-
Turkish Neurosurgery 2016Astroblastoma is a rare and distinct type of aggressive glial tumor for which there is much confusion regarding the diagnostic criteria. We present a case of... (Review)
Review
Astroblastoma is a rare and distinct type of aggressive glial tumor for which there is much confusion regarding the diagnostic criteria. We present a case of astroblastoma and review all relevant literature, aiming to discuss astroblastoma from the clinical, pathological, management, and prognostic points of view in an attempt to discover more of its secrets and to introduce a standard approach to its diagnosis and management.
Topics: Adult; Brain Neoplasms; Female; Humans; Male; Neoplasms, Neuroepithelial
PubMed: 27349390
DOI: 10.5137/1019-5149.JTN.9408-13.2 -
Acta Neuropathologica Sep 2023Malignant brain tumors, known as H3K27-altered diffuse midline glioma (DMG) and H3G34-mutant diffuse hemispheric glioma (DHG), can affect individuals of all ages and are...
Malignant brain tumors, known as H3K27-altered diffuse midline glioma (DMG) and H3G34-mutant diffuse hemispheric glioma (DHG), can affect individuals of all ages and are classified as CNS WHO grade 4. We comprehensively characterized 390 H3F3A-mutant diffuse gliomas (201 females, 189 males) arising in pediatric patients (under 20 years old) and adults (20 years and older) evaluated by the CGP program at Foundation Medicine between 2013 and 2020. We assessed information from pathology reports, histopathology review, and clinical data. The cohort included 304 H3K27M-mutant DMG (156 females, 148 males) and 86 H3G34-mutant DHG (45 females, 41 males). Median patient age was 20 years (1-74 years). The frequency of H3K27M-mutant DMG was similar in both pediatric and adult patients in our cohort-48.6% of the patients were over 20 years old, 31.5% over 30, and 18% over 40 at initial diagnosis. FGFR1 hotspot point mutations (N546K and K656E) were exclusively identified in H3K27M-mutant DMG tumors (64/304, 21%; p = 0.0001); these tend to occur in older patients (median age: 32.5 years) and mainly arose in the diencephalon. H3K27M-mutant DMG had higher rates of mutations in NF1 (31.0 vs 8.1%; p = 0.0001) and PIK3CA/PIK3R1 (27.9% vs 15.1%; p = 0.016) compared to H3G34-mutant DHG. However, H3G34-mutant DHG had higher rates of targetable alterations in cell-cycle pathway genes (CDK4 and CDK6 amplification; CDKN2A/B deletion) (27.0 vs 9.0%). Potentially targetable PDGFRA alterations were identified in ~ 20% of both H3G34-mutant DHG and H3K27M-mutant DMG. Overall, in the present study H3K27M-mutant DMG occurred at similar rates in both adult and patient patients. Through our analysis, we were able to identify molecular features characteristic of DMG and DHG. By identifying the recurrent co-mutations including actionable FGFR1 point mutations found in nearly one-third of H3K27M-mutant DMG in young adults, our findings can inform clinical translational studies, patient diagnosis, and clinical trial design.
Topics: Adult; Aged; Child; Female; Humans; Male; Young Adult; Brain Neoplasms; Genomics; Glioma; Histones; Mutation; World Health Organization; Infant; Child, Preschool; Adolescent; Middle Aged
PubMed: 37524847
DOI: 10.1007/s00401-023-02609-6 -
Clinical Neuropathology 2015Astroblastoma is a rare brain tumor occurring in children and adults, rarely in the elderly. It constitutes up to 3% of all brain tumors. We report a case of a... (Review)
Review
Astroblastoma is a rare brain tumor occurring in children and adults, rarely in the elderly. It constitutes up to 3% of all brain tumors. We report a case of a 14-year-old girl who presented with recurrent seizures and minimal right hemiparesis. Magnetic resonance imaging (MRI) revealed a left fronto-parietal brain tumor. It was managed with subtotal resection in a local hospital. Subsequently, she was referred to Princess Nora Oncology Center for further characterization and management. Pathology slide revision revealed well-differentiated astroblastoma. Upon follow up, the patient had multiple recurrences of the same tumor and emergence of a new lesion at the area of Sylvian fissure. Excision of the emerging tumor revealed anaplastic astroblastoma. Astroblastoma is a glial tumor that predominantly affects females. Its clinical progression is unpredictable, with high recurrence rate. Surgical intervention is considered the mainstay of treatment, while radiotherapy and chemotherapy effectiveness is debatable. To our knowledge, this is the first reported case of well-differentiated and anaplastic astroblastoma as two separate neoplastic lesions in the same patient with its clinical, radiological, and pathological features.
Topics: Adolescent; Biomarkers, Tumor; Brain Neoplasms; Female; Glioma; Humans; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Treatment Outcome
PubMed: 26227256
DOI: 10.5414/NP300864 -
Pediatric and Developmental Pathology :... 2018The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene... (Review)
Review
The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene transcription. SMARCB1 acts as a tumor suppressor gene, and loss of function of both alleles gives rise to SMARCB1-deficient tumors. The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT). These are overwhelmingly tumors of the very young, and most follow an aggressive and ultimately lethal course. Morphologically, most but not all contain a population of "rhabdoid" cells, which are large cells with abundant cytoplasm, perinuclear spherical inclusions, and eccentric vesicular nuclei with large inclusion-like nucleoli. MRT immunohistochemistry reveals complete loss of SMARCB1 nuclear expression, and molecular analysis confirms biallelic SMARCB1 inactivation in the vast majority. Rare AT/RTs have loss of SMARCA4, another SWI/SNF member, rather than SMARCB1. With the widespread adoption of SMARCB1 immunohistochemistry, an increasing number of SMARCB1-deficient tumors outside of the MRT-AT/RT spectrum have been described. In addition to MRT and AT/RT, pediatric tumors with complete loss of SMARCB1 expression include cribriform neuroepithelial tumor, renal medullary carcinoma, and epithelioid sarcoma. Tumors with variable loss of SMARCB1 expression include subsets of epithelioid malignant peripheral nerve sheath tumor, schwannomas arising in schwannomatosis, subsets of chordomas, myoepithelial carcinomas, and sinonasal carcinomas. Variable and reduced expression of SMARCB1 is characteristic of synovial sarcoma. In this review, the historical background, clinical characteristics, morphology, immunohistochemical features, and molecular genetics most germane to these tumors are summarized. In addition, familial occurrence of these tumors (the rhabdoid tumor predisposition syndrome) is discussed. It is hoped that this review may provide practical guidance to pathologists encountering tumors that have altered expression of SMARCB1.
Topics: Biomarkers, Tumor; Carcinoma; Child; Chordoma; Diagnosis, Differential; Gene Expression Regulation, Neoplastic; Humans; Kidney Neoplasms; Neoplasms; Neoplasms, Neuroepithelial; Nerve Sheath Neoplasms; Neurilemmoma; Rhabdoid Tumor; SMARCB1 Protein; Sarcoma
PubMed: 29280680
DOI: 10.1177/1093526617749671 -
Indian Journal of Pathology &... May 2022The newest revision of the WHO classification of tumors of the central nervous system, also known as WHO 5 edition, introduces substantial changes, especially within the... (Review)
Review
The newest revision of the WHO classification of tumors of the central nervous system, also known as WHO 5 edition, introduces substantial changes, especially within the glial tumor category and separates adult-type and pediatric-type glial tumors into different categories for the first time. In addition, another category of glial tumors, "Circumscribed Astrocytic Gliomas" were also created. This group includes pilocytic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, chordoid glioma, astroblastoma, and the highly nebulous novel entity high-grade astrocytoma with piloid features. We present a brief and critical review of the pathological and molecular characteristics of these often well-demarcated tumors that can occur in adults as well as in the pediatric population.
Topics: Adult; Astrocytoma; Brain Neoplasms; Child; Glioma; Humans; Precancerous Conditions; World Health Organization
PubMed: 35562132
DOI: 10.4103/ijpm.ijpm_1019_21 -
Acta Neuropathologica Communications Jan 2023Gliomas with FGFR3::TACC3 fusion mainly occur in adults, display pathological features of glioblastomas (GB) and are usually classified as glioblastoma, IDH-wildtype....
BACKGROUND
Gliomas with FGFR3::TACC3 fusion mainly occur in adults, display pathological features of glioblastomas (GB) and are usually classified as glioblastoma, IDH-wildtype. However, cases demonstrating pathological features of low-grade glioma (LGG) lead to difficulties in classification and clinical management. We report a series of 8 GB and 14 LGG with FGFR3:TACC3 fusion in order to better characterize them.
METHODS
Centralized pathological examination, search for TERT promoter mutation and DNA-methylation profiling were performed in all cases. Search for prognostic factors was done by the Kaplan-Meir method.
RESULTS
TERT promoter mutation was recorded in all GB and 6/14 LGG. Among the 7 cases with a methylation score > 0.9 in the classifier (v12.5), 2 were classified as glioblastoma, 4 as ganglioglioma (GG) and 1 as dysembryoplastic neuroepithelial tumor (DNET). t-SNE analysis showed that the 22 cases clustered into three groups: one included 12 cases close to glioblastoma, IDH-wildtype methylation class (MC), 5 cases each clustered with GG or DNET MC but none with PLNTY MC. Unsupervised clustering analysis revealed four groups, two of them being clearly distinct: 5 cases shared age (< 40), pathological features of LGG, lack of TERT promoter mutation, FGFR3(Exon 17)::TACC3(Exon 10) fusion type and LGG MC. In contrast, 4 cases shared age (> 40), pathological features of glioblastoma, and were TERT-mutated. Relevant factors associated with a better prognosis were age < 40 and lack of TERT promoter mutation.
CONCLUSION
Among gliomas with FGFR3::TACC3 fusion, age, TERT promoter mutation, pathological features, DNA-methylation profiling and fusion subtype are of interest to determine patients' risk.
Topics: Adult; Humans; Child; Glioblastoma; Mutation; Glioma; Brain Neoplasms; Prognosis; Ganglioglioma; Epigenesis, Genetic; DNA; Isocitrate Dehydrogenase; Receptor, Fibroblast Growth Factor, Type 3; Microtubule-Associated Proteins
PubMed: 36647073
DOI: 10.1186/s40478-023-01506-z -
Radiographics : a Review Publication of... 2019Germ cell tumors, because they contain immature and mature elements, can differentiate into different tissue types. They can exhibit unusual imaging features or manifest... (Review)
Review
Germ cell tumors, because they contain immature and mature elements, can differentiate into different tissue types. They can exhibit unusual imaging features or manifest in a syndromic fashion. The authors describe these features and assign them to one of the following categories: unusual manifestations of metastatic disease (growing teratoma syndrome, choriocarcinoma syndrome, ossified metastases, and gliomatosis peritonei); autoimmune manifestations (sarcoidlike reaction and paraneoplastic syndromes); endocrine syndromes (sex hormone production, struma ovarii, and struma carcinoid); or miscellaneous conditions (ruptured dermoid cyst, squamous cell carcinoma arising from a mature teratoma, Currarino triad, fetus in fetu, pseudo-Meigs syndrome, and pancreatitis). Rare conditions associated with germ cell tumors demonstrate characteristic imaging findings that can help lead to the appropriate diagnosis and management recommendations. When evaluating for potential metastatic disease, alternative benign diagnoses should be considered (eg, growing teratoma syndrome, ossified metastases, ruptured dermoid cyst, gliomatosis peritonei, and sarcoidlike reaction), which may impact management. Germ cell tumors may also lead to life-threatening complications such as extensive hemorrhage from choriocarcinoma metastases or the rupture of mature teratomas, cases in which timely diagnosis is crucial. Autoimmune and endocrine manifestations such as paraneoplastic encephalitis, autoimmune hemolytic anemia, and hyperthyroidism may occur owing to the presence of germ cell tumors and can create a diagnostic dilemma for clinicians. Knowledge of the syndromic and unusual imaging findings associated with germ cell tumors helps guide appropriate management. RSNA, 2019.
Topics: Anal Canal; Autoimmune Diseases; Carcinoma, Squamous Cell; Choriocarcinoma; Dermoid Cyst; Digestive System Abnormalities; Female; Fetus; Humans; Male; Neoplasms, Germ Cell and Embryonal; Neoplasms, Neuroepithelial; Neoplasms, Second Primary; Ossification, Heterotopic; Pancreatitis; Paraneoplastic Endocrine Syndromes; Paraneoplastic Syndromes; Peritoneal Neoplasms; Positron Emission Tomography Computed Tomography; Pregnancy; Rectum; Sacrum; Syringomyelia; Tomography, X-Ray Computed
PubMed: 31125295
DOI: 10.1148/rg.2019180050 -
Der Pathologe Jun 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: Astrocytes; Brain Neoplasms; Glioma; Humans; Isocitrate Dehydrogenase; Mutation; Oligodendroglioma; X-linked Nuclear Protein
PubMed: 31025086
DOI: 10.1007/s00292-019-0581-8 -
Clinical Neurology and Neurosurgery Oct 2014Astroblastoma is a rare, mostly supratentorial glial tumor, occurring predominantly in children and young adults with female preponderance. Due to the rarity, with only... (Review)
Review
Astroblastoma is a rare, mostly supratentorial glial tumor, occurring predominantly in children and young adults with female preponderance. Due to the rarity, with only about 230 reported cases, treatment strategies are still to be discussed. We describe two more cases to add to the clinical experiences with this tumor entity. In both of these cases, the clinical behavior did not follow the expectations based on histopathological classification. Case 1: A sixteen-year old female presented with a six month history of intermittent headaches, nausea and dizziness. MRI scans revealed a left parietooccipital mass lesion with bubbly contrast enhancement and marked peritumoral edema. After gross total tumor resection the histology gave the diagnosis of low grade astroblastoma. Fifteen months later, the patient was operated on a local recurrence and received postoperative radiotherapy, with the histology still being that of low grade astroblastoma. Two years later, a meningeally based tumor nodule frontal of the former tumor bed was removed, now diagnosed as high grade astroblastoma. Eighteen months later, a fourth operation with excision of two more meningeally based tumor nodules of high-grade astroblastoma followed. Chemotherapy was suggested, but the patient decided against it. The last MRI follow-up 14 months after last operation showed no further recurrence so far. Case 2: A 24-year old female presented with a four week history of vomiting and headaches with focal seizures affecting her left arm. CT and MRI scans revealed a superficial partly cystic right temporal mass lesion with few edema and macrocalcifications and adjacent bone atrophy. Despite dural invasion, total tumor resection could be performed. MRI scans six months later showed no recurrence. The patient refused further MRI controls but did not show any clinical signs or symptoms suggesting tumor recurrence four years after the operation. In order to find more predictive tools that might help to determine the individual clinical course and treatment, we performed a review of the literature, analyzing 29 cases with detailed data on clinical history, MRI/CT characteristics, histopathological subtyping, treatment details and a follow-up of at least 12 months. We found, that low-grade astroblastoma with marked peritumoral edema has a tendency to early recurrence and suggest that it should be treated by combined surgery and radiotherapy. In high-grade astroblastoma with well defined tumor borders and few peritumoral edema, the prognosis may be better than expected for a high-grade glioma, if GTR is possible.
Topics: Adolescent; Brain; Brain Neoplasms; Female; Glioma; Humans; Neoplasm Recurrence, Local; Neoplasms, Neuroepithelial; Treatment Outcome; Young Adult
PubMed: 25108699
DOI: 10.1016/j.clineuro.2014.07.013 -
The British Journal of Radiology Feb 2022The peritoneum is a unique serosal membrane, which can be the site of primary tumors and, more commonly, secondary pathologic processes. Peritoneal carcinomatosis is the... (Review)
Review
The peritoneum is a unique serosal membrane, which can be the site of primary tumors and, more commonly, secondary pathologic processes. Peritoneal carcinomatosis is the most common malignant condition to affect the peritoneal cavity, and the radiologist plays an important role in making the diagnosis and assessing the extent of disease, especially in sites that may hinder surgery. In this review, we address the role of the radiologist in the setting of peritoneal pathology, focusing on peritoneal carcinomatosis as this is the predominant malignant process, followed by revising typical imaging findings that can guide the differential diagnosis.We review the most frequent primary and secondary peritoneal tumor and tumor-like lesions, proposing a systemic approach based on clinical history and morphological appearance, namely distinguishing predominantly cystic from solid lesions, both solitary and multiple.
Topics: Ascites; Ascitic Fluid; Carcinoma; Desmoplastic Small Round Cell Tumor; Diagnosis, Differential; Echinococcosis; Endometriosis; Female; Humans; Lymphangioma; Lymphoma; Magnetic Resonance Imaging; Mesothelioma; Neoplasms, Neuroepithelial; Peritoneal Neoplasms; Peritoneum; Peritonitis; Positron Emission Tomography Computed Tomography; Pseudomyxoma Peritonei; Splenosis; Tomography, X-Ray Computed
PubMed: 34767464
DOI: 10.1259/bjr.20210346