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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 -
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 -
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 -
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 -
Neuro-oncology Advances 2023Germinomas are sensitive to radiation and chemotherapy, and their management distinctly differs from other kinds of pineal region tumors. The aim of this study was to...
BACKGROUND
Germinomas are sensitive to radiation and chemotherapy, and their management distinctly differs from other kinds of pineal region tumors. The aim of this study was to construct a prediction model based on clinical features and preoperative magnetic resonance (MR) manifestations to achieve noninvasive diagnosis of germinomas in pineal region.
METHODS
A total of 126 patients with pineal region tumors were enrolled, including 36 germinomas, 53 nongerminomatous germ cell tumors (NGGCTs), and 37 pineal parenchymal tumors (PPTs). They were divided into a training cohort ( = 90) and a validation cohort ( = 36). Features were extracted from clinical records and conventional MR images. Multivariate analysis was performed to screen for independent predictors to differentiate germ cell tumors (GCTs) and PPTs, germinomas, and NGGCTs, respectively. From this, a 2-step nomogram model was established, with model 1 for discriminating GCTs from PPTs and model 2 for identifying germinomas in GCTs. The model was tested in a validation cohort.
RESULTS
Both model 1 and model 2 yielded good predictive efficacy, with c-indexes of 0.967 and 0.896 for the diagnosis of GCT and germinoma, respectively. Calibration curve, decision curve, and clinical impact curve analysis further confirmed their predictive accuracy and clinical usefulness. The validation cohort achieved areas under the receiver operating curves of 0.885 and 0.926, respectively.
CONCLUSIONS
The 2-step model in this study can noninvasively differentiate GCTs from PPTs and further identify germinomas, thus holding potential to facilitate treatment decision-making for pineal region tumors.
PubMed: 37706201
DOI: 10.1093/noajnl/vdad094 -
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 -
Cureus Jul 2023Convergence-retraction nystagmus alongside behavioral changes can be rare manifestations of a potentially life-threatening midbrain lesion. After experiencing headaches...
Convergence-retraction nystagmus alongside behavioral changes can be rare manifestations of a potentially life-threatening midbrain lesion. After experiencing headaches for three months, a 13-year-old boy was diagnosed with depression due to exhibiting reduced speech, hypersomnia, and psychomotor slowing for three weeks. It was preceded by headache for three months. Examination revealed visual acuity of 6/6 bilaterally, convergence-retraction nystagmus worst on upgaze, limited bilateral ocular motility in upgaze, and light-near dissociation on pupil examination, all of which point towards Parinaud's syndrome. However, there was no lid retraction to suggest Collier's sign. Fundus examination revealed papilledema. Magnetic resonance imaging showed a large pineal mass extending to both thalami, dilated ventricles due to obstructive hydrocephalus, and cerebral edema. An urgent external ventricular drain was inserted, and biopsy revealed pineal gland germinoma. Chemotherapy and radiotherapy resulted in adequate tumor shrinkage. This case report highlights that subacute behavioral changes may mask a potentially life-threatening intracranial tumor, especially when associated with abnormal eye movement.
PubMed: 37637548
DOI: 10.7759/cureus.42497 -
Acta Endocrinologica (Bucharest,... 2023Intracranial germ cell tumors (GCTs) include two categories: germinoma and non germinoma. The pineal gland and suprasellar are the most common site of involvement. The...
Intracranial germ cell tumors (GCTs) include two categories: germinoma and non germinoma. The pineal gland and suprasellar are the most common site of involvement. The patient is a 14-year-old boy who presented with paralysis of upward gaze, polyuria, polydipsia and diplopia. Examination of vertical eye movements was impaired. Puberty then progressed to stage 3 of Marshall - Tanner and had stopped. In laboratory studies, the patient had anterior hypopituitarism and diabetes insipidus (DI). In pituitary and hypothalamic MRIs, a mass-like enlargement of the pituitary stalk and pineal region was seen, but due to the small size of the lesions, stereotactic biopsy was not possible. During this time, the patient developed recurrent attacks of hydrocephalus. Serum and CSF β-subunit of Human chorionic gonadotropin levels were negative. Treatment was not started because different lesions could cause disease in this area. After one year, a biopsy was performed and the germ cell tumor was diagnosed. Chemotherapy was started and after treatment the vision disorder and diplopia disappeared, but DI and pituitary dysfunction remained. Treatment of intracranial germinoma is multidisciplinary. GCTs are very sensitive to radiation therapy. They are treated with combination of chemotherapy, radiotherapy, surgery, endocrine therapy and have a good prognosis.
PubMed: 37601706
DOI: 10.4183/aeb.2023.99 -
Folia Neuropathologica 2023BCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain...
BCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and germinoma, to assess a potential involvement of BCOR in these tumours. Levels of BCOR RNA expression were investigated by NanoString nCounter system analysis in a series of altogether 66 high grade paediatric tumours, including four pineoblastoma cases. Immunohistological detection of BCOR was performed in eight pineoblastoma, five germinoma and four atypical teratoid rhabdoid tumours (ATRTs), all located in the pineal region. We detected BCOR expression in all pineoblastomas, at the RNA and protein levels, but not in germinomas and ATRTs. Further analysis of pineoblastoma samples did not reveal the presence of either BCOR internal tandem duplication or BCOR fusion involvement. Positive immunohistological BCOR nuclear reaction in pineoblastoma may therefore differentiate this type of tumour from other high grade tumours located in the pineal region.
Topics: Humans; Child; Pinealoma; Brain Neoplasms; Germinoma; RNA; Rhabdoid Tumor; Pineal Gland; Proto-Oncogene Proteins; Repressor Proteins
PubMed: 37587886
DOI: 10.5114/fn.2023.129377