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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 -
Surgical Neurology International 2023Intracranial germinomas are rare tumors, accounting for 0.5-2% of primary intracranial neoplasms. While they typically occur in the pineal gland, suprasellar region,...
BACKGROUND
Intracranial germinomas are rare tumors, accounting for 0.5-2% of primary intracranial neoplasms. While they typically occur in the pineal gland, suprasellar region, basal ganglia, and thalamus, germinomas arising in the medulla oblongata are exceptionally rare. Diagnosis of medulla oblongata germinoma is challenging, potentially leading to misdiagnosis and poor prognosis.
CASE DESCRIPTION
We present a case of a 29-year-old man complaining of left leg numbness. Radiological findings revealed a contrast-enhanced lesion in the medulla oblongata. The patient underwent tumor biopsy, and intraoperative pathological diagnosis (IOD) suspected the diagnosis of medulla oblongata germinoma. He underwent chemoradiotherapy after confirming the diagnosis of germinoma. Intracranial germinoma arising in the medulla oblongata differs from germinomas in other locations due to its higher incidence in individuals in their 20s and a slight female predominance.
CONCLUSION
When encountering lesions in the medulla oblongata, germinoma should be considered as one of the differential diagnoses, and surgical strategies including IOD should be planned accordingly.
PubMed: 37941640
DOI: 10.25259/SNI_682_2023 -
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 -
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 -
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 -
BMC Pediatrics Sep 2023Extracranial metastasis can occur in intracranial germ cell tumors (GCTs), but it is very rare. Recurrence or metastasis of non-germinomatous germ cell tumors... (Review)
Review
BACKGROUND
Extracranial metastasis can occur in intracranial germ cell tumors (GCTs), but it is very rare. Recurrence or metastasis of non-germinomatous germ cell tumors (NGGCTs) is often accompanied by elevated tumor markers. Occult extracranial metastases or recurrences with negative markers are often difficult to detect in time, resulting in a very poor prognosis.
CASE PRESENTATION
A 12-year-old boy was admitted to our institution with dizziness, headache, vomiting, and sleepiness. Magnetic resonance imaging (MRI) showed a pineal mass, accompanied by a significant increase in serum alpha-fetoprotein (AFP). The patient subsequently underwent total removal of the tumor. Pathology revealed that the tumor was a mixed GCT, consisting of mature teratoma, germinoma, and yolk sac tumor. Intracranial GCT achieved complete remission after intensive adjuvant chemotherapy and radiotherapy. Regular follow-up MRI revealed no recurrence of the intracranial tumor and continued monitoring of tumor markers revealed no abnormalities. Eight months later, the patient was readmitted due to progressive abdominal pain. Imaging and physical examination revealed abdominal occupation and lymphatic mass in the neck. He received salvage chemotherapy, anti-PD-1 immunotherapy, and palliative chemotherapy, but still developed multiple organ dysfunction syndromes (MODS) due to tumor progression and eventually died after one month.
CONCLUSIONS
This profound case suggests that intracranial NGGCTs may develop occult extracranial malignancy, which can be very severe at the time of clinical symptoms and has an extremely poor prognosis. Therefore, in addition to tumor marker monitoring, regular follow-up with extracranial imaging may be warranted to detect extracranial tumors as early as possible, although perhaps not as frequently as with neuroimaging.
Topics: Male; Humans; Child; Neoplasms, Germ Cell and Embryonal; Teratoma; Brain Neoplasms; Dermoid Cyst; Biomarkers, Tumor
PubMed: 37679697
DOI: 10.1186/s12887-023-04213-9 -
Case Reports in Oncology 2023Tumors of the pineal region typically present with symptoms and signs of mass effect and increased intracranial pressure. However, although rare and can be overlooked,...
Tumors of the pineal region typically present with symptoms and signs of mass effect and increased intracranial pressure. However, although rare and can be overlooked, hearing impairment is a potential clinical finding in these cases. The authors describe a 24-year-old male who presented to the emergency room complaining of bilateral hearing impairment. Brain computed tomography showed a pineal region tumor. Histopathological examination demonstrated features consistent with germinoma. This case reports a rare presentation rarely seen in the literature and in practice as evident by the conducted literature review. Therefore, we highlight the importance of considering hearing impairment as a presenting symptom of pineal region tumors since prompt recognition and intervention, as demonstrated in this case, can lead to successful outcomes.
PubMed: 37900842
DOI: 10.1159/000533518 -
Frontiers in Oncology 2023Germ cell tumors (GCT) account for a minority of central nervous system (CNS) malignancies, highly prevalent in adolescents and young adults. Despite their aggressive...
Unraveling the impact of upfront chemotherapy and proton beam therapy on treatment outcome and follow-up in central nervous system germ cell tumors: a single center experience.
BACKGROUND
Germ cell tumors (GCT) account for a minority of central nervous system (CNS) malignancies, highly prevalent in adolescents and young adults. Despite their aggressive biological behavior, prognosis is excellent in most cases with risk stratified treatment, consisting in a combination of chemotherapy and radiotherapy. Whole ventricular irradiation (WVI) and craniospinal irradiation, the treatment of choice for localized and metastatic disease, pose significant risk of collateral effects, therefore proton beam radiation (PBT) has been recently proposed for its steep dose fallout.
MATERIALS AND METHODS
We report our experience in a consecutive series of 17 patients treated for CNS GCT at our Institution from 2015 to 2021.
RESULTS
Most frequent lesion location were sellar/suprasellar (35%) and bifocal germinoma (35%), followed by pineal (18%) and thalamic (12%). Two patients (12%), had evidence of disseminated disease at the time of diagnosis. At the latest follow-up all but one patient showed complete response to treatment. The only relapse was successfully rescued by additional chemotherapy and PBT. PBT was well tolerated in all cases. No visual, neurological or endocrinological worsening was documented during and after treatment. Neuropsychological evaluation demonstrated preservation of cognitive performance after PBT treatment.
CONCLUSIONS
Our data, albeit preliminary, strongly support the favourable therapeutic profile of PBT for the treatment of CNS germ cell tumors.
PubMed: 37860194
DOI: 10.3389/fonc.2023.1259403 -
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 -
Cureus Sep 2023Central diabetes insipidus (CDI) is a rare condition characterized by excessive urination and thirst due to vasopressin deficiency. The underlying cause of CDI remains...
Central diabetes insipidus (CDI) is a rare condition characterized by excessive urination and thirst due to vasopressin deficiency. The underlying cause of CDI remains unknown in many cases. Tumors are a leading cause of CDI in young individuals, with germinoma being the most prevalent. We present a case of a 22-year-old male diagnosed with infundibuloneurohypophysitis (INH) of unknown etiology. His pituitary stalk thickening partially responded to high-dose prednisone treatment; however, one year after initial diagnosis, a new pineal region mass was noted on imaging. Further evaluation revealed the mass to be most likely a germinoma. This case emphasizes the importance of ongoing clinical and radiologic follow-up in idiopathic cases of CDI. The patient's symptoms improved with desmopressin, but the presence of the pineal mass necessitates further comprehensive neurosurgical evaluation.
PubMed: 37900440
DOI: 10.7759/cureus.46103