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Frontiers in Surgery 2021An endoscope-assisted technique was recently introduced to microsurgery (MS) and may compensate for the disadvantages of MS for deep-seated lesions. This study was...
An endoscope-assisted technique was recently introduced to microsurgery (MS) and may compensate for the disadvantages of MS for deep-seated lesions. This study was performed to identify the effectiveness and safety of endoscopic-assisted microsurgery (EAM) and share our experience of EAM for pediatric cases with pineal region tumors. We retrospectively analyzed the clinical data of consecutive pediatric cases with pineal region tumors treated by EAM or MS from January 2016 to June 2020. These data included the patient population, clinical manifestations, preoperative examination findings, surgical approach, pathological results, and clinical outcomes. The clinical outcomes were analyzed in the EAM group and MS group with a focus on the gross total resection (GTR) rate, postoperative hydrocephalus remission rate, and Karnofsky performance score (KPS). Studies on the surgical management of children with pineal region tumors in the last decade were reviewed. Eighteen children successfully underwent tumor resection via MS ( = 8) or EAM ( = 10). The children's mean age was 11.4 ± 4.7 years, and the male to female ratio was 7:2. Seventeen patients (94.4%) complicated preoperative hydrocephalus, and 16 (88.9%) presented headache with nausea and/or vomiting. The pathological examination revealed germ cell tumors in 11 (61.1%) patients, neuroepithelial tumors in 4 (22.2%) patients, and a pineoblastoma, arachnoid cyst, and atypical teratoid rhabdoid tumor in 1 (5.6%) patient each. GTR was more commonly achieved in the EAM than MS group (80.0 vs. 50.0%, respectively), and the postoperative hydrocephalus remission rate was higher in the EAM than MS group (87.5 vs. 50.0%, respectively). At a mean follow-up time of 23.6 ± 11.5 weeks, the mean improvement of the KPS 6 months postoperatively was greater in the EAM than MS group (24.0 ± 9.7 vs. 17.5 ± 7.1 points, respectively). EAM combines endoscopic and microsurgical techniques and can be safely and effectively performed to achieve GTR of pineal region tumors in pediatric patients. In children with pineal region tumors who have obstructive hydrocephalus, EAM could improves hydrocephalus remission rates by checking and clearing the midbrain aqueduct under visualization.
PubMed: 34414209
DOI: 10.3389/fsurg.2021.641196 -
Neurosurgical Focus: Video Jul 2021The authors present a pediatric case of a pineoblastoma treated with gross-total removal through an occipital interhemispheric transtentorial approach (OITA). The child...
The authors present a pediatric case of a pineoblastoma treated with gross-total removal through an occipital interhemispheric transtentorial approach (OITA). The child presented with acute hydrocephalus that was treated by endoscopic third ventriculostomy (ETV) and tumor biopsy through a single burr hole. Histology revealed a pineoblastoma. Microsurgical total removal was performed 3 months after neoadjuvant chemotherapy. OITA was chosen on the basis of the tumor's location below the Herophilus-Galen line of sight. In this video, the authors show the positioning, the operating devices, the approach, and the microsurgical dissection, indicating all the neurovascular structures encountered. The video can be found here: https://stream.cadmore.media/r10.3171/2021.4.FOCVID2122.
PubMed: 36284905
DOI: 10.3171/2021.4.FOCVID2122 -
Journal of Neurosurgery. Case Lessons Apr 2022Pineoblastomas are a rare and aggressive pediatric neuroectodermal tumor subtype. Because of their rarity, pineoblastomas are still poorly understood, and there is...
BACKGROUND
Pineoblastomas are a rare and aggressive pediatric neuroectodermal tumor subtype. Because of their rarity, pineoblastomas are still poorly understood, and there is little research delineating their molecular development and underlying genetic phenotype. Recent multiomic studies in pineoblastomas and pineal parenchymal tumors identified four clinically and biologically relevant consensus groups driven by signaling/processing pathways; however, molecular level alterations leading to these pathway changes are yet to be discovered, hence the importance of individually profiling every case of this rare tumor type.
OBSERVATIONS
The authors present the comprehensive somatic genomic profiling of a patient with pineoblastoma presenting with the loss of protein polybromo-1 (PBRM1) as a candidate genomic driver. Loss of PBRM1, a tumor suppressor, has been reported as a driver event in various cancer types, including renal cell carcinoma, bladder carcinoma, and meningiomas with papillary features.
LESSONS
This is the first report presenting biallelic loss of PBRM1 as a candidate molecular driver in relation to pineoblastoma.
PubMed: 36303510
DOI: 10.3171/CASE2213 -
Digital Journal of Ophthalmology : DJO Jun 2021
Topics: Adult; Humans; Magnetic Resonance Imaging; Male; Neoplasms, Germ Cell and Embryonal; Nystagmus, Pathologic; Pinealoma; Pituitary Neoplasms; Radiotherapy Dosage; Radiotherapy, Conformal; Visual Fields
PubMed: 34512208
DOI: 10.5693/djo.02.2020.12.002 -
Frontiers in Oncology 2020Pineoblastoma (PB) is a rare neoplasm of the central nervous system. This analysis aimed to identify factors and establish a predictive model for the prognosis of adult...
Pineoblastoma (PB) is a rare neoplasm of the central nervous system. This analysis aimed to identify factors and establish a predictive model for the prognosis of adult patients with PB. Data for 213 adult patients with PB (Surveillance, Epidemiology, and End Results database) were randomly divided into primary and validation cohorts. A predictive model was established and optimized based on the Akaike Information Criterion and visualized by a nomogram. Its predictive performance (concordance index and receiver operating characteristic curve) and clinical utility (decision curve analyses) were evaluated. We internally and externally validated the model using calibration curves. Multivariate Cox regression analysis identified age, year of diagnosis, therapy, tumor size, and tumor extension as independent predictors of PB. The model exhibited great discriminative ability (concordance index of the nomogram: 0.802; 95% confidence interval: 0.78-0.83; area under the receiver operating characteristic curve: ranging from 0.7 to 0.8). Calibration plots (probability of survival) showed good consistency between the actual observation and the nomogram prediction in both cohorts, and the decision curve analyses demonstrated great clinical utility of the nomogram. The nomogram is a useful and practical tool for evaluating prognosis and determining appropriate therapy strategies.
PubMed: 32793463
DOI: 10.3389/fonc.2020.01021 -
Radiation Oncology (London, England) Sep 2014Standard treatment strategies for embryonal central nervous system (CNS) tumors have not yet been established. We treated these tumors using an original chemoradiation...
BACKGROUND
Standard treatment strategies for embryonal central nervous system (CNS) tumors have not yet been established. We treated these tumors using an original chemoradiation therapy protocol; the clinical outcomes and toxicities were retrospectively evaluated.
METHODS
Twenty-four patients were enrolled including sixteen with medulloblastoma, four with supratentorial primitive neuroectodermal tumor (sPNET), three with atypical teratoid/rhabdoid tumor, and one with pineoblastoma. Immediately after diagnosis, all patients underwent surgery initially. They were then categorized as high- or average-risk groups independent of tumor type/pathogenesis. The average-risk group included patients who were aged ≥3 years at diagnosis, had non-metastatic disease at diagnosis (M0), and had undergone gross total resection. Other patients were categorized as the high-risk group; this group received more intensive treatment than the average-risk group, including high-dose chemotherapy with autologous stem-cell transplantation. All patients received craniospinal irradiation (CSI). The CSI dose was 23.4 Gy for M0 patients aged ≥5 years, 18 Gy for M0 patients aged <5 years, and 30-36 Gy for all patients with M + disease. The total dose to the primary tumor bed was 54 Gy.
RESULTS
The median follow-up time was 73.5 (range, 19-118) months. The 5-year progression-free survival (PFS) and overall survival (OS) rates were 71.1 and 88.9%, respectively in the average-risk group (n = 9) and 66.7 and 71.1%, respectively in the high-risk group (n = 15). The PFS and OS rates were not significantly different between the average- and high-risk groups. In patients with medulloblastoma only, these rates were also not significantly different between the average- and high-risk groups. Three of four patients with sPNET were disease free. The height standard deviation score (SDS) was significantly decreased at the last assessment relative to that at diagnosis (P < 0.0001). The latest median height SDS was -1.6 (range, 0.9 to -4.8), and the latest median full-scale intelligence quotient (FSIQ) score was 86 (range, 59-128). The CSI doses and age at the start of radiation therapy did not influence clinical outcomes, height SDSs, and FSIQ scores.
CONCLUSIONS
Our original protocol for patients with embryonal CNS tumors was feasible and yielded favorable clinical outcomes.
Topics: Adolescent; Central Nervous System Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Disease-Free Survival; Female; Humans; Infant; Kaplan-Meier Estimate; Male; Neoplasms, Germ Cell and Embryonal; Treatment Outcome
PubMed: 25209395
DOI: 10.1186/1748-717X-9-201 -
World Neurosurgery May 2023Obtaining a prompt diagnosis, avoiding indwelling ventriculoperitoneal shunt, and enhancing the predictive value of pathologic examinations are only some of the... (Review)
Review
Obtaining a prompt diagnosis, avoiding indwelling ventriculoperitoneal shunt, and enhancing the predictive value of pathologic examinations are only some of the advantages conferred by a simultaneous third ventriculostomy and tumor biopsy in patients with pineal region tumors. The objective of this study was to retrospectively search the literature on concomitant, single burr hole endoscopic third ventriculostomy (ETV) and tumor biopsy (TB) for pineal region tumors and to analyze the feasibility, surgical safety, and benefits of these 2 combined procedures. Consequently, a comprehensive, systematic literature search was performed in compliance with the updated PRISMA 2020 guidelines within electronic databases MEDLINE/PubMed, EMBASE, PLOS, and Cochrane Library. Statistical analysis was performed with IBM SPSS 28.0.1.1(14), using Kendall's and Spearman's tests, with a P < 0.05 considered significant. A total of 25 studies were selected and included in this review, for a total of 368 patients (mean age 20.6 years; range 1-86 years; SD 17.5). More than two-thirds of the procedures were operated with a rigid endoscope and 27.6% were performed with either a flexible endoscope, a combination of the 2, or not otherwise specified. Germinoma represented the most frequent diagnosis (20.1%) followed by astrocytoma (12.9%) and pineocytoma (9.9%). The single-entry approach allowed a correct histologic diagnosis in 88.7% of the examined cases. Summing up, concomitant ETV and TB represent a valuable option for the management of non-communicating hydrocephalus and the initial assessment of pineal region tumors. The histologic confirmation rate was 88.7% in the examined cohort, with only 10% of the biopsies yielding inconclusive results.
Topics: Humans; Young Adult; Adult; Ventriculostomy; Retrospective Studies; Feasibility Studies; Third Ventricle; Pineal Gland; Pinealoma; Neuroendoscopy; Biopsy; Hydrocephalus; Brain Neoplasms
PubMed: 36764448
DOI: 10.1016/j.wneu.2023.01.082 -
Ophthalmology. Retina Aug 2021
Topics: Adult; Biopsy; Brain; Female; Humans; Magnetic Resonance Imaging; Neoplasm Staging; Pregnancy; Pregnancy Complications, Neoplastic; Retina; Retinal Neoplasms; Retinoblastoma; Ultrasonography
PubMed: 33373716
DOI: 10.1016/j.oret.2020.12.017 -
Neuro-oncology Advances 2022
PubMed: 35821675
DOI: 10.1093/noajnl/vdac092 -
BioRxiv : the Preprint Server For... Apr 2024Mutations in the microRNA processing genes and drive several cancers that resemble embryonic progenitors. To understand how microRNAs regulate tumorigenesis, we...
Mutations in the microRNA processing genes and drive several cancers that resemble embryonic progenitors. To understand how microRNAs regulate tumorigenesis, we ablated or in the developing pineal gland to emulate the pathogenesis of pineoblastoma, a brain tumor that resembles undifferentiated precursors of the pineal gland. Accordingly, these mice develop pineal tumors marked by loss of microRNAs, including the let-7/miR-98-5p family, and de-repression of microRNA target genes. Pineal tumors driven by loss of or mimic tumors driven by loss, as they exhibit upregulation of S-phase genes and homeobox transcription factors that regulate pineal development. Blocking proliferation of these tumors facilitates expression of pinealocyte maturation markers, with a concomitant reduction in embryonic markers. Select embryonic markers remain elevated, however, as the microRNAs that normally repress these target genes remain absent. One such microRNA target gene is the oncofetal transcription factor , which regulates expression of pro-growth genes, and inhibiting their signaling impairs tumor growth. Thus, we demonstrate that tumors driven by loss of microRNA processing may be therapeutically targeted by inhibiting downstream drivers of proliferation.
PubMed: 38712047
DOI: 10.1101/2024.04.23.590638