently considered LEATs. The relationship between LEATs and epilepsy is still a matter of debate, and there is a general agreement about the beneficial effects of an early neurosurgical intervention on the clinical outcome.
Topics: Adolescent; Young Adult; Humans; Child; Epilepsy; Glioma; Brain Neoplasms; Ganglioglioma; Astrocytoma; Neoplasms, Neuroepithelial
PubMed: 38157880
DOI: 10.1055/s-0043-1777730 -
Der Pathologe Mar 2019Diffuse astrocytic and oligodendroglial gliomas are the most common neuroepithelial tumors. Their classification is based on the integration of histological and... (Review)
Review
BACKGROUND
Diffuse astrocytic and oligodendroglial gliomas are the most common neuroepithelial tumors. Their classification is based on the integration of histological and molecular findings according to the classification of tumors of the central nervous system published by the World Health Organization (WHO) in 2016.
OBJECTIVES
This review describes the different entities and variants of diffuse gliomas and summarizes the current diagnostic criteria for these tumors.
MATERIALS AND METHODS
Based on the 2016 WHO classification and selected other publications, the histomolecular diagnostics of diffuse gliomas is presented and illustrated.
RESULTS
Diffuse gliomas are divided into isocitrate dehydrogenase (IDH)-mutant or IDH-wildtype gliomas by detection of mutations in the IDH1 or IDH2 genes. Among the IDH-mutant gliomas, oligodendroglial tumors are characterized by combined losses of chromosome arms 1p and 19q. Loss of nuclear expression of the ATRX protein is a marker of IDH- mutant astrocytic gliomas. Glioblastoma, IDH-wildtype, is the most common diffuse glioma. Diffuse and anaplastic astrocytic gliomas without IDH mutation should be further evaluated for molecular features of glioblastoma, IDH-wildtype. Diffuse gliomas in the thalamus, brainstem, or spinal cord carrying a histone 3 (H3)-K27M mutation are classified as diffuse midline gliomas, H3-K27M-mutant. By determining the IDH and 1p/19q status, oligoastrocytomas can be stratified into either astrocytic or oligodendroglial gliomas. Gliomatosis cerebri is no longer regarded as a distinct glioma entity.
CONCLUSIONS
Diffuse gliomas can today be classified accurately and reproducibly by means of histological, immunohistochemical, and molecular analyses.
Topics: Brain Neoplasms; Glioma; Humans; Isocitrate Dehydrogenase; Mutation; Oligodendroglioma; X-linked Nuclear Protein
PubMed: 30790013
DOI: 10.1007/s00292-019-0575-6