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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 -
Ryoikibetsu Shokogun Shirizu 2000
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Neurosurgery Clinics of North America Jul 2011Pineoblastomas (PBs) represent the most aggressive of the pineal parenchymal tumors. Routine treatment consists of operative management of obstructive hydrocephalus and... (Review)
Review
Pineoblastomas (PBs) represent the most aggressive of the pineal parenchymal tumors. Routine treatment consists of operative management of obstructive hydrocephalus and cerebrospinal fluid studies followed by maximal resection and adjuvant chemotherapy/radiotherapy, resulting in a median survival of 20 months. Important prognostic factors for survival of patients with PB include extent of resection, age at presentation, disseminated disease, and craniospinal radiotherapy. Novel strategies being evaluated for the treatment of PB include high-dose chemotherapy with autologous stem cell therapy, stereotactic radiosurgery, and histone deacetylase inhibitors.
Topics: Chemoradiotherapy; Humans; Neurosurgical Procedures; Pinealoma; Radiosurgery; Stem Cell Transplantation; Survival Rate
PubMed: 21801990
DOI: 10.1016/j.nec.2011.05.001 -
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 -
Chinese Medical Journal Feb 2023
Topics: Humans; Child; Child, Preschool; Pinealoma; Prognosis; Brain Neoplasms; Pineal Gland
PubMed: 36989486
DOI: 10.1097/CM9.0000000000002063 -
Cancer Mar 1980From our study of eight pineoblastomas and five pineocytomas and a review of the literature, we have described two clinicopathologic syndromes that characterize these... (Comparative Study)
Comparative Study Review
From our study of eight pineoblastomas and five pineocytomas and a review of the literature, we have described two clinicopathologic syndromes that characterize these neoplasms. Pineoblastomas highly resemble the medulloblastoma-neuroblastoma group of tumors and occur mostly in young people. The tempo of progression of the disease is fast, the length of illness is short. These are infiltrating neoplasms that commonly spread via the cerebrospinal fluid. They are radiosensitive. Histologically they are also similar to the medulloblastoma-neuroblastoma group and are characterized by the scarcity of cytoplasmic processes and by the Homer Wright rosette. They contain giant cells. Pineocytomas are tumors of adults. The tempo of progression of the disease is slow, and the length of illness is long. They expand by compressing the surrounding tissues. Histologically they are characterized by the abundance of cytoplasmic processes and by the pineocytomatous rosette. They contain giant cells. Areas composed of neoplastic gangliocytes and astrocytes in various combinations are common variants in some of these neoplasms.
Topics: Adolescent; Adult; Age Factors; Brain Neoplasms; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Male; Middle Aged; Pinealoma; Prognosis
PubMed: 6986979
DOI: 10.1002/1097-0142(19800315)45:6<1408::aid-cncr2820450619>3.0.co;2-0 -
JAMA Ophthalmology Apr 2022
Topics: Brain Neoplasms; Humans; Infant; Pineal Gland; Pinealoma; Retinal Neoplasms; Retinoblastoma
PubMed: 35297960
DOI: 10.1001/jamaophthalmol.2022.0170 -
Nature Communications Apr 2020Pineoblastoma is a rare pediatric cancer induced by germline mutations in the tumor suppressors RB1 or DICER1. Presence of leptomeningeal metastases is indicative of...
Pineoblastoma is a rare pediatric cancer induced by germline mutations in the tumor suppressors RB1 or DICER1. Presence of leptomeningeal metastases is indicative of poor prognosis. Here we report that inactivation of Rb plus p53 via a WAP-Cre transgene, commonly used to target the mammary gland during pregnancy, induces metastatic pineoblastoma resembling the human disease with 100% penetrance. A stabilizing mutation rather than deletion of p53 accelerates metastatic dissemination. Deletion of Dicer1 plus p53 via WAP-Cre also predisposes to pineoblastoma, albeit with lower penetrance. In silico analysis predicts tricyclic antidepressants such as nortriptyline as potential therapeutics for both pineoblastoma models. Nortriptyline disrupts the lysosome, leading to accumulation of non-functional autophagosome, cathepsin B release and pineoblastoma cell death. Nortriptyline further synergizes with the antineoplastic drug gemcitabine to effectively suppress pineoblastoma in our preclinical models, offering new modality for this lethal childhood malignancy.
Topics: Animals; Autophagosomes; Autophagy; Cluster Analysis; Disease Models, Animal; Gene Deletion; Germ-Line Mutation; Humans; Integrases; Kaplan-Meier Estimate; Lysosomes; Mice; Neoplasm Metastasis; Nortriptyline; Pinealoma; Retinoblastoma Protein; Tumor Suppressor Protein p53
PubMed: 32286280
DOI: 10.1038/s41467-020-15585-2 -
Neurosurgery Sep 1995This is the first report of a series of adults (> 16 years of age) with pineoblastomas who had their entire neuraxis staged at the time of diagnosis. Between 1975 and...
This is the first report of a series of adults (> 16 years of age) with pineoblastomas who had their entire neuraxis staged at the time of diagnosis. Between 1975 and 1992, seven men and four women with histologically proven pineoblastomas were evaluated at the University of California, San Francisco. The median age at diagnosis was 36 years (range, 17-59 yr). All patients presented with symptomatic hydrocephalus. One patient had a complete surgical resection, eight had subtotal resections, and two had biopsies only. One patient refused any treatment or follow-up review and died 6 months after diagnosis. The five patients with positively staged disease had progression either focally or in the spine 8 to 49 months (median, 10 mo) after initial diagnosis and died 1 to 20 months after recurrence; the median overall survival time from the date of surgery was 30 months. In contrast, all five patients with negatively staged disease were alive without disease progression after a median of 26 months of follow-up. Our retrospective review shows that the extent of disease at diagnosis seems to be an important prognostic factor for pineoblastomas, as is true for medulloblastomas and other primitive neuroectodermal tumors. Initial staging should include examination of the cerebrospinal fluid and magnetic resonance imaging of the spine. Although patients with pineoblastomas are often treated with adjuvant systemic chemotherapy after craniospinal irradiation, the benefits of this approach are unclear.
Topics: Adolescent; Adult; Biopsy; Brain Neoplasms; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasm Staging; Pineal Gland; Pinealoma; Survival Rate
PubMed: 7501100
DOI: 10.1227/00006123-199509000-00003 -
Cancer Jan 2012For this report, the authors comprehensively summarized the existing literature on patients with pineoblastoma and identified the variables and treatments that had an... (Review)
Review
BACKGROUND
For this report, the authors comprehensively summarized the existing literature on patients with pineoblastoma and identified the variables and treatments that had an impact patient on outcomes.
METHODS
A comprehensive search identified 109 studies that collectively described the outcomes of patients with pineoblastoma. Individual patient data were classified based on treatment and were subjected to univariate comparisons. Cox regression analysis included comparisons of survival outcomes controlling for age, extent of resection, and treatment group, and between-group survival comparisons were performed using the Kendall tau (rank correlation) statistic.
RESULTS
Two hundred ninety-nine patients met inclusion criteria. The overall survival rate was 54% (175 of 299 patients) at a mean follow-up of 31 ± 1.9 months (range, 1-159 months). The analyses demonstrated a markedly worse prognosis for children aged ≤ 5 years compared with older patients (5-year survival rate: 15% for children aged ≤ 5 years vs 57% for children aged ≥ 5 years; log-rank P < .00001). In addition, a graded increase in survival was observed with increasing degrees of resection (5-year survival rate: 84% for patients who underwent gross total resection vs 53% for patients who underwent subtotal resection vs 29% for patients who underwent debulking; log-rank P < .0001). Multivariate analysis indicated that not achieving gross total resection markedly worsened patient survival (subtotal resection: hazard ratio, 6.47; 95% confidence interval, 2.3-19; P = .001. debulking: hazard ratio, 9.27; 95% confidence interval, 3.2-27; P < .0001).
CONCLUSIONS
The current findings emphasize the importance of aggressive surgical resection in the treatment of pineoblastoma. In addition, the authors conclude that clinical trials should not mix young patients with older patients or patients who undergo subtotal resection with patients who undergo gross total resection, because such heterogeneity may alter the variability of responses to treatment and reduce the likelihood of success.
Topics: Adult; Brain Neoplasms; Chemotherapy, Adjuvant; Child; Child, Preschool; Combined Modality Therapy; Female; Humans; Male; Pinealoma; Prognosis; Radiotherapy, Adjuvant; Survival Analysis; Treatment Outcome
PubMed: 21717450
DOI: 10.1002/cncr.26300