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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 -
Surgical Neurology International 2021The goal of this retrospective study is to present the first epidemiological data on pediatric supratentorial central nervous system (CNS) tumors in Lebanon and to...
BACKGROUND
The goal of this retrospective study is to present the first epidemiological data on pediatric supratentorial central nervous system (CNS) tumors in Lebanon and to review the various surgical management strategies used.
METHODS
We conducted a retrospective case series of all pediatric patients who presented with a supratentorial CNS tumor and underwent surgery at our institution between 2006 and 2016. We collected and analyzed demographic characteristics, tumor location, clinical manifestations, histopathology, and surgical management strategies and outcome, and discussed them after dividing the tumors as per location and in view of published literature.
RESULTS
Ninety-nine children were studied with a male-to-female ratio of 2.3:1 and a mean age of 8.5 years. The most common location was convexity (44%) and included low-grade and high-grade glial tumors, along with other miscellaneous lesions. The next location was sellar/diencephalic (34%), including craniopharyngiomas, hypothalamic/optic pathway/thalamic gliomas, hamartomas, and pituitary/Rathke's cyst, where there was notable use of endoscopic techniques (21%). Tumors in the pineal region (13%) were tectal gliomas, germ cell tumors, and pineoblastomas and were mostly treated endoscopically. The last group was lateral intraventricular tumors (8%) and was mostly choroid plexus lesions and ependymomas. Overall, the surgical objective was achieved in 95% with mild/moderate complications in 17%.
CONCLUSION
A variety of pathologies may affect the pediatric population in the supratentorial region. Different surgical strategies, including microsurgical and endoscopic techniques, may be employed to remove, debulk, or biopsy these tumors depending on their location, suspected diagnosis, prognosis, and the need for treatment of possible associated hydrocephalus.
PubMed: 34221600
DOI: 10.25259/SNI_205_2021 -
Rare Tumors 2021Pineoblastoma is a rare, primitive, and malignant tumor arising from the parenchyma of the pineal gland. It typically metastasizes along the cerebral neural axis, with...
Pineoblastoma is a rare, primitive, and malignant tumor arising from the parenchyma of the pineal gland. It typically metastasizes along the cerebral neural axis, with rare extraneural metastasis and even more rare intraosseous extraneural metastasis. A patient with pineoblastoma, initially treated with chemotherapy, presented 10 years after initial diagnosis with multiple osseous metastases including his pelvis, femur, and vertebrae, and is currently undergoing chemotherapy.
PubMed: 34221289
DOI: 10.1177/2036361320975752 -
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 -
Neurosurgical Focus: Video Jul 2021Pineal region tumors represent a formidable challenge to the neurosurgeon. Choosing the right approach is key to optimizing the extent of resection and minimizing...
Pineal region tumors represent a formidable challenge to the neurosurgeon. Choosing the right approach is key to optimizing the extent of resection and minimizing surgical morbidity. In this video, the authors show an interhemispheric transcallosal approach to a pineal region tumor in a 15-year-old boy. The advantage of this corridor over posterior approaches is that it provides a nice view of the tumor plane with the venous complex, especially while dissecting tumor from the anterior aspect of the internal cerebral veins on their vertical path. Thus, this approach represents a safe and effective alternative for selected pineal tumors. The video can be found here: https://stream.cadmore.media/r10.3171/2021.4.FOCVID2120.
PubMed: 36284903
DOI: 10.3171/2021.4.FOCVID2120 -
Acta Ophthalmologica Feb 2022To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its effect on screening.
METHODS
We updated the search (PubMed and Embase) for published literature as performed by our research group in 2014 and 2019. Trilateral retinoblastoma (TRb) patients were eligible for inclusion if identifiable as unique and the age at which TRb was diagnosed was available. The search yielded 97 new studies. Three new studies and eight new patients were included. Combined with 189 patients from the previous meta-analysis, the database included 197 patients. The main outcome was the percentage of asynchronous TRb in patients diagnosed before and after preset age thresholds of 6 and 12 months of age at retinoblastoma diagnosis.
RESULTS
Seventy-nine per cent of patients with pineoblastoma are diagnosed with retinoblastoma before the age of 12 months. However, baseline MRI screening at time of retinoblastoma diagnosis fails to detect the later diagnosed pineal TRb in 89% of patients. We modelled that an additional MRI performed at the age of 29 months picks up 53% of pineoblastomas in an asymptomatic phase. The detection rate increased to 72%, 87% and 92%, respectively, with 2, 3 and 4 additional MRIs.
CONCLUSIONS
An MRI of the brain in heritable retinoblastoma before the age of 12 months misses most pineoblastomas, while retinoblastomas are diagnosed most often before the age of 12 months. Optimally timed additional MRI scans of the brain can increase the asymptomatic detection rate of pineoblastoma.
Topics: Brain Neoplasms; Early Diagnosis; Humans; Infant; Magnetic Resonance Imaging; Pineal Gland; Pinealoma; Retinal Neoplasms; Retinoblastoma
PubMed: 33939299
DOI: 10.1111/aos.14855 -
Acta Neurochirurgica Jan 2022Pineal region tumours remain challenging neurosurgical pathologies.
BACKGROUND
Pineal region tumours remain challenging neurosurgical pathologies.
METHODS
Detailed anatomical knowledge of the posterior incisural space and its variations is critical. An opaque arachnoidal membrane seals the internal cerebral and basal veins, leading to thalamic, basal ganglia, mesencephalic/pontine infarctions if injured. Medium-size tumours can be removed en-bloc with all traction/manipulation applied on the tumour side, virtually without contact of ependymal surfaces of the pulvinars or third ventricle. Sacrifice of the cerebello-mesencephalic fissure vein may be required.
CONCLUSIONS
The sitting position offers superior anatomical orientation and remains safe with experienced teams. Meticulous microsurgical techniques and detailed anatomical knowledge are likely to secure safe outcomes.
Topics: Cerebral Veins; Humans; Pineal Gland; Sitting Position; Thalamus; Third Ventricle
PubMed: 33934182
DOI: 10.1007/s00701-021-04821-3 -
Acta Neuropathologica Communications Apr 2021Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of...
Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Histopathology showed an embryonal tumor with focal Flexner-Wintersteiner-like rosettes and loss of retinoblastoma protein (RB1) expression by immunohistochemistry. DNA array-based methylation profiling confidently classified the tumor as pineoblastoma group A/intracranial retinoblastoma. The patient was subsequently enrolled on an institutional translational cancer research protocol and underwent comprehensive molecular profiling, including paired tumor/normal exome and genome sequencing and RNA-sequencing of the tumor. Additionally, Pacific Biosciences (PacBio) Single Molecule Real Time (SMRT) sequencing was performed from comparator normal and disease-involved tissue to resolve complex structural variations. RNA-sequencing revealed multiple fusions clustered within 13q14.1-q21.3, including a novel in-frame fusion of RB1-SIAH3 predicted to prematurely truncate the RB1 protein. SMRT sequencing revealed a complex structural rearrangement spanning 13q14.11-q31.3, including two somatic structural variants within intron 17 of RB1. These events corresponded to the RB1-SIAH3 fusion and a novel RB1 rearrangement expected to correlate with the complete absence of RB1 protein expression. Comprehensive molecular analysis, including DNA array-based methylation profiling and sequencing-based methodologies, were critical for classification and understanding the complex mechanism of RB1 inactivation in this diagnostically challenging tumor.
Topics: Brain Neoplasms; Gene Rearrangement; Genes, Retinoblastoma; Humans; Infant; Male; Oncogene Proteins, Fusion; Retinoblastoma; Retinoblastoma Binding Proteins; Ubiquitin-Protein Ligases
PubMed: 33827698
DOI: 10.1186/s40478-021-01164-z -
Current Oncology (Toronto, Ont.) Mar 2021Papillary tumors of the pineal region (PTPR) can be observed among adults with poor prognosis and high recurrence rates. Standards of therapy involve total surgical...
Papillary tumors of the pineal region (PTPR) can be observed among adults with poor prognosis and high recurrence rates. Standards of therapy involve total surgical excision along with radiation therapy, with no promising prospects for primary adjuvant chemotherapy, as long-term treatment options have not been explored. Chromosome 10 loss is characteristic of PTPR, and gene alterations are frequently encountered in a wide range of human cancers and may be treated with mTORC1 inhibitors such as everolimus. In parallel, there are no reports of treating PTPR with everolimus alone as a monopharmacotherapy. We report the case of a patient diagnosed with PTPR (grade III) characterized by a alteration with chromosome 10 loss that was treated with everolimus pharmacotherapy alone, resulting in an asymptomatic course and tumor regression, a rare yet notable phenomenon not described in the literature so far with potential to alter the management approach to patients with PTPR.
Topics: Adult; Brain Neoplasms; Chromosomes, Human, Pair 10; Everolimus; Humans; Neoplasm Recurrence, Local; PTEN Phosphohydrolase; Pineal Gland; Pinealoma
PubMed: 33804593
DOI: 10.3390/curroncol28020121 -
Acta Neuropathologica May 2021Recent genomic studies have shed light on the biology and inter-tumoral heterogeneity underlying pineal parenchymal tumors, in particular pineoblastomas (PBs) and pineal...
Recent genomic studies have shed light on the biology and inter-tumoral heterogeneity underlying pineal parenchymal tumors, in particular pineoblastomas (PBs) and pineal parenchymal tumors of intermediate differentiation (PPTIDs). Previous reports, however, had modest sample sizes and lacked the power to integrate molecular and clinical findings. The different proposed molecular group structures also highlighted a need to reach consensus on a robust and relevant classification system. We performed a meta-analysis on 221 patients with molecularly characterized PBs and PPTIDs. DNA methylation profiles were analyzed through complementary bioinformatic approaches and molecular subgrouping was harmonized. Demographic, clinical, and genomic features of patients and samples from these pineal tumor groups were annotated. Four clinically and biologically relevant consensus PB groups were defined: PB-miRNA1 (n = 96), PB-miRNA2 (n = 23), PB-MYC/FOXR2 (n = 34), and PB-RB1 (n = 25). A final molecularly distinct group, designated PPTID (n = 43), comprised histological PPTID and PBs. Genomic and transcriptomic profiling allowed the characterization of oncogenic drivers for individual tumor groups, specifically, alterations in the microRNA processing pathway in PB-miRNA1/2, MYC amplification and FOXR2 overexpression in PB-MYC/FOXR2, RB1 alteration in PB-RB1, and KBTBD4 insertion in PPTID. Age at diagnosis, sex predilection, and metastatic status varied significantly among tumor groups. While patients with PB-miRNA2 and PPTID had superior outcome, survival was intermediate for patients with PB-miRNA1, and dismal for those with PB-MYC/FOXR2 or PB-RB1. Reduced-dose CSI was adequate for patients with average-risk, PB-miRNA1/2 disease. We systematically interrogated the clinical and molecular heterogeneity within pineal parenchymal tumors and proposed a consensus nomenclature for disease groups, laying the groundwork for future studies as well as routine use in tumor diagnostic classification and clinical trial stratification.
Topics: Adolescent; Adult; Brain Neoplasms; Child; Child, Preschool; Cohort Studies; DNA Methylation; Female; Genome-Wide Association Study; Humans; Infant; Infant, Newborn; Male; Middle Aged; Pineal Gland; Pinealoma; Transcriptome; Young Adult
PubMed: 33619588
DOI: 10.1007/s00401-021-02284-5