-
Folia Neuropathologica 2023BCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain...
BCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and germinoma, to assess a potential involvement of BCOR in these tumours. Levels of BCOR RNA expression were investigated by NanoString nCounter system analysis in a series of altogether 66 high grade paediatric tumours, including four pineoblastoma cases. Immunohistological detection of BCOR was performed in eight pineoblastoma, five germinoma and four atypical teratoid rhabdoid tumours (ATRTs), all located in the pineal region. We detected BCOR expression in all pineoblastomas, at the RNA and protein levels, but not in germinomas and ATRTs. Further analysis of pineoblastoma samples did not reveal the presence of either BCOR internal tandem duplication or BCOR fusion involvement. Positive immunohistological BCOR nuclear reaction in pineoblastoma may therefore differentiate this type of tumour from other high grade tumours located in the pineal region.
Topics: Humans; Child; Pinealoma; Brain Neoplasms; Germinoma; RNA; Rhabdoid Tumor; Pineal Gland; Proto-Oncogene Proteins; Repressor Proteins
PubMed: 37587886
DOI: 10.5114/fn.2023.129377 -
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 -
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 -
Journal of Pediatric Hematology/oncology Jul 2023Although treatment-related secondary malignancies are rare, they are important problems after the treatment of childhood malignant diseases. Irradiation-induced sarcomas...
Although treatment-related secondary malignancies are rare, they are important problems after the treatment of childhood malignant diseases. Irradiation-induced sarcomas are the development of sarcoma different from the primary tumor after a latent period of ≥3 years or more in the radiotherapy field. Desmoid tumor is extremely rare as irradiation-induced tumor. A 7.5-year-old girl was referred to our hospital after a subtotal mass excision for a solid lesion with a cystic component located in the pineal gland. Pathologic examination revealed pineoblastoma. After surgery, craniospinal radiotherapy, and chemotherapy consisting of vincristine, cisplatin, and etoposide were performed. Painless swelling in the left parieto-occipital region ~75 months after the end of the treatment developed in the patient. A mass was detected in the intracranial but extra-axial region by radiologic imaging methods. Due to the total removal of the mass and the absence of a tumor in the surgical margins, she was followed up without additional treatment. The pathologic diagnosis was a desmoid tumor. She was followed up disease free for ~7 years after the primary tumor and ~7 months after the secondary tumor. Treatment-related desmoid tumor development after treatment for a central nervous system tumor in a child is extremely rare.
Topics: Female; Humans; Child; Pinealoma; Brain Neoplasms; Fibromatosis, Aggressive; Pineal Gland; Etoposide; Sarcoma
PubMed: 37278565
DOI: 10.1097/MPH.0000000000002680 -
Cureus May 2023Pineal tumors are quite rare and are fairly aggressive tumors seen in young adults and children. These tumors arise from the pineal region or recess from various types...
Pineal tumors are quite rare and are fairly aggressive tumors seen in young adults and children. These tumors arise from the pineal region or recess from various types of cells in the gland and structures located in close propinquity to the gland. Pineal gland tumors have a heterogeneous spectrum that includes pineal parenchymal tumors (PPTs) and papillary tumors of the pineal region (PTPR). The PPTs are further subclassified into pineocytomas (Grade 1), PPTs of intermediate differentiation (grade 2 or 3), and pineoblastomas (grade 4) based on the World Health Organization (WHO) grades and histopathological features. We discuss the case of an 11-year-old male child who presented with complaints of headache for 15 days, vomiting for seven days, and diplopia for four days. On magnetic resonance imaging (MRI), a soft tissue density lesion was noticed in the posterior third ventricle region. Based on the location and the MRI findings, the differential diagnosis considered were a pineal lesion, a choroid plexus papilloma, or a meningioma. He underwent a right occipital ventriculoperitoneal shunt followed by total excision of the tumor, and the resected specimen was sent for histopathological examination. After pathologic examination, the diagnosis of pineoblastoma (grade 4) with features of a PPT of intermediate differentiation (grades 2-3) was revealed, and the same was confirmed on immunohistochemistry.
PubMed: 37273335
DOI: 10.7759/cureus.38495