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Diagnostics (Basel, Switzerland) Apr 2022Primary brain tumors are the most common solid neoplasms in children and a leading cause of mortality in this population. MRI plays a central role in the diagnosis,... (Review)
Review
Primary brain tumors are the most common solid neoplasms in children and a leading cause of mortality in this population. MRI plays a central role in the diagnosis, characterization, treatment planning, and disease surveillance of intracranial tumors. The purpose of this review is to provide an overview of imaging methodology, including conventional and advanced MRI techniques, and illustrate the MRI appearances of common pediatric brain tumors.
PubMed: 35454009
DOI: 10.3390/diagnostics12040961 -
Pediatrics in Review Sep 2021Spinal cord diseases in pediatric patients are highly variable in terms of presentation, pathology, and prognosis. Not only do they differ with respect to each other but... (Review)
Review
Spinal cord diseases in pediatric patients are highly variable in terms of presentation, pathology, and prognosis. Not only do they differ with respect to each other but so too with their adult equivalents. Some of the most common diseases are autoimmune (ie, multiple sclerosis, acute disseminated encephalomyelitis, and acute transverse myelitis), congenital (ie, dysraphism with spina bifida, split cord malformation, and tethered cord syndrome), tumor (ie, juvenile pilocytic astrocytoma, ependymoma, and hem-angioblastoma), and vascular (ie, cavernous malformations, arteriovenous malformations, and dural arteriovenous fistulas) in nature. These each require their own niche treatment paradigm and prognosis. Furthermore, presentation of different spinal cord diseases in children can be difficult to discern without epidemiologic and imaging data. Interpretation of these data is crucial to facilitating a timely and accurate diagnosis. Correspondingly, the aim of this review was to highlight the most pertinent features of the most common spinal cord diseases in the pediatric population.
Topics: Adult; Child; Encephalomyelitis, Acute Disseminated; Humans; Magnetic Resonance Imaging; Myelitis, Transverse; Neural Tube Defects; Spinal Cord; Spinal Cord Diseases; Spinal Dysraphism
PubMed: 34470868
DOI: 10.1542/pir.2020-000661 -
World Neurosurgery Apr 2016The posterior fossa is the site of many types of tumors, and brain metastases are the most common malignancies in that location among adults. Other brain tumors, such as... (Review)
Review
BACKGROUND
The posterior fossa is the site of many types of tumors, and brain metastases are the most common malignancies in that location among adults. Other brain tumors, such as ependymomas, medulloblastomas, and juvenile pilocytic astrocytomas, mostly occur during childhood and are relatively rare in adults. Most primary malignant brain tumors, such as gliomas and lymphomas, tend to be located in the supratentorial compartment.
METHODS
This review summarizes prognostic factors, therapeutic management, and molecular data of intra-axial posterior fossa tumors in adults, including ependymomas, medulloblastomas, and pilocytic astrocytomas.
RESULTS
The literature on intra-axial posterior fossa tumors in adults relies mainly on limited retrospective clinical studies, and such studies employ a wide range of treatment approaches that are usually based on therapies developed specifically for children or for supratentorial brain tumors.
CONCLUSIONS
The clinical course and surgical outcome of adult patients with intra-axial brain tumors in the posterior fossa are summarized in this review. The prognostic factors and therapeutic management of patients with these tumors are controversial because of their rarity, their heterogeneity, and the lack of sufficient data in the literature.
Topics: Biomarkers, Tumor; Evidence-Based Medicine; Female; Humans; Infratentorial Neoplasms; Male; Treatment Outcome
PubMed: 26743385
DOI: 10.1016/j.wneu.2015.12.066 -
Seminars in Pediatric Neurology May 2017Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the... (Review)
Review
Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types-medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes. The rate of long-term strabismus (25%-29.1%) and nystagmus (12.5%-18%) is higher and associated with significant morbidity.
Topics: Astrocytoma; Child; Ependymoma; Eye Movements; Humans; Infratentorial Neoplasms; Medulloblastoma; Visual Perception
PubMed: 28941523
DOI: 10.1016/j.spen.2017.04.007 -
Journal of Neuro-oncology Mar 2023To assess survival and neurological outcomes for patients who underwent primary or salvage stereotactic radiosurgery (SRS) for infratentorial juvenile pilocytic...
PURPOSE
To assess survival and neurological outcomes for patients who underwent primary or salvage stereotactic radiosurgery (SRS) for infratentorial juvenile pilocytic astrocytomas (JPA).
METHODS
Between 1987 and 2022, 44 patients underwent SRS for infratentorial JPA. Twelve patients underwent primary SRS and 32 patients underwent salvage SRS. The median patient age at SRS was 11.6 years (range, 2-84 years). Prior to SRS, 32 patients had symptomatic neurological deficits, with ataxia as the most common symptom in 16 patients. The median tumor volume was 3.22 cc (range, 0.16-26.6 cc) and the median margin dose was 14 Gy (range, 9.6-20 Gy).
RESULTS
The median follow-up was 10.9 years (range, 0.42-26.58 years). Overall survival (OS) after SRS was 97.7% at 1-year, and 92.5% at 5- and 10-years. Progression free survival (PFS) after SRS was 95.4% at 1-year, 79.0% at 5-years, and 61.4% at 10-years. There is not a significant difference in PFS between primary and salvage SRS patients (p = 0.79). Younger age correlated with improved PFS (HR 0.28, 95% CI 0.063-1.29, p = 0.021). Sixteen patients (50%) had symptomatic improvements while 4 patients (15.6%) had delayed onset of new symptoms related to tumor progression (n = 2) or treatment related complications (n = 2). Tumor volumetric regression or disappearance after radiosurgery was found in 24 patients (54.4%). Twelve patients (27.3%) had delayed tumor progression after SRS. Additional management of tumor progression included repeat surgery, repeat SRS, and chemotherapy.
CONCLUSIONS
SRS was a valuable alternative to initial or repeat resection for deep seated infratentorial JPA patients. We found no survival differences between patients who had primary and salvage SRS.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Treatment Outcome; Radiosurgery; Brain Neoplasms; Astrocytoma; Progression-Free Survival; Retrospective Studies; Follow-Up Studies
PubMed: 36894718
DOI: 10.1007/s11060-023-04277-8 -
Klinische Padiatrie Nov 2014Neurofibromatosis type 1 (NF1) is a frequent neurocutaneous syndrome that predisposes for various benign and malignant tumors. Most characteristic are neurofibromas... (Review)
Review
Neurofibromatosis type 1 (NF1) is a frequent neurocutaneous syndrome that predisposes for various benign and malignant tumors. Most characteristic are neurofibromas which occur in almost all NF1 patients at some point in lifetime. Although neurofibromas are benign tumors they can be disfiguring and plexiform neurofibromas may progress to malignant peripheral nerve sheath tumors. Overall survival rates of patients with these malignant tumors are poor. Other neoplasias frequently observed in NF1 patients are pilocytic astrocytomas, gastrointestinal stromal tumors, pheochromocytomas and juvenile myelomonocytic leukemia. Several other tumors have been reported in NF1 patients but it is unclear if there is a true association between the particular tumor type and NF1. Some of these tumors might be caused by a rare recessively inherited childhood cancer syndrome termed constitutive mismatch repair deficiency syndrome which shows certain phenotypic overlap with NF1 but includes a broad spectrum of tumors which usually do not occur in NF1. The development of NF1-associated tumors is largely explained by the underlying defect of the NF1 gene which results in activation of the RAS proto-oncogene- a key mechanism of tumorigenesis. Several downstream effectors of activated RAS as well as cooperating molecular pathways have been identified. These insights provide the basis to develop novel targeted treatment strategies which are urgently needed to improve the outcome for patients with NF1-associated malignancies.
Topics: Cell Transformation, Neoplastic; Child; DNA Mismatch Repair; Disease Progression; Genes, Neurofibromatosis 1; Humans; Neoplasms, Multiple Primary; Neurofibromatosis 1; Prognosis; Proto-Oncogene Mas; Proto-Oncogene Proteins p21(ras); Survival Rate; Transcriptional Activation
PubMed: 25062113
DOI: 10.1055/s-0034-1382021 -
BMC Cancer Dec 2022Juvenile Pilocytic Astrocytomas (JPAs) are one of the most common pediatric brain tumors, and they are driven by aberrant activation of the mitogen-activated protein...
BACKGROUND
Juvenile Pilocytic Astrocytomas (JPAs) are one of the most common pediatric brain tumors, and they are driven by aberrant activation of the mitogen-activated protein kinase (MAPK) signaling pathway. RAF-fusions are the most common genetic alterations identified in JPAs, with the prototypical KIAA1549-BRAF fusion leading to loss of BRAF's auto-inhibitory domain and subsequent constitutive kinase activation. JPAs are highly vascular and show pervasive immune infiltration, which can lead to low tumor cell purity in clinical samples. This can result in gene fusions that are difficult to detect with conventional omics approaches including RNA-Seq.
METHODS
To this effect, we applied RNA-Seq as well as linked-read whole-genome sequencing and in situ Hi-C as new approaches to detect and characterize low-frequency gene fusions at the genomic, transcriptomic and spatial level.
RESULTS
Integration of these datasets allowed the identification and detailed characterization of two novel BRAF fusion partners, PTPRZ1 and TOP2B, in addition to the canonical fusion with partner KIAA1549. Additionally, our Hi-C datasets enabled investigations of 3D genome architecture in JPAs which showed a high level of correlation in 3D compartment annotations between JPAs compared to other pediatric tumors, and high similarity to normal adult astrocytes. We detected interactions between BRAF and its fusion partners exclusively in tumor samples containing BRAF fusions.
CONCLUSIONS
We demonstrate the power of integrating multi-omic datasets to identify low frequency fusions and characterize the JPA genome at high resolution. We suggest that linked-reads and Hi-C could be used in clinic for the detection and characterization of JPAs.
Topics: Child; Adult; Humans; Multiomics; Proto-Oncogene Proteins B-raf; Oncogene Proteins, Fusion; Astrocytoma; Brain Neoplasms; Receptor-Like Protein Tyrosine Phosphatases, Class 5
PubMed: 36503484
DOI: 10.1186/s12885-022-10359-z -
La Clinica Terapeutica 2022Histograms can be determined throughout tumors, relying partly on existing tumor microstructure knowledge and the sampling effect from area of interest analyses. We...
PURPOSE
Histograms can be determined throughout tumors, relying partly on existing tumor microstructure knowledge and the sampling effect from area of interest analyses. We aimed to investigate the impact of ADC histogram parameters in discriminating medulloblastoma, ependymoma, and pilocytic astrocytoma.
METHODS
This study received approval from the Institutional Ethics Review Committee of Children's Hospital 02. Processes were conducted according to relevant laws and regulations, and requirements for written informed consent were fulfilled. The study involved 24 patients at Children's Hospital 02 from February-December 2019. Group 1 included 12 children with medulloblastoma, group 2 included 5 with ependymoma, and group 3 included 7 with pilocytic astrocytoma. All patients underwent MRI followed by surgery or biopsy to obtain histopathological confirmations.
RESULTS
Our analysis indicated that AUC, sensitivity, and specificity were 96.7%, 91.7%, and 100%, respectively when ADCkurtosis (cut-off point = 2.34) was taken to differentiate between medulloblasto-mas and ependymomas. To distinguish between medulloblastomas and pilocytic astrocytomas, the cut-off points of ADCmean, ADCmedian, ADCmax, ADCmin, rADCmean, rADCmax, and rADCmin of 0.985, 0.910, 1.305, 0.710, 1.349, 1.738, and 1.251, were taken respectively with AUC, sensitivity, and specificity elicited at 100%. To discriminate between ependymomas and pilocytic astrocytomas, the cut-off points of ADCmean, ADCmedian, ADCmax, ADCmin, rADCmean, rADC-median, rADCmax and rADCmin were 1.010, 0.930, 1.270, 0.735, 1.346, 1.324, 1.676, and 1.273, respectively, with AUC, sensitivity, and specificity at 100%.
CONCLUSION
ADC histograms can facilitate differentiation among juvenile medulloblastoma, ependymoma, and pilocytic astrocytoma, providing reliable, objective evidence of tumor differentiation.
Topics: Astrocytoma; Cerebellar Neoplasms; Child; Diffusion Magnetic Resonance Imaging; Ependymoma; Humans; Medulloblastoma; Retrospective Studies
PubMed: 35857056
DOI: 10.7417/CT.2022.2448 -
Cancers Dec 2023Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first...
Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded.
PubMed: 38201471
DOI: 10.3390/cancers16010043