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Acta Neuropathologica Dec 2023
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics.
Topics: Humans; Pinealoma; Pineal Gland; Brain Neoplasms
PubMed: 37776353
DOI: 10.1007/s00401-023-02638-1 -
Neuro-Chirurgie 2015
Topics: Brain Neoplasms; Circadian Rhythm; Humans; Pineal Gland; Pinealoma
PubMed: 24951381
DOI: 10.1016/j.neuchi.2013.03.002 -
Child's Nervous System : ChNS :... Feb 2021Intra-axial "pineal region" tumors include pineal, tectal, and aqueductal tumors. All three tumor subgroups cause obstruction of the aqueduct; however, they differ in...
PURPOSE
Intra-axial "pineal region" tumors include pineal, tectal, and aqueductal tumors. All three tumor subgroups cause obstruction of the aqueduct; however, they differ in radiological nuances, pathology, differential diagnosis, and treatment. The goal of this manuscript is to describe the radiological, clinical, and pathological nuances that differentiate between these subgroups.
METHODS
All patients with intra-axial pineal region tumors were analyzed retrospectively, including demographics, radiological characteristics, pathology, treatment, and outcome.
RESULTS
Forty-nine patients (1-69 years of age) were included: 19 pineal, 10 tectal, 10 aqueductal, 4 periaqueductal, and 6 complex. The 3 main subgroups differed in various radiological and anatomical nuances. Age and gender did not differ between groups. Other factors that did not differ between groups included T1 and T2 signals, presence of blood products, a normally located (non-displaced) tectum, anterior tectal displacement, thalamic involvement, and presence of hydrocephalus. The pathological spectrum differed between the 3 main subgroups, as well as the surgical treatment, and outcome.
CONCLUSIONS
Despite sharing a close anatomical location, as well as all causing obstruction of the aqueduct with secondary hydrocephalus, the differential diagnosis, diagnostic methods, and possible treatment and surgical options differ between the various subgroups. Anatomical nuances are described to better delineate the various tumor subgroups and recommend specific treatment approaches.
Topics: Brain Neoplasms; Humans; Hydrocephalus; Magnetic Resonance Imaging; Pineal Gland; Pinealoma; Retrospective Studies
PubMed: 32725465
DOI: 10.1007/s00381-020-04826-w -
Brain Tumor Pathology Oct 2016Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system (CNS) that typically occurs during infancy. These tumors exhibit... (Review)
Review
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system (CNS) that typically occurs during infancy. These tumors exhibit morphologic heterogeneity and differentiate along multiple lineages, thus posing a diagnostic challenge. Here, we present two cases of AT/RT with a primitive neuroectodermal component and histological pattern resembling an embryonal tumor with multilayered rosettes (ETMR), a rare but distinctive embryonal entity with different therapeutic implications. Patient 1, a 23-month-old girl, presented with a history of gait unsteadiness and headache; cranial computed tomography (CT) identified a mass in the pineal and third ventricular regions. Patient 2, a 26-month-old girl, presented with headache and vomiting; CT revealed a mass in the posterior third ventricle. Both patients were treated via gross total tumor resection. Although histologically, AT/RT cases variably comprise primitive neuroectodermal, mesenchymal, and classic rhabdoid cells, the most striking feature of both cases was the presence of multilayered rosettes with a few Homer Wright rosettes and occasional primitive neuroepithelial tubes in focal primitive component areas. Immunohistochemistry revealed considerable heterogeneity within the tumors. We further present our findings in the context of the relevant literature.
Topics: Biomarkers, Tumor; Child, Preschool; Female; Humans; Infant; Magnetic Resonance Imaging; Neoplasms, Multiple Primary; Pineal Gland; Pinealoma; Rhabdoid Tumor; Teratoma; Tomography, X-Ray Computed
PubMed: 27307151
DOI: 10.1007/s10014-016-0267-3 -
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 -
World Neurosurgery Jan 2016Pineal parenchymal tumors of intermediate differentiation (PPTIDs) are rare lesions. The differential diagnosis and management strategy for PPTIDs can be challenging... (Review)
Review
BACKGROUND
Pineal parenchymal tumors of intermediate differentiation (PPTIDs) are rare lesions. The differential diagnosis and management strategy for PPTIDs can be challenging because of the variable prognostic and pathologic characteristics of these tumors.
METHODS
A 24-year-old man presented with progressive headaches, gait abnormalities, and abulia. Magnetic resonance imaging revealed a large T1-hypointense, T2-isointense, contrast-enhancing, partially cystic mass of the pineal and tectal region. Near-total resection was achieved in a 2-stage operation followed by focal and craniospinal irradiation and adjuvant chemotherapy.
RESULTS
Immunohistochemical analysis including use of pineal lineage marker confirmed a diagnosis of PPTID. Targeted exome sequencing showed mutations in TSC1(L388P) and IKZF3(F206C), whereas high-resolution array cytogenetics revealed losses in chromosomes 2, 3, 4, 8, 10, 11, 17, and 20, leading to single-copy loss of PTEN and TP53.
CONCLUSIONS
Pineal parenchymal tumors reflect a broad spectrum of malignancy potential and prognoses, which mandate better understanding of the disease mechanism for rational therapeutic strategies. We present a case of PPTID and report several mutations and chromosomal abnormalities previously unrecognized in this tumor subtype. Review of the literature highlights a need for surgical resection followed by adjuvant chemoradiation. Further investigation of these novel variants may improve understanding of the pathogenesis underlying pineal parenchymal tumors.
Topics: Adult; Cell Transformation, Neoplastic; Chemotherapy, Adjuvant; Chromosome Deletion; Combined Modality Therapy; Cranial Irradiation; DNA Mutational Analysis; Exome; Genetic Markers; Humans; Magnetic Resonance Imaging; Male; PTEN Phosphohydrolase; Pineal Gland; Pinealoma; Prognosis; Tumor Suppressor Protein p53
PubMed: 26226092
DOI: 10.1016/j.wneu.2015.07.032 -
BMJ Case Reports Mar 2022
Topics: Brain Stem Neoplasms; Child; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Glioma; Humans; Pineal Gland; Pinealoma
PubMed: 35272994
DOI: 10.1136/bcr-2022-249232 -
World Neurosurgery Feb 2021Given the rarity of patients with pineal glioblastoma (GBM), clinical characteristics, treatment, and prognostic factors are not well characterized. This study aimed to...
OBJECTIVE
Given the rarity of patients with pineal glioblastoma (GBM), clinical characteristics, treatment, and prognostic factors are not well characterized. This study aimed to investigate these characteristics and identify the prognostic factors of overall survival (OS).
METHODS
A retrospective analysis of newly diagnosed patients with pineal GBM, including our 3 cases and an additional 44 cases from published articles, was conducted. Survival analysis was performed by Kaplan-Meier analysis and Cox regression analysis was used to determine the prognostic factors.
RESULTS
A total of 47 patients (28 males and 19 females) were enrolled, with a median age of 46 years (range, 5-74 years). Forty-four patients (90.9%) had preoperative obstructive hydrocephalus. Among 38 patients, 21 (55.3%) had distal leptomeningeal dissemination. Forty-five patients (95.7%) had resection/biopsy, 6 of whom had gross total resection, 22 had subtotal resection, 7 had partial resection, and 10 had biopsy. Adjuvant therapy included radiotherapy in 36 patients and chemotherapy in 27 patients. The median OS was 10.0 months. The 6-month, 1-year, and 2-year survival was 68.0%, 42.6%, and 17.0%, respectively. Cox regression analysis showed that patients receiving biopsy (P = 0.042) or chemotherapy (P = 0.029) had the better OS and these were regarded as independent prognostic factors. Further survival analysis showed that chemoradiotherapy had better survival benefit than other regimens.
CONCLUSIONS
In this study, we summarized the characteristics of patients with pineal GBM and showed the correlation between clinical characteristics and prognosis. This study may give readers a deep understanding of these rare GBMs and provide some references for future management.
Topics: Adolescent; Adult; Aged; Brain Neoplasms; Chemoradiotherapy, Adjuvant; Chemotherapy, Adjuvant; Child; Child, Preschool; Female; Glioblastoma; Humans; Male; Middle Aged; Neurosurgical Procedures; Pineal Gland; Pinealoma; Prognosis; Proportional Hazards Models; Radiotherapy, Adjuvant; Survival Rate; Young Adult
PubMed: 33186787
DOI: 10.1016/j.wneu.2020.11.016 -
Journal of Neuro-oncology Jan 2024To provide a treatment-focused review and develop basic treatment guidelines for patients diagnosed with pineal anlage tumor (PAT).
PURPOSE
To provide a treatment-focused review and develop basic treatment guidelines for patients diagnosed with pineal anlage tumor (PAT).
METHODS
Prospectively collected data of three patients with pineal anlage tumor from Germany was combined with clinical details and treatment information from 17 published cases.
RESULTS
Overall, 20 cases of PAT were identified (3 not previously reported German cases, 17 cases from published reports). Age at diagnosis ranged from 0.3 to 35.0 (median: 3.2 ± 7.8) years. All but three cases were diagnosed before the age of three years. For three cases, metastatic disease at initial staging was described. All patients underwent tumor surgery (gross-total resection: 9, subtotal resection/biopsy: 9, extent of resection unknown: 2). 15/20 patients were alive at last follow-up. Median follow-up for 10/15 surviving patients with available follow-up and treatment data was 2.4 years (0.3-6.5). Relapse was reported for 3 patients within 0.8 years after diagnosis. Five patients died, 3 after relapse and 2 from early postoperative complications. Two-year-progression-free- and -overall survival were 65.2 ± 12.7% and 49.2 ± 18.2%, respectively. All 4 patients who received intensive chemotherapy including high-dose chemotherapy combined with radiotherapy (2 focal, 2 craniospinal [CSI]) had no recurrence. Focal radiotherapy- and CSI-free survival rates in 13 evaluable patients were 46.2% (6/13) and 61.5% (8/13), respectively.
CONCLUSION
PAT is an aggressive disease mostly affecting young children. Therefore, adjuvant therapy using intensive chemotherapy and considering radiotherapy appears to comprise an appropriate treatment strategy. Reporting further cases is crucial to evaluate distinct treatment strategies.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Young Adult; Brain Neoplasms; Neoplasm Recurrence, Local; Pineal Gland; Pinealoma; Recurrence; Supratentorial Neoplasms; Treatment Outcome
PubMed: 38253790
DOI: 10.1007/s11060-023-04547-5 -
Clinical Neurology and Neurosurgery Feb 2018The aim of the study is to describe types of epileptic seizures in patients with pineal gland cyst (PGC) and their outcome during follow up period (6-10 years). We...
OBJECTIVE
The aim of the study is to describe types of epileptic seizures in patients with pineal gland cyst (PGC) and their outcome during follow up period (6-10 years). We wanted to determine whether patients with epilepsy differ in PGC volume and compression of the PGC on surrounding brain structures compared to patients with PGC, without epilepsy.
PATIENTS AND METHODS
We analyzed prospectivelly 92 patients with PGC detected on magnetic resonance (MR) of the brain due to various neurological symptoms during the period 2006-2010. Data on described compression of the PGC on surrounding brain structures and size of the PGC were collected.
RESULTS
29 patients (16 women, 13 men), mean age 21.17 years had epilepsy and PGC (epilepsy group). 63 patients (44 women, 19 men), mean age 26.97 years had PGC without epilepsy (control group). Complex partial seizures were present in 8 patients, complex partial seizures with secondary generalization in 8 patients, generalized tonic clonic seizures (GTCS) in 10 and absance seizures in 3 patients. Mean PGC volume in epilepsy group was 855.93 mm, in control group 651.59 mm. There was no statistically significant difference between epilepsy and control group in PGC volume. Compression of PGC on surrounding brain structures was found in 3/29 patients (10.34%) in epilepsy group and in 11/63 patients (17.46%) in control group with no statistically significant difference between epilepsy and control group. All patients with epilepsy were put on antiepileptic therapy (AET). During the follow up period, 23 patients (79.31%) were seizure free, 3 patients (13.04%) had reduction in seizure frequency, whereas 3 patients had no improvement in seizure frequency. Two patients from epilepsy group and 3 patients from control group were operated with histologically confirmed diagnosis of PGC in 4, and pinealocytoma in 1 patient.
CONCLUSIONS
In patients with PGC, epileptic seizures were classified as: complex partial seizures (with or without secondary generalization), GTCS and absance seizures. All patients were put on AET. During follow up period 79.31% patients were seizure free. There was no difference in PGC volume, nor in described compression of the PGC on surrounding brain structures between epilepsy and control group. Based on our findings, pathomechanism of epileptic seizures in patients with PGC cannot be attributable solely to PGC volume or described compression on surrounding brain structures based on MRI findings.
Topics: Adolescent; Adult; Anticonvulsants; Central Nervous System Cysts; Child; Epilepsy; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pinealoma; Prospective Studies; Seizures; Treatment Outcome; Young Adult
PubMed: 29324398
DOI: 10.1016/j.clineuro.2017.12.025