scholarly journals Brain tumors in the first two years of life

2021 ◽  
Vol 36 (1) ◽  
Author(s):  
Abdelrhman Enayet
Keyword(s):  
Brain Tumors ◽  
Malignant Tumors ◽  
Pediatric Brain Tumor ◽  
Surgical Excision ◽  
Extent Of Resection ◽  
Histopathological Diagnosis ◽  
Main Body ◽  
Presenting Symptoms ◽  
Ct Brain ◽  
Initial Imaging

Abstract Background Brain tumors in the first years of life are frequently encountered recently with the advancement in neuroimaging, neurosurgery and neuroanethesia where early diagnosis of these lesions became available even before birth. Their management is challenging where the surgery is technically demanding, radiotherapy is omitted in this age because of its late sequelae and chemotherapy role may be beneficial, but it is limited also by its side effects and neurotoxicity. The aim of this article is to review the current literature about the brain tumors in the first two years of life, their diagnosis and treatment. Main body Brain tumors in the first two years of life encompass mainly fetal/congenital tumors and infantile tumors. They account for 1.4–18% of cases of pediatric brain tumor, and most of them are diagnosed in the first year of life. The main histopathologies diagnosed are glial tumors, choroid plexus tumors, medulloblastoma and other embryonal tumors, teratoma and ependymoma. They are mainly supratentorial. Large head and bulging fontanelles are the main presenting symptoms and signs secondary to increased intracranial pressure secondary to large tumors or associated hydrocephalus. Prenatal and postnatal ultrasonography represents the initial imaging step in the diagnosis that should be complemented by MRI and CT brain. The main and first line of treatment of infantile brain tumors is surgical excision as the prognosis is directly related to the extent of resection besides surgery offers specimens for histopathological diagnosis and adjuvant chemotherapy is given for residual irresectable cases and malignant tumors with the main aim to delay radiotherapy beyond the age of three years. Conclusion Brain tumors in the first two years of life are a challenging group of different histopathological entities with underlying specific molecular characterization and genetic predispositions. They have aggressive behavior and general poor prognosis with limited options of management. Individualized multidisciplinary management for each case is needed, and future studies for therapeutic medications targeting underlying molecular biology may improve their outcome.

scholarly journals Dermoid Cyst of the Prepontine Cistern and Meckel's Cave: Illustrative Case and Systematic Review

2017 ◽  
Vol 79 (02) ◽  
pp. 139-150 ◽  
Author(s):  
Lawrance Chung ◽  
Carlito Lagman ◽  
Courtney Duong ◽  
Daniel Nagasawa ◽  
Alexander Tucker ◽  
...  
Keyword(s):  
Systematic Review ◽  
Dermoid Cyst ◽  
Surgical Excision ◽  
Extent Of Resection ◽  
Symptom Improvement ◽  
Illustrative Case ◽  
Recurrence Rates ◽  
Prepontine Cistern ◽  
Presenting Symptoms ◽  
Visual Disturbances

Objective Dermoid cysts are benign, congenital malformations that account for ∼0.5% of intracranial neoplasms. The authors describe a 42-year-old female with a prepontine dermoid cyst who underwent apparent gross total resection (GTR) but experienced cyst recurrence. To date, very few cases of prepontine dermoid cysts have been reported. The prevalent region where these cysts are located can be difficult to determine. In addition, the authors systematically review the literature to characterize the clinical presentation, anatomical distribution, and surgical outcomes of intracranial dermoid cysts. Design Systematic review. Setting/Participants PubMed, Web of Science, and Scopus databases. Main Outcome Measures Extent of resection, symptom improvement, and recurrence rates. Results A total of 69 patients with intracranial dermoid cysts were identified. Three (4.3%) intracranial dermoid cysts were located in the prepontine cistern. The average age of patients was 33.3 years. The most common presenting symptoms were headache (52.2%) and visual disturbances (33.3%). Intracranial dermoid cysts were distributed similarly throughout the anterior, middle, and posterior cranial fossae (29.0%, 36.2%, and 29.0%, respectively). GTR was achieved in 42.0% of cases. Thirty-four (49.3%) patients experienced symptom resolution. Recurrence rate was 5.8% at a mean follow-up of 2.1 years. Conclusions Intracranial dermoid cysts most often present as headaches and visual disturbances. Intracranial dermoid cysts were found in the anterior, middle, and posterior cranial fossae at similar frequencies but with clear predilections for the Sylvian fissure, sellar region, and cerebellar vermis. Outcomes following surgical excision of intracranial dermoid cysts are generally favorable despite moderate rates of GTR.

scholarly journals CLINICO PATHOLOGICAL CORRELATION OF EYELID TUMORS AND THEIR SURGICAL OUTCOME

2021 ◽  
pp. 2890-2895
Author(s):  
Sumit Thakur
Keyword(s):  
Clinical Diagnosis ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Detailed Examination ◽  
Lymph Node Excision ◽  
Excision Biopsy ◽  
Histopathological Diagnosis ◽  
Presenting Symptoms ◽  
Eyelid Tumors ◽  
Lid Reconstruction

Eyelid tumors are the most common neoplasm in daily ophthalmology practice and encompass a wide variety of benign and malignant tumors. The most common presenting symptoms for skin cancer on the eyelids include a mass or tumor, ulceration, or soreness. It is an institution-based study and the patients were recruited from the OPD and Indoor-wards of Aravind Eye Hospital. Each patient was examined by the slit lamp bio-microscope. The size of the tumor is measured with a detailed examination of the tumor-like margin, the involvement of the other adnexal structure, and the lymph node. Excision biopsies were done and send for histopathological examination. Wound closure with lid reconstruction done according to the size and site of the tumor. Out of 66 patients, the clinical diagnosis of 56(85%) patients was correlated with the histopathological diagnosis but in the remaining 10(15%) patients no correlation was found between histopathological and clinical diagnosis. Proper knowledge of the tumor, anatomy of the lid, and history will help in the appropriate diagnosis of eyelid tumor which can be confirmed by histopathological examination. In the present study, tumors were managed with excision biopsy and lid reconstruction was done depending upon the location and extent of the tumor.

scholarly journals A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yiqun Zhang ◽  
Fengju Chen ◽  
Lawrence A. Donehower ◽  
Michael E. Scheurer ◽  
Chad J. Creighton
Keyword(s):  
Brain Tumor ◽  
Brain Tumors ◽  
Tyrosine Kinases ◽  
Pediatric Brain Tumor ◽  
Pediatric Brain Tumors ◽  
Altered Expression ◽  
Critical Pathways ◽  
Cis Regulation ◽  
Or Gene ◽  
Pediatric Brain

AbstractThe global impact of somatic structural variants (SSVs) on gene expression in pediatric brain tumors has not been thoroughly characterised. Here, using whole-genome and RNA sequencing from 854 tumors of more than 30 different types from the Children’s Brain Tumor Tissue Consortium, we report the altered expression of hundreds of genes in association with the presence of nearby SSV breakpoints. SSV-mediated expression changes involve gene fusions, altered cis-regulation, or gene disruption. SSVs considerably extend the numbers of patients with tumors somatically altered for critical pathways, including receptor tyrosine kinases (KRAS, MET, EGFR, NF1), Rb pathway (CDK4), TERT, MYC family (MYC, MYCN, MYB), and HIPPO (NF2). Compared to initial tumors, progressive or recurrent tumors involve a distinct set of SSV-gene associations. High overall SSV burden associates with TP53 mutations, histone H3.3 gene H3F3C mutations, and the transcription of DNA damage response genes. Compared to adult cancers, pediatric brain tumors would involve a different set of genes with SSV-altered cis-regulation. Our comprehensive and pan-histology genomic analyses reveal SSVs to play a major role in shaping the transcriptome of pediatric brain tumors.

scholarly journals Multimodality imaging review of focal renal lesions

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Jonathan Lyske ◽  
Rishi Philip Mathew ◽  
Christopher Hutchinson ◽  
Vimal Patel ◽  
Gavin Low
Keyword(s):  
Malignant Tumors ◽  
Multimodality Imaging ◽  
Lymphoproliferative Disease ◽  
Benign Tumors ◽  
Main Body ◽  
Imaging Features ◽  
Focal Lesions ◽  
Renal Lesions ◽  
Positron Emission ◽  
Neoplastic Lesions

Abstract Background Focal lesions of the kidney comprise a spectrum of entities that can be broadly classified as malignant tumors, benign tumors, and non-neoplastic lesions. Malignant tumors include renal cell carcinoma subtypes, urothelial carcinoma, lymphoma, post-transplant lymphoproliferative disease, metastases to the kidney, and rare malignant lesions. Benign tumors include angiomyolipoma (fat-rich and fat-poor) and oncocytoma. Non-neoplastic lesions include infective, inflammatory, and vascular entities. Anatomical variants can also mimic focal masses. Main body of the abstract A range of imaging modalities are available to facilitate characterization; ultrasound (US), contrast-enhanced ultrasound (CEUS), computed tomography (CT), magnetic resonance (MR) imaging, and positron emission tomography (PET), each with their own strengths and limitations. Renal lesions are being detected with increasing frequency due to escalating imaging volumes. Accurate diagnosis is central to guiding clinical management and determining prognosis. Certain lesions require intervention, whereas others may be managed conservatively or deemed clinically insignificant. Challenging cases often benefit from a multimodality imaging approach combining the morphology, enhancement and metabolic features. Short conclusion Knowledge of the relevant clinical details and key imaging features is crucial for accurate characterization and differentiation of renal lesions.

scholarly journals DIPG-60. PILOT STUDY OF CIRCULATING TUMOR CELLS IN PEDIATRIC HIGH GRADE BRAIN TUMORS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii299-iii299
Author(s):  
Wafik Zaky ◽  
Long Dao ◽  
Dristhi Ragoonanan ◽  
Izhar Bath ◽  
Sofia Yi ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Brain Tumors ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Pediatric Brain Tumor ◽  
Pediatric Brain Tumors ◽  
Disease Assessment ◽  
Liquid Biopsies ◽  
Capture Method ◽  
Pediatric Brain

Abstract BACKGROUND Despite its increasing use, circulating tumor cells (CTCs) have not been studied in pediatric brain tumors. METHODS Cell surface vimentin (CSV) is a marker for CTC detection. We developed an automated CSV-based CTC capture method for pediatric brain tumor using the Abnova Cytoquest platform. PBMCs isolated from blood samples from 52 brain tumor patients were processed to isolate CSV+ CTCs. Captured cells were then stained for CSV and CD45 and scanned to determine the number of CTCs. DIPG samples were additionally examined for H3K27M expression on CSV+ cells. Long term cancer survivors were used as a control cohort. RESULTS 86.4% of all the samples exhibited between 1–13 CSV+ CTCs, with a median of 2 CSV+ CTCs per sample. Using a value of ≥ 1 CTC as a positive result, the sensitivity and specificity of this test was 83.05% and 60.0% respectively. 19 DIPG samples were analyzed and 70% (13 samples) were positive for 1–5 CTCs. Five of these 7 positive CSV+ CTCs DIPG samples were also positive for H3K27M mutations by immunohistochemistry (71%). Mean survival in days for the CTC positive and negative DIPG samples were 114 and 211 days, respectively (p= 0.13). CONCLUSION This is the first study of CTCs in pediatric CNS tumors using an automated approach. Patients with brain tumors can exhibit CSV+ CTCs within peripheral blood. The use of specific molecular markers such as H3K27M can improve the diagnostic capability of liquid biopsies and may enable future disease assessment for personalized therapy.

scholarly journals HGG-43. CONGENITAL GLIOBLASTOMA MULTIFORME: A CASE REPORT OF A RARE PEDIATRIC BRAIN TUMOR, MOLECULAR ANALYSIS, AND REVIEW OF THE LITERATURE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii351-iii351
Author(s):  
Christina Amend ◽  
James Stadler ◽  
Shahriar Salamat ◽  
Erik Dedekam ◽  
Angela Waanders ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Brain Tumors ◽  
Tyrosine Kinase ◽  
Kinase Inhibitors ◽  
Pediatric Brain Tumor ◽  
Review Of The Literature ◽  
Who Grade ◽  
Molecular Features ◽  
Pediatric Brain ◽  
Congenital Brain Tumors

Abstract Congenital brain tumors are rare, accounting for less than 4% of all pediatric brain tumors. Congenital glioblastoma multiforme (GBM) is rarer still, accounting for 3–15% of congenital brain tumors. There is literature to suggest that these tumors differ from pediatric and adult GBM clinically and molecularly, and as such should be treated as their own distinct entity. Our case is a 4 week old male who initially presented to his pediatrician for enlarging head circumference and upward gaze palsy. An MRI was obtained revealing a right parietal mass. He underwent gross total resection the following day with pathology revealing glioblastoma, WHO grade IV. Further analysis revealed ATRX retained, p53 immunoreactivity in 15–20% of nuclei, IDH1 and IDH2 wildtype, MGMT promoter not methylated, H3K27M wildtype, no 1p and/or 19q deletion/codeletion. Interestingly, RNA analysis of his tumor detected the PPP1CB-ALK fusion transcript as well as amplification of the ALK gene. Co-occurrence of these mutations has been reported in a small number of pediatric glioblastoma patients and PPP1CB-ALK fusions are one of the most common receptor tyrosine kinase fusions in infantile gliomas. ALK rearrangements and amplifications suggest a potential therapeutic target with tyrosine kinase inhibitors in glioblastoma. This patient serves as an example of a rare congenital glioblastoma with unique molecular features that may suggest novel treatment opportunities. We present his clinical course along with a pertinent review of the literature.

scholarly journals EPCT-17. A PHASE I AND SURGICAL STUDY OF RIBOCICLIB AND EVEROLIMUS IN CHILDREN WITH RECURRENT OR REFRACTORY MALIGNANT BRAIN TUMORS: PEDIATRIC BRAIN TUMOR CONSORTIUM INTERIM REPORT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii307-iii307
Author(s):  
Mariko DeWire ◽  
Christine Fuller ◽  
Olivia Campagne ◽  
Tong Lin ◽  
Haitao Pan ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Phase I ◽  
Dose Level ◽  
Phase I Study ◽  
Single Agent ◽  
Pediatric Brain Tumor ◽  
Pi3k Pathway ◽  
Neurosurgical Procedures ◽  
Common Grade ◽  
Grade 3

Abstract Genomic aberrations in the cell cycle and PI3K pathway are commonly observed in recurrent childhood brain tumors. Dual inhibition of CDK4/6 (ribociclib) and mTOR (everolimus) has strong biologic rationale, non-overlapping single-agent toxicities, and adult clinical experience. The maximum tolerated dosage (MTD) and/or recommended phase two dose (RP2D) of ribociclib and everolimus was determined in the Phase I study and ribociclib concentrations were characterized in plasma and tumor in children undergoing neurosurgical procedures. Following resection, eligible patients were enrolled in the Phase I study according to a rolling 6 design and received ribociclib and everolimus once daily for 21 days and 28 days, respectively. Patients undergoing surgery received ribociclib at the pediatric RP2D (350 mg/m2/day) for 7–10 days pre-operatively. Pharmacokinetic samples were collected on both cohorts and analyzed in nine patients on phase I study. Sixteen eligible patients enrolled on phase I study (median age 10.3 years; range: 3.9–20.4) and 5 patients were enrolled on the surgical cohort (median age 11.4 years; range: 7.2–17.1). Six patients enrolled at dose level 1 without dose limiting toxicities (DLT). Two of the three patients at dose level 2 experienced DLT (grade 3 hypertension and grade 4 ALT). The most common grade 3/4 toxicities were lymphopenia, neutropenia, and leucopenia. Everolimus concentrations following administration of everolimus alone were lower than those following drug combination, suggesting an impact of ribociclib on everolimus pharmacokinetics. The MTD/RP2D of ribociclib and everolimus in recurrent CNS tumors is 120 mg/m2 and 1.2 mg/ m2 daily for 21 days and 28 days, respectively.

scholarly journals Benign Osteoblastoma Involving Maxilla: A Case Report and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
K. Bokhari ◽  
M. S. Hameed ◽  
M. Ajmal ◽  
Rafi A. Togoo
Keyword(s):  
Case Report ◽  
Surgical Excision ◽  
Good Prognosis ◽  
Histopathological Diagnosis ◽  
Diagnostic Challenge ◽  
Diagnostic Dilemma ◽  
Long Term Follow Up ◽  
Rare Benign Tumor ◽  
Benign Osteoblastoma ◽  
Maxilla And Mandible

Background. Osteoblastoma is a rare benign tumor. This tumor is characterized by osteoid and bone formation with the presence of numerous osteoblasts. The lesion is more frequently seen in long bones and rarely involves maxilla and mandible. Due to its clinical and histological similarity with other bone tumors such as osteoid osteoma and fibro-osseous lesions, osteoblastoma presents a diagnostic dilemma.Case Report. Very few cases of osteoblastomas involving maxillofacial region have been reported in the literature. This case report involves osteoblastoma involving right maxilla in an 18-year-old male patient. Following detailed clinical examination, radiological interpretation, and histopathological diagnosis, surgical excision was performed. The patient was followed up for a period of 3 years and was disease free.Summary and Conclusion. Benign osteoblastoma involving jaw bones is a rare tumor. There is a close resemblance of this tumor with other lesions such as fibro-osseous lesions and odontogenic tumors and thus faces a diagnostic challenge. Surgical excision with a long-term follow-up gives good prognosis to this lesion—Benign Osteoblastoma.

scholarly journals PC3 - 152 Impact of Extent of Resection Upon Outcome in Newly Diagnosed Glioblastoma: A Study in the Molecular Era

2016 ◽  
Vol 43 (S4) ◽  
pp. S17-S18
Author(s):  
W.M.H. Sayeed ◽  
E. Batuyong ◽  
J.C. Easaw ◽  
M. Pitz ◽  
J.J.P. Kelly
Keyword(s):  
Multivariable Analysis ◽  
Extent Of Resection ◽  
Postal Code ◽  
Newly Diagnosed ◽  
Presenting Symptoms ◽  
Tumour Location ◽  
Newly Diagnosed Glioblastoma ◽  
Molecular Marker Analysis

For decades, debate has persisted regarding the role of surgical resection in newly diagnosed glioblastoma. There is increasing evidence that extent of resection (EoR) is an independent prognostic factor. Previous work has proposed the inclusion of EoR in a risk stratification algorithm but does not incorporate account recent advances in the molecular characterization of tumours. We set out to investigate the effect of EoR on overall survival (OS), and to develop a stratification algorithm incorporating both EoR and modern molecular markers for prognostication. HYPOTHESIS: Greater EoR is independently associated with improved OS. METHODS: We examined 190 consecutive cases of histopathologically confirmed newly-diagnosed glioblastoma who were operated upon between January 1, 2012 and December 31, 2014. Variables including age, sex, postal code, KPS, tumour location, presenting symptoms, treatment history, date of progression, date of reoperation, as well as MGMT, IDH, 1p/19q codeletion, and ATRX status were recorded. Preoperative and postoperative MRIs were reviewed and volumetric tumour burden will be analyzed and EoR will be calculated. RESULTS: Preliminary EoR calculations (n=18) show a positive correlation between EoR and OS. CONCLUSION: A correlation exists between EoR and OS, although multivariable analysis is planned to exclude potential confounders. MRI review, chart review including molecular marker analysis and EoR calculations are ongoing.

scholarly journals Proteogenomic Discovery of Neoantigens Facilitates Personalized Multi-antigen Targeted T cell Immunotherapy for Brain Tumors

2021 ◽  
Author(s):  
Samuel Rivero-Hinojosa ◽  
Melanie Grant ◽  
Aswini Panigrahi ◽  
Huizhen Zhang ◽  
Veronika Caisova ◽  
...  
Keyword(s):  
T Cell ◽  
Brain Tumors ◽  
Safety Margin ◽  
Primary Source ◽  
Pediatric Brain Tumor ◽  
Cell Therapies ◽  
Cell Immunotherapy ◽  
Pediatric Brain ◽  
T Cell Immunotherapy

ABSTRACTNeoantigen discovery in pediatric brain tumors is hampered by their low mutational burden and scant tissue availability. We developed a low-input proteogenomic approach combining tumor DNA/RNA sequencing and mass spectrometry proteomics to identify tumor-restricted (neoantigen) peptides arising from multiple genomic aberrations to generate a highly target-specific, autologous, personalized T cell immunotherapy. Our data indicate that novel splice junctions are the primary source of neoantigens in medulloblastoma, a common pediatric brain tumor. Proteogenomically identified tumor-specific peptides are immunogenic and generate MHC II-based T cell responses. Moreover, polyclonal and polyfunctional T cells specific for tumor-specific peptides effectively eliminated tumor cells in vitro. Targeting novel tumor-specific antigens obviates the issue of central immune tolerance while potentially providing a safety margin favoring combination with other immune-activating therapies. These findings demonstrate the proteogenomic discovery of immunogenic tumor-specific peptides and lay the groundwork for personalized targeted T cell therapies for children with brain tumors.

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