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Journal of Medical Case Reports Jun 2022We report a rare case in medical literature of a patient with pineal gland teratoma and uncommon metastases. Usually, metastases of this kind of tumor are located in...
BACKGROUND
We report a rare case in medical literature of a patient with pineal gland teratoma and uncommon metastases. Usually, metastases of this kind of tumor are located in several organs such as lung and breast, but here we found metastases to the spinal cord and vertebrae.
CASE PRESENTATION
A 35-year-old Asian white man presented with diplopia and acute neural symptoms in the lower limbs such as numbness, tingling, and paralysis. His medical history was notable for pineal teratoma, treated 1 year previously with surgery, radiotherapy, and chemotherapy. Physical examination of the lower limbs showed absent reflexes and sensation with muscle power scale score of 1 in both limbs. Magnetic resonance imaging of brain and spine revealed many lesions in various locations, most compatible with neural, spinal, and vertebral metastases. Unfortunately, the patient died suddenly before any intervention was carried out.
CONCLUSION
It is extremely rare for pineal region teratoma to metastasize to the spinal cord and vertebrae, thus more vigilant observation and examination should be provided to patients with pineal teratoma to detect any new lesions and prevent them from becoming dangerous.
Topics: Adult; Brain Neoplasms; Humans; Magnetic Resonance Imaging; Male; Pinealoma; Teratoma
PubMed: 35739572
DOI: 10.1186/s13256-022-03454-z -
The Neuroradiology Journal Apr 2015Diffusion weighted imaging (DWI) has been shown to be helpful in characterizing tumor cellularity, and predicting histology. Several works have evaluated this technique...
BACKGROUND
Diffusion weighted imaging (DWI) has been shown to be helpful in characterizing tumor cellularity, and predicting histology. Several works have evaluated this technique for pineal tumors; however studies to date have not focused on pediatric pineal tumors.
OBJECTIVE
We evaluated the diffusion characteristics of pediatric pineal tumors to confirm if patterns seen in studies using mixed pediatric and adult populations remain valid.
MATERIALS AND METHODS
This retrospective study was performed after Institutional Review Board approval. We retrospectively evaluated all patients 18 years of age and younger with pineal tumors from a single institution where preoperative diffusion weighted imaging as well as histologic characterization was available.
RESULTS
Twenty patients (13 male, 7 female) with pineal tumors were identified: seven with pineoblastoma, four with Primitive Neuroectodermal Tumor (PNET), two with other pineal tumors, and seven with germ cell tumors including two germinomas, three teratomas, and one mixed germinoma-teratoma. The mean apparent diffusion coefficient (ADC) values in pineoblastoma (544 ± 65 × 10⁻⁶ mm²/s) and pineoblastoma/PNET (595 ± 144 × 10⁻⁶ mm²/s) was lower than that of the germ cell tumors (1284 ± 334 × 10⁻⁶ mm²/s; p < 0.0001 vs pineoblastoma). One highly cellular germinoma had an ADC value of 694 × 10⁻⁶ mm²/s.
CONCLUSION
ADC values can aid in differentiation of pineoblastoma/PNET from germ cell tumors in a population of children with pineal masses.
Topics: Adolescent; Brain Neoplasms; Child; Child, Preschool; Diffusion Magnetic Resonance Imaging; Female; Humans; Infant; Male; Pineal Gland; Pinealoma; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity
PubMed: 25963154
DOI: 10.1177/1971400915581741 -
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 -
Acta Neuropathologica Feb 2020Pineoblastoma is a rare embryonal tumor of childhood that is conventionally treated with high-dose craniospinal irradiation (CSI). Multi-dimensional molecular evaluation...
Pineoblastoma is a rare embryonal tumor of childhood that is conventionally treated with high-dose craniospinal irradiation (CSI). Multi-dimensional molecular evaluation of pineoblastoma and associated intertumoral heterogeneity is lacking. Herein, we report outcomes and molecular features of children with pineoblastoma from two multi-center, risk-adapted trials (SJMB03 for patients ≥ 3 years; SJYC07 for patients < 3 years) complemented by a non-protocol institutional cohort. The clinical cohort consisted of 58 patients with histologically diagnosed pineoblastoma (SJMB03 = 30, SJYC07 = 12, non-protocol = 16, including 12 managed with SJMB03-like therapy). The SJMB03 protocol comprised risk-adapted CSI (average-risk = 23.4 Gy, high-risk = 36 Gy) with radiation boost to the primary site and adjuvant chemotherapy. The SJYC07 protocol consisted of induction chemotherapy, consolidation with focal radiation (intermediate-risk) or chemotherapy (high-risk), and metronomic maintenance therapy. The molecular cohort comprised 43 pineal parenchymal tumors profiled by DNA methylation array (n = 43), whole-exome sequencing (n = 26), and RNA-sequencing (n = 16). Respective 5-year progression-free survival rates for patients with average-risk or high-risk disease on SJMB03 or SJMB03-like therapy were 100% and 56.5 ± 10.3% (P = 0.007); respective 2-year progression-free survival rates for those with intermediate-risk or high-risk disease on SJYC07 were 14.3 ± 13.2% and 0% (P = 0.375). Of patients with average-risk disease treated with SJMB03/SJMB03-like therapy, 17/18 survived without progression. DNA-methylation analysis revealed four clinically relevant pineoblastoma subgroups: PB-A, PB-B, PB-B-like, and PB-FOXR2. Pineoblastoma subgroups differed in age at diagnosis, propensity for metastasis, cytogenetics, and clinical outcomes. Alterations in the miRNA-processing pathway genes DICER1, DROSHA, and DGCR8 were recurrent and mutually exclusive in PB-B and PB-B-like subgroups; PB-FOXR2 samples universally overexpressed the FOXR2 proto-oncogene. Our findings suggest superior outcome amongst older children with average-risk pineoblastoma treated with reduced-dose CSI. The identification of biologically and clinically distinct pineoblastoma subgroups warrants consideration of future molecularly-driven treatment protocols for this rare pediatric brain tumor entity.
Topics: Adolescent; Age Factors; Brain Neoplasms; Child; Child, Preschool; Cohort Studies; DNA Methylation; Female; Humans; Male; Pineal Gland; Pinealoma; Proto-Oncogene Mas; Risk Factors; Survival Rate; Young Adult
PubMed: 31802236
DOI: 10.1007/s00401-019-02106-9 -
Archives of Pathology & Laboratory... Aug 2006Pineal anlage tumor is an extremely rare tumor that is not listed in the 2000 World Health Organization Classification of nervous system tumors. It has been defined as a... (Review)
Review
Pineal anlage tumor is an extremely rare tumor that is not listed in the 2000 World Health Organization Classification of nervous system tumors. It has been defined as a primary pineal tumor with both neuroepithelial and ectomesenchymal differentiation and without endodermal differentiation. We review the literature on this tumor, including the clinical presentation, gross pathology, histopathology, immunohistochemistry, differential diagnosis, and prognosis.
Topics: Biomarkers, Tumor; Brain Neoplasms; Diagnosis, Differential; Humans; Immunohistochemistry; Medulloblastoma; Mesenchymoma; Neuroectodermal Tumor, Melanotic; Pineal Gland; Pinealoma; Rhabdomyosarcoma; Teratoma
PubMed: 16879032
DOI: 10.5858/2006-130-1233-ROPATW -
Journal of Neuro-oncology Nov 2018Medulloblastoma, the most common primary pediatric malignant brain tumor, originates in the posterior fossa of the brain. Pineoblastoma, which originates within the...
PURPOSE
Medulloblastoma, the most common primary pediatric malignant brain tumor, originates in the posterior fossa of the brain. Pineoblastoma, which originates within the pineal gland, is a rarer malignancy that also presents in the pediatric population. Medulloblastoma and pineoblastoma exhibit overlapping clinical features and have similar histopathological characteristics. Histopathological similarities confound rapid diagnoses of these two tumor types. We have conducted a pilot feasibility study analyzing the molecular profile of archived frozen human tumor specimens using mass spectrometry imaging (MSI) to identify potential biomarkers capable of classifying and distinguishing between medulloblastoma and pineoblastoma.
METHODS
We performed matrix-assisted laser desorption ionization Fourier transform ion cyclotron resonance mass spectrometry imaging on eight medulloblastoma biopsy specimens and three pineoblastoma biopsy specimens. Multivariate statistical analyses were performed on the MSI dataset to generate classifiers that distinguish the two tumor types. Lastly, the molecules that were discriminative of tumor type were queried against the Lipid Maps database and identified.
RESULTS
In this pilot study we show that medulloblastoma and pineoblastoma can be discriminated using molecular profiles determined by MSI. The highest-ranking discriminating classifiers of medulloblastoma and pineoblastoma were glycerophosphoglycerols and sphingolipids, respectively.
CONCLUSION
We demonstrate proof-of-concept that medulloblastoma and pineoblastoma can be rapidly distinguished by using MSI lipid profiles. We identified biomarker candidates capable of distinguishing these two histopathologically similar tumor types. This work expands the current molecular knowledge of medulloblastoma and pineoblastoma by characterizing their lipidomic profiles, which may be useful for developing novel diagnostic, prognostic and therapeutic strategies.
Topics: Brain Neoplasms; Cerebellum; Child; Diagnosis, Differential; Humans; Medulloblastoma; Pilot Projects; Pineal Gland; Pinealoma; Proof of Concept Study; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
PubMed: 30128689
DOI: 10.1007/s11060-018-2978-2 -
Nature Communications Jul 2018Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with...
Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk of pineoblastoma, but genetic drivers of sporadic pineoblastoma remain unknown. Here, we analyzed pediatric and adult pineoblastoma samples (n = 23) using a combination of genome-wide DNA methylation profiling and whole-exome sequencing or whole-genome sequencing. Pediatric and adult pineoblastomas showed distinct methylation profiles, the latter clustering with lower-grade pineal tumors and normal pineal gland. Recurrent variants were found in genes involved in PKA- and NF-κB signaling, as well as in chromatin remodeling genes. We identified recurrent homozygous deletions of DROSHA, acting upstream of DICER1 in microRNA processing, and a novel microduplication involving chromosomal region 1q21 containing PDE4DIP (myomegalin), comprising the ancient DUF1220 protein domain. Expresion of PDE4DIP and DUF1220 proteins was present exclusively in pineoblastoma with PDE4DIP gain.
Topics: Adaptor Proteins, Signal Transducing; Adult; Aged; Brain Neoplasms; Child; Cytoskeletal Proteins; DEAD-box RNA Helicases; DNA Methylation; Exome; Gene Deletion; Gene Duplication; Genome, Human; Homozygote; Humans; Middle Aged; Muscle Proteins; Nuclear Proteins; Pineal Gland; Pinealoma; Protein Domains; Ribonuclease III; Transcriptome
PubMed: 30030436
DOI: 10.1038/s41467-018-05029-3 -
Radiology Case Reports Dec 2022Central nervous system germ cell tumors are rare lesions that are more frequently seen in the pediatric age group. Intracranial germinomas are a type of these germ cell...
Central nervous system germ cell tumors are rare lesions that are more frequently seen in the pediatric age group. Intracranial germinomas are a type of these germ cell tumors and commonly arise in the pineal region, suprasellar region, or less frequently at both areas (bifocal). Common features of this tumor depend on the location of the lesion(s) and include Parinaud's syndrome, obstructive hydrocephalus, diabetes insipidus, panhypopituitarism, strabismus, and visual acuity defects. We report a case of bifocal pineal and suprasellar germinoma with posterior fossa metastases in a 15-year-old male patient. The involvement of the third ventricular floor and nonthickened inferior pituitary stalk of the suprasellar lesion suggest that it is a metastasis of a primary pineal lesion rather than a dual-primary. This distinction, with the presence of posterior fossa metastases, favors the use of more aggressive treatment with combination radiation therapy and chemotherapy for a better outcome.
PubMed: 36189158
DOI: 10.1016/j.radcr.2022.08.102 -
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 -
BMC Neurology Aug 2021Primary intracranial neuroendocrine tumors are exceedingly rare, with few cases in the literature. We present a case of a primary neuroendocrine carcinoma of the pineal...
INTRODUCTION
Primary intracranial neuroendocrine tumors are exceedingly rare, with few cases in the literature. We present a case of a primary neuroendocrine carcinoma of the pineal gland, which is the second that has ever been reported.
CASE PRESENTATION
A 53-year-old male patient presented with vomiting, weakness, and headaches. Imaging revealed a lesion in the pineal region, which was surgically resected. This mass was characterized by histology as a neuroendocrine carcinoma, given the presence of neuroendocrine markers and cytokeratin markers with absence of a primary lesion elsewhere on imaging.
CONCLUSIONS
There are currently no guidelines on the management of primary intracranial neuroendocrine tumors. In this case, the patient underwent surgical resection and craniospinal radiotherapy. He subsequently received one cycle of chemotherapy with temozolomide, an alkylating agent, but he unfortunately did not tolerate treatment. A multidisciplinary decision was made along with the patient and his family to focus on palliative care. Eighteen months after the initial presentation, disease recurred in the patient's neck. The patient underwent resection to control the metastases, with a plan to follow with radiotherapy and chemotherapy. Unfortunately, the patient became unwell and died at 21 months after initial diagnosis. This demonstrates a need for continued research and reporting on this uncommon disease entity.
Topics: Brain Neoplasms; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neuroendocrine Tumors; Pineal Gland; Pinealoma
PubMed: 34416869
DOI: 10.1186/s12883-021-02351-0