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Cureus Apr 2024This case report delineates the radiological evaluation and diagnostic intricacies of two unique cases of pineal region meningioma, underscoring the pivotal role of...
This case report delineates the radiological evaluation and diagnostic intricacies of two unique cases of pineal region meningioma, underscoring the pivotal role of advanced imaging techniques in the accurate diagnosis and management of such rare tumors. Pineal region tumors represent a heterogeneous group of neoplasms, with meningiomas in this location being particularly uncommon, thereby posing significant challenges in diagnosis and therapeutic decision-making. The first case involves a 40-year-old female presenting with progressive headaches and visual disturbances with symptoms of increased intracranial pressure, whereas the second case describes a 30-year-old male presenting with headache, dizziness, difficulty with balance, and cognitive decline. Both patients underwent a comprehensive diagnostic workup, including magnetic resonance imaging (MRI), which revealed tumors in the pineal region exhibiting characteristics suggestive of meningioma. The MRI findings in both cases included well-defined mass lesions showing iso- to hypointense signal on T1-weighted images with robust contrast enhancement. Additionally, the radiological assessment was instrumental in differentiating these meningiomas from other pineal region tumors, such as germinomas or pineocytomas, based on their distinctive imaging features and the absence of dissemination. Surgical resection followed by histopathological examination confirmed the diagnosis of meningioma in both cases. This report highlights the critical role of radiological imaging in the early detection and differentiation of pineal region tumors, emphasizing the need for a multidisciplinary approach to achieve optimal patient outcomes.
PubMed: 38721197
DOI: 10.7759/cureus.57796 -
Cureus Mar 2024Pineal parenchymal tumors (PPTs) are rare, accounting for less than 0.3% of all primary central nervous system (CNS) tumors. Pineal parenchymal tumors of intermediate...
Pineal parenchymal tumors (PPTs) are rare, accounting for less than 0.3% of all primary central nervous system (CNS) tumors. Pineal parenchymal tumors of intermediate differentiation (PPTID) (WHO grade 2 or 3) show an intermediate prognosis between pineocytoma and pineoblastoma. The clinical course is unknown, and the optimal treatment for PPTID, especially for recurrence, has not been determined. We report a case of PPTID with spinal dissemination over 10 years after treatment and survival for four years. A 56-year-old woman presented with headaches and diplopia. Computerized tomography (CT) and magnetic resonance imaging (MRI) revealed a pineal mass, but leptomeningeal dissemination was not identified on whole-spine MRI. Microsurgical gross total tumor resection (GTR) was performed, and the pathological diagnosis was PPTID (grade 3). In addition, a later study found it to harbor a mutation. She underwent whole-brain radiation therapy with a focal boost. The patient was unable to continue chemotherapy for severe myelosuppression after the first course of treatment. Eleven years after the surgery, she was unable to walk, and a whole-spine MRI revealed multiple masses at C3-4, T4, and cauda equina. Fluorodeoxyglucose-positron emission tomography (FDG-PET) revealed accumulations of the same lesions. No recurrence was observed in the brain. A biopsy of the caudal portion was performed, and the histopathological findings were the same as those of the initial surgery. Spinal dissemination was refractory to chemotherapy but responded to whole spine radiotherapy with focal boost, and she remained tumor-free for four years. We considered good local control with a combination of GTR and subsequent radiation therapy to contribute to long-term survival. The timing of spinal radiation administration is controversial because of the tendency for late cerebrospinal dissemination. The importance of long-term follow-up of the spine and head is emphasized. In PPTID cases with good local control, withholding spinal radiation until spinal dissemination occurs may become a long-term treatment plan.
PubMed: 38681294
DOI: 10.7759/cureus.57147 -
Brain Pathology (Zurich, Switzerland) May 2024
Topics: Female; Humans; Pineal Gland; Pinealoma; Brain Neoplasms
PubMed: 38527786
DOI: 10.1111/bpa.13258 -
Magyar Onkologia Mar 2024Pineal region tumors account for less than 1% of adult supratentorial tumors. Their treatment requires a multimodality approach. Previously, the treatment of choice was... (Review)
Review
Pineal region tumors account for less than 1% of adult supratentorial tumors. Their treatment requires a multimodality approach. Previously, the treatment of choice was direct surgery, which is associated with high surgical risk. Advances in minimally invasive techniques and onco-radiotherapy offer a safe and multimodal personalized therapy. The aim of our study was to describe the practice of our Institute based on combined endoscopic and radiotherapy techniques. We performed a retrospective clinical study. We processed data from 23 adult patients who underwent endoscopic third ventricle fenestration and pineal tumor biopsy between 2014 and 2023. Descriptive statistics, t-test, Fisher's exact test and Kaplan-Meier analysis were performed. Clinical improvement with endoscopic intervention was achieved in 78.3% of cases. Significant increase in preoperative performance status was observed in the postoperative period (p=2.755e-5), and radiotherapy resulted in regression or stable disease. Our results suggest a safe treatment with good clinical outcome and an excellent alternative to direct surgery.
Topics: Adult; Humans; Brain Neoplasms; Combined Modality Therapy; Pineal Gland; Pinealoma; Retrospective Studies
PubMed: 38484373
DOI: No ID Found -
BMC Pediatrics Mar 2024Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of...
Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors. In this study, we describe an infant in pineoblastoma with facial anomalies, learning disability and mild autism at 1 years diagnosed as Sotos syndrome owing to carrying a novel mutation de novo germline NSD1 likely pathogenic variant. This patient expands both the mutation and phenotype spectrum of the Sotos Syndrome and provides new clinical insights into the potential mechanism of underlying pinealoblastoma pathology.
Topics: Infant; Humans; Sotos Syndrome; Histone-Lysine N-Methyltransferase; Histone Methyltransferases; Germ-Line Mutation; Pinealoma; Mutation; Brain Neoplasms; Pineal Gland
PubMed: 38459438
DOI: 10.1186/s12887-024-04636-y -
Asian Journal of Surgery Jun 2024
Topics: Humans; Ependymoma; Pineal Gland; Pinealoma; Brain Neoplasms; Male; Magnetic Resonance Imaging; Female
PubMed: 38388272
DOI: 10.1016/j.asjsur.2024.02.027 -
Acta Neuropathologica Feb 2024
Topics: Humans; Pinealoma; Pineal Gland; Brain Neoplasms
PubMed: 38340193
DOI: 10.1007/s00401-024-02685-2 -
Acta Neuropathologica Feb 2024
Pineal parenchymal tumors of intermediate differentiation: in need of a stringent definition to avoid confusion. Scientific commentary on 'Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular,...
Topics: Humans; Pinealoma; Brain Neoplasms; Pineal Gland
PubMed: 38340187
DOI: 10.1007/s00401-024-02684-3 -
World Neurosurgery Apr 2024A pineal region tumor is a rare intracranial tumor, and its specific location leads to its own characteristics. This study aimed to provide some insight for medical...
BACKGROUND
A pineal region tumor is a rare intracranial tumor, and its specific location leads to its own characteristics. This study aimed to provide some insight for medical practice in the care of pineal region tumors. We investigated the key epidemiological characteristics and survival prognosis of pineal tumors based on the epidemiological data from the Surveillance, Epidemiology, and End Results database.
METHODS
Data of pineal region tumor patients from 1975 to 2019 were extracted from the Surveillance, Epidemiology, and End Results database. The data were divided into 3 pathologic groups: germ cell tumors, pineal parenchymal tumors, and other. The patients' overall survival (OS) was analyzed using the Kaplan-Meier method. The prognostic effects of the patient characteristics on OS were explored using the Cox proportional hazard model. The analysis results are presented as tabular data, Kaplan-Meier plots, forest plots, and nomograms. A calibration curve was used to verify the nomograms. All analyses were performed for all patients overall and stratified by pathological group using SPSS and R language.
RESULTS
Based on the predefined inclusion and exclusion criteria, 628 patients were included in this study, of whom 440 (70.1%) were male and 188 (29.9%) were female. Most patients were aged 0-19 years. The pathological type was germinoma for 225 patients (35.8%). Age, surgery, behavioral code, and pathology were significant factors for OS. A calibration curve was used to verify that the nomograms had a good prediction effect.
CONCLUSIONS
An intuitive nomogram was developed and verified and can predict the prognosis of patients with pineal tumors.
Topics: Humans; Male; Female; Pinealoma; Neoplasm Staging; Retrospective Studies; SEER Program; Prognosis; Nomograms; Brain Neoplasms; Pineal Gland
PubMed: 38266997
DOI: 10.1016/j.wneu.2024.01.088 -
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