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World Neurosurgery Dec 2015Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the...
INTRODUCTION
Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the various aspects of these tumors between adults and children.
METHODS
The authors report a series of 12 pineoblastomas in adults from 2 institutions over 24 years. The clinical, radiologic, and pathologic features and clinical outcomes were compared with previously reported cases in children and adults.
RESULTS
Patient age ranged from 24 to 81 years, and all but 1 patient exhibited symptoms of obstructive hydrocephalus. Three patients underwent gross total resection, and subtotal resection was performed in 3 patients. Diagnostic biopsy specimens were obtained in an additional 6 patients. Pathologically, the tumors had the classical morphologic and immunohistochemical features of pineoblastomas. Postoperatively, 10 patients received radiotherapy, and 5 patients received chemotherapy. Compared with previously reported cases, several differences were noted in clinical outcomes. Of the 12 patients, only 5 (42%) died of their disease (average length of survival, 118 months); 5 patients (42%) are alive with no evidence of disease (average length of follow-up, 92 months). One patient died of unrelated causes, and one was lost to follow-up. Patients with subtotal resections or diagnostic biopsies did not suffer a worse prognosis. Of the 9 patients with biopsy or subtotal resection, 4 are alive, 4 died of their disease, and 1 died of an unrelated hemorrhagic cerebral infarction.
CONCLUSIONS
Although this series is small, the data suggest that pineoblastomas in adults have a less aggressive clinical course than in children.
Topics: Adult; Aged; Aged, 80 and over; Biopsy; Brain Neoplasms; Chemotherapy, Adjuvant; Female; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Middle Aged; Pineal Gland; Pinealoma; Radiotherapy, Adjuvant; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 26287970
DOI: 10.1016/j.wneu.2015.08.005 -
Brain Pathology (Zurich, Switzerland) Mar 2016Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor, which might pose diagnostic difficulties and recurs often. Little is known about underlying...
Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor, which might pose diagnostic difficulties and recurs often. Little is known about underlying molecular alterations. We therefore investigated chromosomal copy number alterations, DNA methylation patterns and mRNA expression profiles in a series of 24 PTPRs. Losses of chromosome 10 were identified in all 13 PTPRs examined. Losses of chromosomes 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were also common. DNA methylation profiling using Illumina 450k arrays reliably distinguished PTPR from ependymomas and pineal parenchymal tumors of intermediate differentiation. PTPR could be divided into two subgroups based on methylation pattern, PTPR group 2 showing higher global methylation and a tendency toward shorter progression-free survival (P = 0.06). Genes overexpressed in PTPR as compared with ependymal tumors included SPDEF, known to be expressed in the rodent subcommissural organ. Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities. In conclusion, PTPRs show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.
Topics: Adolescent; Adult; Brain Neoplasms; Child; Child, Preschool; Choroid Plexus Neoplasms; Chromosome Aberrations; DNA Methylation; DNA Mutational Analysis; Disease-Free Survival; Ependymoma; Female; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Pineal Gland; Pinealoma; Polymorphism, Single Nucleotide; RNA, Messenger
PubMed: 26113311
DOI: 10.1111/bpa.12282 -
The Malaysian Journal of Pathology Aug 2018Intracranial teratomas account for 0.5% of all intracranial tumours and 2-4% of intracranial tumours in children. However, in terms of tumours of the pineal area, the... (Review)
Review
INTRODUCTION
Intracranial teratomas account for 0.5% of all intracranial tumours and 2-4% of intracranial tumours in children. However, in terms of tumours of the pineal area, the exact incidence is not ascertained. Although, it is noted that 50-60% of central nervous system (CNS) germ cell tumours are found in the pineal gland. The degree of difficulty in the sampling of lesions in the pineal gland during biopsy emphasizes the importance of correlating the imaging studies, histopathologic findings, and serum and cerebrospinal fluid (CSF) tumour markers.
CASE REPORT
This case report is that of a 9-year-old male who presented with frontal headache of eight days, with associated photophobia, nausea and vomiting, and diplopia. Biopsy with intraoperative navigation was done and the specimen was referred for histopathologic evaluation. The biopsy showed findings consistent with a mature teratoma with no histologic findings of an immature component or secondary somatic malignancy. Comparison of the pre-operative and post-operative multiaxial cranial CT scan showed findings that was consistent with a residual lesion. This was correlated with the pre-operative serum tumour markers which showed alpha-fetoprotein of 22.5 ng/mL and beta-HCG of 1.0 mIU/mL(IU/L), and the post-operative tumour markers of the cerebrospinal fluid that showed alpha-fetoprotein of 3.28 ng/mL and beta-HCG of 18.9 mIU/mL (IU/L).
CONCLUSION
A review of the literature and comparison with current case in relation to the histopathologic, serum and CSF findings, and imaging studies was done to better understand the mechanism of this lesion.
Topics: Biomarkers, Tumor; Child; Humans; Male; Pinealoma; Teratoma
PubMed: 30173236
DOI: No ID Found -
The Turkish Journal of Pediatrics 2021Pineoblastomas (PB) are rare tumors of the central nervous system and are more common in children. There is no consensus about standard of care. The objective of this...
BACKGROUND
Pineoblastomas (PB) are rare tumors of the central nervous system and are more common in children. There is no consensus about standard of care. The objective of this study is to analyze the outcome of children with PB.
METHODS
Six patients with PB who were diagnosed between 1990-2012 were evaluated retrospectively. Demographics, age of diagnosis, first complaint, tumor region, diagnosis type, seeding metastasis to the spinal axis or cerebrospinal fluid (CSF), treatment and survival of these patients were recorded.
RESULTS
Three patients had subtotal resection and all patients received chemotherapy and craniospinal irradiation (CSI) after diagnosis. Median follow-up after treatment was 5.5 (range:1-19) years. Two patients are alive with no evidence of disease for 7.5 and 10 years, one of whom was diagnosed with papillary thyroid carcinoma 9.5 years after treatment. One of the patients who died had lived for 19 years after diagnosis.
CONCLUSIONS
Pineoblastomas are rare but very aggressive tumors; more effective treatment strategies are needed. Survivors should be followed up for late effects such as second malignancies and endocrine deficiencies.
Topics: Brain Neoplasms; Child; Humans; Pineal Gland; Pinealoma; Retrospective Studies; Treatment Outcome
PubMed: 35023643
DOI: 10.24953/turkjped.2021.06.002 -
JPMA. the Journal of the Pakistan... Feb 2022To analyse the size and morphology of the normal pineal gland in the paediatric age group using magnetic resonance imaging.
OBJECTIVE
To analyse the size and morphology of the normal pineal gland in the paediatric age group using magnetic resonance imaging.
METHODS
The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of patients aged <18 years who had magnetic resonance imaging done between 2007 and 2017. Pineal size was estimated measuring its largest anteroposterior and supero-inferior diameters on sagittal T2-weighted sequences on any slice with maximal diameter. The width of pineal gland was measured on axial or coronal T2 sequences. The volume, morphology and enhancement patterns of the gland were also assessed. Data was analysed using SPSS 21.
RESULTS
Of the 200 patients, 116(58%) were males and 84(42%) were females. The overall mean age was 7.8±5.5 years. The mean anteroposterior dimension was 4.85±1.46mm, height 3.31±0.95mm, width 4.16±1.19, and volume 39.54±38.12 mm3. Mean size of cyst was 2.77±1.4mm (range: 1.2-7.5mm). No significant differences in the pattern of enhancement were found in different age groups (p>0.05).
CONCLUSIONS
Comprehensive knowledge of the size of the typical pineal organ is useful for radiologists in the identification of pineal gland anomalies and the exclusion of neoplastic lesions.
Topics: Adolescent; Body Height; Child; Child, Preschool; Cysts; Female; Humans; Magnetic Resonance Imaging; Male; Pineal Gland; Retrospective Studies
PubMed: 35320171
DOI: 10.47391/JPMA.314 -
Folia Neuropathologica 2016Papillary tumor of the pineal region (PTPR) represents a recently described entity and was included in the 2007 World Health Organization (WHO) classification of central... (Review)
Review
Papillary tumor of the pineal region (PTPR) represents a recently described entity and was included in the 2007 World Health Organization (WHO) classification of central nervous system tumors. The biological and clinical behavior of PTPR is variable and may correspond to WHO grades II or III. Papillary tumor of the pineal region can show aggressive biological behavior with local relapses and dissemination via the cerebrospinal fluid. Several cases of PTPR with leptomeningeal seeding and multiple lesions or spinal metastasis have been reported. We present an unusual clinical history of papillary tumor of the pineal region with ventricular and spinal dissemination five years after primary surgical treatment.
Topics: Brain Neoplasms; Carcinoma, Papillary; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Pineal Gland; Pinealoma
PubMed: 27179224
DOI: 10.5114/fn.2016.58918 -
Neuro-oncology Jan 2017Pineal parenchymal tumors (PPTs) are rare neoplasms of the central nervous system, and data concerning clinical outcomes are limited. The purpose of this study was to...
BACKGROUND
Pineal parenchymal tumors (PPTs) are rare neoplasms of the central nervous system, and data concerning clinical outcomes are limited. The purpose of this study was to define the clinical behavior of PPT according to current histopathologic criteria and identify prognostic factors to guide therapeutic decisions.
METHODS
Seventy-five patients treated for PPT at a single institution between 1992 and 2015 were retrospectively identified. Forty-five resection specimens were available and re-reviewed. Freedom from progression (FFP) and overall survival (OS) were estimated using the Kaplan-Meier method and compared using log-rank tests.
RESULTS
Median follow-up was 4.1 years. All patients initially underwent surgery; 78% of patients with PPT of intermediate differentiation (PPTID) and all patients with pineoblastoma received adjuvant therapy. Pathologic re-review refined classification in 27% of cases, with the majority of these being adult patients with pineal tumors originally classified as pineoblastomas that more accurately resembled PPTID based on the 2007 WHO classification.
CLASSIFICATION
Our histologic review also identified that PPTIDs can be classified into small-cell and large-cell morphologic subtypes, which have distinct clinical outcomes. Tumor grade, extent of resection, and neuraxis spread were prognostic for FFP. PPTID subtype, extent of resection, and neuraxis spread were prognostic for OS. Genetic analysis of a pineoblastoma case identified somatic mutations of DICER1, ARID1A, and KDM5C genes.
CONCLUSIONS
PPTIDs can be classified into 1 of 2 novel morphologic subtypes that are associated with distinct clinical outcomes. Tumor grade, neuraxis spread, and extent of resection also influence outcome for patients with PPT.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Brain Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Female; Follow-Up Studies; Humans; Male; Middle Aged; Mutation; Neoplasm Staging; Pineal Gland; Pinealoma; Prognosis; Retrospective Studies; Survival Rate; Young Adult
PubMed: 27282397
DOI: 10.1093/neuonc/now105 -
Asian Journal of Neurosurgery 2020The postoperative quality and span of life in posterior fossa tumors (PFTs) is complicated by the residual disease, progression, recurrence, disabilities, and mortality.
CONTEXT
The postoperative quality and span of life in posterior fossa tumors (PFTs) is complicated by the residual disease, progression, recurrence, disabilities, and mortality.
AIMS
The aim of this study is to analyze the link between histopathological type of tumor and outcome in an ethnic Himalayan population of India.
SETTINGS AND DESIGN
The histopathological records of 410 out of 589 patients were compared with their clinical outcome up to the 1 postoperative year in a single center which amounts to regional epidemiological value of PFTs.
MATERIALS AND METHODS
In this observational study, retrospectively postoperative records of 589 PFTs from November 1990 to December 2010 (20 years) were retrieved, scrutinized, and observed. The postoperative records of 410 patients with proved histopathological examination results were included.
STATISTICAL ANALYSIS USED
The statistical law of variance was applied wherever necessary.
RESULTS
About 63.2% of 410 operated PTFs were males while females predominated in meningiomas and pineoblastomas. About 31.7% of PFTs were children (below 18 years.). About 54.1% of the cases were histologically malignant. The residual tumors comprised 40.2%, and symptoms of disease progression occurred in 10.9%. The tumor recurrence occurred in 14.3% while 6.0% of the patients developed severe disability. The overall mortality was 11.4% up to the 1 postoperative year, with 18.9% in malignant patients. The first 1-year event-free survival (EFS) for all the patients was 66.0%. While the patients with malignancies had the first 1-year EFS of 47.7%, the histologically benign group had 87.7%.
CONCLUSION
The first 1-year postoperative EFS of histologically benign and some malignant PFTs both in children and adults such as pilocytic astrocytomas, ependymomas, and pineoblastomas was much better (87.7%) than other malignant PTFs.
PubMed: 32656120
DOI: 10.4103/ajns.AJNS_120_19 -
Neuroradiology Jul 2016Pineal cysts are a common incidental finding on brain MRI with resulting difficulties in differentiation between normal glands and pineal pathologies. The aim of this... (Comparative Study)
Comparative Study
INTRODUCTION
Pineal cysts are a common incidental finding on brain MRI with resulting difficulties in differentiation between normal glands and pineal pathologies. The aim of this study was to assess the size and morphology of the cystic pineal gland in children (0-5 years) and compare the findings with published pineoblastoma cases.
METHODS
In this retrospective multicenter study, 257 MR examinations (232 children, 0-5 years) were evaluated regarding pineal gland size (width, height, planimetric area, maximal cyst(s) size) and morphology. We performed linear regression analysis with 99 % prediction intervals of gland size versus age for the size parameters. Results were compared with a recent meta-analysis of pineoblastoma by de Jong et al.
RESULTS
Follow-up was available in 25 children showing stable cystic findings in 48 %, cyst size increase in 36 %, and decrease in 16 %. Linear regression analysis gave 99 % upper prediction bounds of 10.8 mm, 10.9 mm, 7.7 mm and 66.9 mm(2), respectively, for cyst size, width, height, and area. The slopes (size increase per month) of each parameter were 0.030, 0.046, 0.021, and 0.25, respectively. Most of the pineoblastomas showed a size larger than the 99 % upper prediction margin, but with considerable overlap between the groups.
CONCLUSION
We presented age-adapted normal values for size and morphology of the cystic pineal gland in children aged 0 to 5 years. Analysis of size is helpful in discriminating normal glands from cystic pineal pathologies such as pineoblastoma. We also presented guidelines for the approach of a solid or cystic pineal gland in hereditary retinoblastoma patients.
Topics: Brain Neoplasms; Central Nervous System Cysts; Child, Preschool; Diagnosis, Differential; Europe; Female; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Pineal Gland; Pinealoma; Reference Values; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity
PubMed: 27130617
DOI: 10.1007/s00234-016-1683-0 -
Journal of Neuropathology and... Aug 2019Pineal parenchymal tumors are rare neoplasms, ranging from WHO Grade I to IV. There are few studies characterizing the molecular profiles of these tumors. ATRX...
Pineal parenchymal tumors are rare neoplasms, ranging from WHO Grade I to IV. There are few studies characterizing the molecular profiles of these tumors. ATRX alterations are strongly associated with the presence of the alternative lengthening of telomeres (ALT) phenotype, and within the central nervous system they tend to occur in subsets of gliomas, including those with IDH, NF1, or histone (H3 K27M or G34) mutations. Here, we identified ATRX frameshift mutations by next generation sequencing associated with corresponding protein loss in 2 cases of pineal parenchymal tumors of intermediate differentiation (PPTID) developing in a 21-year-old woman and a 64-year-old man. In contrast, we identified partial ATRX loss in 1 pineoblastoma, among 14 pineal parenchymal tumors of various grades (6 pineoblastomas, 4 pineocytomas, and 4 PPTID) using tissue microarrays; ALT was absent in these cases. Evaluating the cBioPortal database, an ATRX mutation was identified in one (of 3 total) PPTIDs analyzed. Thus, ATRX mutations associated with protein loss and ALT develop in a small subset of pineal parenchymal tumors and may be limited to those with intermediate differentiation. The clinical significance of these alterations requires further study.
PubMed: 31225581
DOI: 10.1093/jnen/nlz050