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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 -
Frontiers in Oncology 2024Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs...
BACKGROUND
Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas.
MATERIAL AND METHODS
A retrospective chart review was performed on all patients treated at the Children's Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available. Plasma samples were profiled for miRNA expression, and DESeq2 was used to compare between pure germinoma and other tumor types. Differentially expressed miRNAs were identified. The area under the curve of the receive;r operating characteristic curve was constructed to evaluate diagnostic performance.
RESULTS
Samples from 39 pediatric patients were available consisting of 12 pure germinomas and 27 pineal region tumors of other pathologies, including pineal origin tumors [ = 17; pineoblastoma ( = 13) and pineal parenchymal tumors of intermediate differentiation ( = 4)] and others [ = 10; low-grade glioma ( = 6) and atypical teratoid rhabdoid tumor ( = 4)]. Using an adjusted -value <0.05, three miRNAs showed differential expression (miR-143-3p, miR-320c, miR-320d; adjusted = 0.0058, = 0.0478, and = 0.0366, respectively) and good discriminatory power between the two groups (AUC 90.7%, < 0.001) with a sensitivity of 25% and a specificity of 100%.
CONCLUSION
Our results suggest that a three-plasma miRNA signature has the potential to non-invasively identify pineal body pure germinomas which may allow selected patients to avoid the potential surgical complications.
PubMed: 38665953
DOI: 10.3389/fonc.2024.1219796 -
Case Reports in Oncology 2024Intracranial germinomas mainly arise in the pineal gland or neurohypophyseal region. The basal ganglia have been reported as the site of occurrence for ectopic...
INTRODUCTION
Intracranial germinomas mainly arise in the pineal gland or neurohypophyseal region. The basal ganglia have been reported as the site of occurrence for ectopic germinomas, whereas other sites have been rarely described. We experienced a case of multifocal ectopic germinoma that arose in the septum pellucidum and the dorsal brain stem, not including the pineal gland, neurohypophysis, and basal ganglia of ectopic germinoma in a pregnant woman.
CASE PRESENTATION
The patient initially presented to our institution with complaints of diplopia in the past 14 weeks of gestation, and imaging later revealed two intracranial neoplastic lesions, with one lesion involving the septum pellucidum and the other involving the dorsal brainstem. Both tumors were partially excised via a transcortical approach. Based on the results of pathology and immunohistochemistry, the patient was diagnosed with germinoma, and the intraoperative spinal fluid cytology was class V in Papanicolaou classification. The patient received three courses of ifosfamide, carboplatin, and etoposide together with whole-brain irradiation, which resulted in complete elimination of the tumors. No evidence of recurrence was identified after 18 months.
CONCLUSION
The results illustrated the need to consider germinoma in the differential diagnosis if the lesions involve midline structures such as the septum pellucidum or dorsal brainstem. Given the rarity of germinoma arising outside the pineal gland and neurohypophyseal region, these findings provide key insights into the diagnosis and treatment of this disease.
PubMed: 38549623
DOI: 10.1159/000538088 -
Frontiers in Oncology 2024Non-germinomatous germ cell tumors (NGGCT) accounts for one third of intracranial GCT. While the germinoma group have an excellent overall survival, the standard of...
Intracranial non-germinomatous germ cell tumors in children and adolescents: how can the experience from an uppermiddle-income country contribute to the worldwide effort to improve outcomes?
BACKGROUND
Non-germinomatous germ cell tumors (NGGCT) accounts for one third of intracranial GCT. While the germinoma group have an excellent overall survival, the standard of practice for children with NGGCT is still under evaluation.
AIMS
Describe the results of the of the Brazilian consortium protocol.
METHODS
Since 2013, 15 patients with a diagnosis of NGGCT by histopathology and/or serum/cerebrospinal fluid (CSF) tumor markers, βHCG >200mlU/ml and/or positive alpha-fetoprotein were treated with neoadjuvant chemotherapy with carboplatin, cyclophosphamide and etoposide followed by ventricular radiotherapy (RTV) of 18Gy with boost (32Gy) to the primary site. Metastatic patients underwent craniospinal irradiation (CSI) and "slow responders" to the four initial cycles of CT, to autologous stem cell transplantation (ASCT) followed by CSI.
RESULTS
Mean age, 13.1 years. Thirteen males. Primary sites: pineal (n=12), suprasellar (n=2) and bifocal (n=1). Four patients were metastatic at diagnosis. Eight patients had CSF and/or serum alpha-fetoprotein levels > 1,000ng/ml. Tumor responses after chemotherapy demonstrated complete in six cases and partial in seven, with "second-look" surgery being performed in five cases, and two patients presenting viable lesions being referred to ASCT. The main toxicity observed was hematological grades 3/4. Two patients with metastatic disease, one with Down Syndrome and AFP > 1,000ng/ml and the other with choriocarcinoma and pulmonary metastases, developed progressive disease resulting in death, as well as two other patients without evidence of disease, due to endocrinological disorders. Event-free and overall survival at 2 and 5 years were 80% and 72.7%, respectively, with a mean follow-up of 48 months (range, 7-107).
CONCLUSIONS
Despite the small number of patients, in our series, treatment with six cycles of chemotherapy and RTV with focal boost for localized disease (n=11) and ACST for identified slow responders (n=2) seem to be effective strategies contributing to the overall effort to improve outcomes of this group of patients.
PubMed: 38500657
DOI: 10.3389/fonc.2024.1308128 -
Journal of Neurosurgery. Case Lessons Mar 2024Bifocal germ cell tumors, with primarily identical tissue composition, occur concurrently in the neurohypophyseal and pineal regions.
BACKGROUND
Bifocal germ cell tumors, with primarily identical tissue composition, occur concurrently in the neurohypophyseal and pineal regions.
OBSERVATIONS
A 16-year-old male patient exhibited increased intracranial pressure symptoms, with concurrent tumors in the pineal and neurohypophyseal regions, causing obstructive hydrocephalus. His serum human chorionic gonadotropin level was elevated, measuring 506.6 mIU/mL. Upon gross endoscopic examination, the pineal tumor appeared white, whereas the neurohypophyseal tumor appeared red and hemorrhagic. Because of the limited sample size of the latter, a frozen section biopsy was feasible only for the pineal lesion, which indicated the presence of a germinoma. Subsequently, carboplatin and etoposide were administered, resulting in the reduction of the pineal tumor, but no effect was observed in the neurohypophyseal tumor. Histopathological analysis confirmed the pineal lesion as a germinoma, whereas the neurohypophyseal lesion was an embryonal carcinoma. Thus, the treatment was altered to ifosfamide, carboplatin, and etoposide (ICE), leading to a response in both tumors. The patient underwent three additional cycles of ICE therapy and high-dose chemotherapy, followed by whole craniospinal irradiation, achieving complete remission.
LESSONS
Although most bifocal germ cell tumors share the same histological tissue, occasional differences may arise, necessitating separate biopsies for accurate assessment.
PubMed: 38437676
DOI: 10.3171/CASE23718 -
Cureus Jan 2024Intracranial germ cell tumors (GCTs) are rare malignant tumors with a peak incidence around puberty. The pineal region is the most commonly involved area of all...
Intracranial germ cell tumors (GCTs) are rare malignant tumors with a peak incidence around puberty. The pineal region is the most commonly involved area of all intracranial GCTs. Due to the heterogeneous tumor origin, subtypes, and presentation, diagnosis and management are challenging. Complicated pineal germinomas are rarely reported in the literature. Here, we report a rare case of pineal germinoma with hydrocephalus and discuss the potential treatment approach. A 20-year-old boy presented to the hospital with vomiting and a decreased level of consciousness. The brain magnetic resonance imaging (MRI) revealed a pineal tumor. A ventriculoperitoneal shunt was placed to relieve the increased intracranial pressure. The patient underwent a suboccipital craniotomy with excisional biopsy of the pineal region tumor due to its critical location, as imaging studies alone may not be sufficient to establish a definitive diagnosis. Although there has been a rise in reported cases of germinoma tumors, there is currently no standardized therapeutic approach for treating them. Therefore, more randomized controlled cohort studies are necessary to evaluate potential treatments and develop a therapeutic approach.
PubMed: 38435909
DOI: 10.7759/cureus.53325 -
Indian Journal of Pathology &... Apr 2024Central nervous system germ cell tumors (CNSGCTs) though rare is the second most common extragonadal site for GCTs.
CONTEXT
Central nervous system germ cell tumors (CNSGCTs) though rare is the second most common extragonadal site for GCTs.
AIMS
To determine the clinicopathological features of CNSGCTs diagnosed at our center.
SETTINGS AND DESIGN
A retrospective study of all histologically diagnosed CNSGCTs, during 2006-2019.
MATERIALS AND METHODS
The patients' data were retrieved from the hospital information systems and analyzed.
STATISTICAL ANALYSIS
Data on categorical variables were analyzed as percentages, and data on continuous variables calculated as mean. Chi-square test or Fisher's exact test was used to study association between variables.
RESULTS
Of the total 34 cases with CNSGCT, age ranged from 1 to 27 years, majority in the second decade (19/34; 56%). Male: female (M: F) ratio was 1.6:1. Single site involvement was seen in 27 cases (27/34; 79%), whereas seven (7/34; 21%) showed bi/multifocal involvement. Among the unifocal cases, common sites involved were suprasellar (12/27; 44.4%), closely followed by the pineal (10/27; 37%). All multifocal tumors affected suprasellar compartment, being bifocal with pineal in four cases. A male gender predilection was noted among pineal region (9/10;90%) and multifocal tumors (5/7;71%). Germinoma was the commonest subtype (21/34; 61.8%) with male gender predilection (17/21; 81%) (M: F =4.3:1), with female predilection seen among mixed GCTs (MGCTs) (8/10; 80%) (M: F =1:4) and suprasellar location (M: F =1:2). Serum tumor markers (25 cases) and CSF markers (7 cases) were concordant with histology in all, except two cases.
CONCLUSION
Though histology and immunohistochemistry were diagnostic, correlation between serum and/or CSF marker was essential to rule out GCT component(s) that may be missed on biopsy due to sampling error.
Topics: Humans; Male; Female; Retrospective Studies; Neoplasms, Germ Cell and Embryonal; Child; Adult; Adolescent; Young Adult; Child, Preschool; Central Nervous System Neoplasms; Infant; Biomarkers, Tumor
PubMed: 38394436
DOI: 10.4103/ijpm.ijpm_959_22 -
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 -
Frontiers in Neurology 2023The removal of pineal region lesions are challenging, and therapeutic strategies for their removal remain controversial. The current study was conducted to identify the...
BACKGROUND
The removal of pineal region lesions are challenging, and therapeutic strategies for their removal remain controversial. The current study was conducted to identify the characteristics and the optimal therapeutic strategies for pineal region lesions.
METHODS
This retrospective study reviewed the treatments of 101 patients with pineal region lesions, and different characteristics and therapeutic strategies were observed.
RESULTS
There were no statistical differences in the total resection ratio, complications, and prognosis outcomes between the hydrocephalus group and non-hydrocephalus group, except patients in the hydrocephalus group were younger and pediatric patients had an increased level of intracranial infections. Treatments of lesions and hydrocephalus secondary to pineal region lesions were two integral parts to therapeutic strategies. For the management of lesions, germinoma or non-germinoma were diagnosed preoperatively, and resection or diagnostic radiation were chosen to deal with pineal region lesions. Endoscopic-assisted surgery provided a higher total resection rate. For the management of hydrocephalus, endoscopic third ventriculostomy (ETV) had the better therapeutic effect. Additionally, cerebrospinal fluid (CSF) diversion before radiotherapy or resection did not improve prognosis outcome, but it was necessary for patients with severe hydrocephalus. Logistical regression analysis indicated that age, lesion size, reoperation ratio, and intracranial complications were predictors of prognosis outcome.
CONCLUSION
More attention should be paid to intracranial infections in pediatric patients with hydrocephalus secondary to pineal region lesions, and CSF diversion before radiotherapy or resection did not promote prognosis outcome, but it was necessary for patients with severe hydrocephalus. Age, lesion size, reoperation ratio, and intracranial complications may be the predictors of prognosis outcome. Most importantly, the surgical algorithm for pineal region lesions which was based on preoperatively diagnosis (non-germinoma and germinoma) is useful, especially for developing countries.
PubMed: 38107642
DOI: 10.3389/fneur.2023.1261054 -
Diagnostics (Basel, Switzerland) Dec 2023The natural course of pineal germ cell tumors (GCTs), particularly their post-operative progression, is not well understood. We report a rare case of pineal region GCT...
The natural course of pineal germ cell tumors (GCTs), particularly their post-operative progression, is not well understood. We report a rare case of pineal region GCT showing rapid enlargement within 2 weeks following surgical resection. A young adult male presented with progressive headache and diplopia for several weeks. Although elevation of β-human chorionic gonadotropin (β-HCG) and α-fetoprotein (AFP) levels suggested that a large pineal mass lesion observed on magnetic resonance imaging (MRI) might be a β-HCG/AFP-producing tumor, whether the mass was truly a GCT remained unclear. We performed an endoscopy-assisted suboccipital infratentorial approach with removal of the tumor that was diagnosed as germinoma via histopathological investigation. During the week preceding chemotherapy, the patient's consciousness rapidly worsened. MRI showed that the residual pineal germinoma had enlarged and even compressed the tectum and thalamus. Emergency chemotherapy and radiotherapy were prescribed, and the patient received invasive ventilation for respiratory failure. Unexpectedly, the patient recovered within a short period. Importantly, total regression of the pineal germinoma, accompanied by β-HCG and AFP levels returning to normal range, was observed 4 months after chemotherapy. These phenomena suggest that the rapid enlargement of the pineal germinoma, which might be induced by aggressive surgical cytoreduction, responds well to chemoradiotherapy.
PubMed: 38066820
DOI: 10.3390/diagnostics13233579