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Frontiers in Oncology 2023The diencephalon is a complex midline structure consisting of the hypothalamus, neurohypophysis, subthalamus, thalamus, epithalamus, and pineal body. Tumors arising from... (Review)
Review
The diencephalon is a complex midline structure consisting of the hypothalamus, neurohypophysis, subthalamus, thalamus, epithalamus, and pineal body. Tumors arising from each of these diencephalic components differ significantly in terms of biology and prognosis. The aim of this comprehensive review is to describe the epidemiology, clinical symptoms, imaging, histology, and molecular markers in the context of the . We will also discuss the current management of each of these tumors.
PubMed: 37519792
DOI: 10.3389/fonc.2023.1180267 -
Neuro-oncology Practice Aug 2023alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described "primary...
BACKGROUND
alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described "primary -associated CNS sarcoma" (DCS). DCS is an extremely aggressive tumor with a distinct methylation signature and a high frequency of co-occurring mutations. However, little is known about its treatment approach and the genomic changes occurring after exposure to chemoradiotherapy.
METHODS
We collected clinical, histological, and molecular data from eight young adults with DCS. Genomic analysis was performed by Next-generation Sequencing (NGS). Subsequently, an additional germline variants analysis was completed. In addition, an NGS analysis on post-progression tumor tissue or liquid biopsy was performed when available. Multiple clinicopathological characteristics, treatment variables, and survival outcomes were assessed.
RESULTS
Median age was 20 years. Most lesions were supratentorial. Histology was classified as fusiform cell sarcomas (50%), undifferentiated (unclassified) sarcoma (37.5%), and chondrosarcoma (12.5%). Germline pathogenic variants were present in two patients, 75% of cases had more than one somatic alteration in , and the most frequent commutation was . Seven patients were treated with surgery, Ifosfamide, Cisplatin, and Etoposide (ICE) chemotherapy and radiotherapy. The objective response was 75%, and the median time to progression (TTP) was 14.5 months. At progression, the most common mutations were in and . Overall survival was 30.8 months.
CONCLUSIONS
DCS is an aggressive tumor with limited therapeutic options that requires a comprehensive diagnostic approach, including molecular characterization. Most cases had mutations in , , and and most alterations at progression were related to , and signaling pathways.
PubMed: 37457227
DOI: 10.1093/nop/npad014 -
Advances in Experimental Medicine and... 2023Pineal region tumors fall into five broad categories: benign pineal region tumors, glial tumors, papillary tumors, pineal parenchymal tumors, and germ cell tumors....
Pineal region tumors fall into five broad categories: benign pineal region tumors, glial tumors, papillary tumors, pineal parenchymal tumors, and germ cell tumors. Genetic and transcriptional studies have identified key chromosomal alterations in germinomas (RUNDC3A, ASAH1, LPL) and in pineocytomas/pineoblastomas (DROSHA/DICER1, RB1). Pineal region tumors generally present with symptoms of hydrocephalus including nausea, vomiting, papilledema, and the classical Parinaud's triad of upgaze paralysis, convergence-retraction nystagmus, and light-near pupillary dissociation. Workup requires neuroimaging and tissue diagnosis via biopsy. In germinoma cases, diagnosis may be made based on serum or CSF studies for alpha-fetoprotein or beta-HCG making the preferred treatment radiosurgery, thereby preventing the need for unnecessary surgeries. Treatment generally involves three steps: CSF diversion in cases of hydrocephalus, biopsy through endoscopic or stereotactic methods, and open surgical resection. Multiple surgical approaches are possible for approach to the pineal region. The original approach to the pineal region was the interhemispheric transcallosal first described by Dandy. The most common approach is the supracerebellar infratentorial approach as it utilizes a natural anatomic corridor for access to the pineal region. The paramedian or lateral supracerebellar infratentorial approach is another improvement that uses a similar anatomic corridor but allows for preservation of midline bridging veins; this minimizes the chance for brainstem or cerebellar venous infarction. Determination of the optimal approach relies on tumor characteristics, namely location of deep venous structures to the tumor along with the lateral eccentricity of the tumor. The immediate post-operative period is important as hemorrhage or swelling can cause obstructive hydrocephalus and lead to rapid deterioration. Adjuvant therapy, whether chemotherapy or radiation, is based on tumor pathology. Improvements within pineal surgery will require improved technology for access to the pineal region along with targeted therapies that can effectively treat and prevent recurrence of malignant pineal region tumors.
Topics: Humans; Pinealoma; Pineal Gland; Brain Neoplasms; Glioma; Hydrocephalus; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 37452938
DOI: 10.1007/978-3-031-23705-8_6 -
Cancers Jun 2023Most of the literature on pineoblastoma consists of case reports and single-institution series. The goal of this systematic review and individual patient data (IPD)... (Review)
Review
Most of the literature on pineoblastoma consists of case reports and single-institution series. The goal of this systematic review and individual patient data (IPD) analysis was to summarize the existing literature, identify factors associated with overall survival (OS), and provide a contemporary update on prognosis for patients with pineoblastoma. Forty-four studies were identified with 298 patients having IPD. Kaplan-Meier analyses were used to report survival outcomes based on age, tumor metastases, extent of resection (EOR), adjuvant therapy, and publication year. Cox regression was performed to identify independent predictors of time to mortality. Multivariable recursive partitioning analysis was used to identify the most important subgroups associated with mortality. Patients were classified based on publication year before and after the last systematic review on this topic (pre-2012 and 2012 onwards) and compared using univariate and multivariable analyses. This study demonstrates that EOR less-than-gross total resection, metastatic presentation, adjuvant chemotherapy without radiation, and tumor presentation in children less than three years old are associated with poorer prognosis. Since 2012, the 5-year actuarial OS has improved from 32.8% to 56.1%, which remained significant even after accounting for EOR, age, and adjuvant therapy. Pineoblastoma remains a severe rare disease, but survival outcomes are improving.
PubMed: 37444483
DOI: 10.3390/cancers15133374 -
Child's Nervous System : ChNS :... Sep 2023Histological and molecular characterization is essential for the diagnosis of pediatric brain tumors. In the pineal region tumors, it is necessary to remove a sufficient... (Review)
Review
Histological and molecular characterization is essential for the diagnosis of pediatric brain tumors. In the pineal region tumors, it is necessary to remove a sufficient tumor volume to make a diagnosis. However, surgery in this region is challenging due to its deep anatomical location and surrounded by critical structures and complex venous system. Knowledge of the anatomy and function of the pineal region and tumor histological types is imperative for the successful management of pineal region tumors. This article describes surgical approaches to pineal tumors, focusing on the occipital transtentorial approach and adding the author's experience to what has been known in the literature. Recent innovations have made this approach more popular and can be applied to occipital fossa lesions.
Topics: Child; Humans; Pinealoma; Brain Neoplasms; Pineal Gland; Neurosurgical Procedures
PubMed: 37436474
DOI: 10.1007/s00381-023-06071-3 -
Medicine Jul 2023Tumors of the pineal region (TPRs) are rare neoplasms that are surgically challenging to resect. Conventional treatment strategies are available, but gamma knife...
Tumors of the pineal region (TPRs) are rare neoplasms that are surgically challenging to resect. Conventional treatment strategies are available, but gamma knife radiosurgery (GKRS) is an alternative approach. This study presents a single-center experience with GKRS performed for TPR with and without histopathological diagnoses. The cases of 25 patients with TPRs treated with GKRS were retrospectively analyzed. Thirteen of these 25 patients had histopathological confirmation, and 13 had elevated serum alpha-fetoprotein and beta-human chorionic gonadotropin levels. The 25 patients had a mean follow-up duration of 61 months. The total response rate to GKRS was 60%, and a 53.8% decrease in the alpha-fetoprotein and beta human chorionic gonadotropin levels was observed. The findings of this study indicate that GKRS is a safe procedure for TPRs, even in the event of insufficient histopathological findings. This treatment approach provides increased Karnofsky performance scores and an extended life expectancy.
Topics: Humans; Follow-Up Studies; Radiosurgery; alpha-Fetoproteins; Pinealoma; Retrospective Studies; Pineal Gland; Brain Neoplasms; Chorionic Gonadotropin; Treatment Outcome
PubMed: 37417623
DOI: 10.1097/MD.0000000000034005 -
Child's Nervous System : ChNS :... Sep 2023
Topics: Child; Humans; Pinealoma; Brain Neoplasms; Pineal Gland
PubMed: 37332043
DOI: 10.1007/s00381-023-06031-x -
Neurology India 2023
Topics: Humans; Sitting Position; Pineal Gland; Pinealoma; Brain Neoplasms
PubMed: 37322735
DOI: 10.4103/0028-3886.378712 -
Advances and Technical Standards in... 2023Posterior tentorial incisura not infrequently requires to be exposed for tumors of pineal gland, pulvinar, midbrain and cerebellum, aneurysms, arteriovenous...
Posterior tentorial incisura not infrequently requires to be exposed for tumors of pineal gland, pulvinar, midbrain and cerebellum, aneurysms, arteriovenous malformations. Residing almost at the center of the brain, this area is almost equal distance to any point on the calvarium behind coronal sutures enabling alternative routes to encounter. Compared to supratentorial routes either subtemporal or suboccipital approach, infratentorial supracerebellar route has several advantages as providing shortest, most direct approach to the lesions of this area without encountering any important arteries and veins. Since its initial description at the early twentieth century, a wide range of complications arising from cerebellar infarction, air embolism, and neural tissue damage have been encountered. Working in a deep, narrow corridor without enough illumination and visibility under very limited anesthesiology support hindered popularization of this approach. In the contemporary era of neurosurgery, advanced diagnostic tools and surgical microscopes with state-of-the-art microsurgery techniques coupled with modern anesthesiology have eliminated almost all drawbacks of infratentorial supracerebellar approach.
Topics: Humans; Neurosurgical Procedures; Pineal Gland; Pinealoma; Veins; Brain Neoplasms
PubMed: 37318569
DOI: 10.1007/978-3-031-28202-7_3 -
Journal of Pediatric Endocrinology &... Aug 2023To present a case of a new pathogenic variant of DICER1.
OBJECTIVES
To present a case of a new pathogenic variant of DICER1.
CASE PRESENTATION
13-year-old female with non-toxic multinodular goiter and ovarian Sertoli-Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.
CONCLUSIONS
Mutations in the gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.
Topics: Female; Humans; Adolescent; Child; Young Adult; Sertoli-Leydig Cell Tumor; Ovarian Neoplasms; Pinealoma; Goiter; Brain Neoplasms; Pineal Gland; Cell Differentiation; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 37307239
DOI: 10.1515/jpem-2023-0149