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Neuro-ophthalmology (Aeolus Press) 2022Suprasellar germinomas can present with non-diagnostic, or even normal results on imaging. The spectrum of reported cases ranges from normal imaging, thickened pituitary...
Suprasellar germinomas can present with non-diagnostic, or even normal results on imaging. The spectrum of reported cases ranges from normal imaging, thickened pituitary stalks, to discrete tumour growths. This similar phenomenon is less commonly seen in the pineal region, or bifocal germinomas, and the literature is sparse with only a few case series or reports mentioning a similar presentation of signs and symptoms preceding radiological evidence of diagnosis. We report a case of pineal germinoma presenting with dorsal midbrain syndrome with no evidence of tumour growth on initial imaging despite symptoms. For patients presenting with this clinical radiological latent period, follow-up imaging is useful to identify interval development of germinomas. This applies to patients with dorsal midbrain syndrome, or even other unexplained ophthalmoplegia, as the initial sign of pineal region germinoma, despite normal imaging.
PubMed: 35859628
DOI: 10.1080/01658107.2022.2034890 -
Brain Tumor Research and Treatment Oct 2018Germinoma is the most common type of intracranial germ cell tumors (GCTs). Pineal gland and suprasellar region are the most frequent sites of central nervous system...
Germinoma is the most common type of intracranial germ cell tumors (GCTs). Pineal gland and suprasellar region are the most frequent sites of central nervous system (CNS) involvement. Intracranial masses caused by Langerhans cell histiocytosis (LCH) mimics features of CNS GCTs. LCH frequently involve spine and is the most common cause of vertebra plana in children. A 15-year-old boy presented with progressing symptoms of polydipsia, polyuria, general headache, nausea and severe back pain. Brain MRI showed brain tumor with simultaneous involvement of suprasellar region and pineal gland. An excisional biopsy of suprasellar mass was done. The pathologic assessment confirmed the diagnosis of germinoma. Patient's treatment continued accordingly. A spine MRI, done due to persistent backache, showed a vertebra plana. We reevaluated the primary diagnosis suspecting LCH. Germinoma of CNS was confirmed and a biopsy of vertebral lesion resulted in hemangioma. Thus we report a case of CNS germinoma with co-occurrence of vertebra plana. We emphasized the importance of histopathologic diagnosis of pineal/suprasellar masses and primary investigation of other CNS regions including spine for possible metastasis or comorbidities.
PubMed: 30381920
DOI: 10.14791/btrt.2018.6.e9 -
World Neurosurgery May 2023Obtaining a prompt diagnosis, avoiding indwelling ventriculoperitoneal shunt, and enhancing the predictive value of pathologic examinations are only some of the... (Review)
Review
Obtaining a prompt diagnosis, avoiding indwelling ventriculoperitoneal shunt, and enhancing the predictive value of pathologic examinations are only some of the advantages conferred by a simultaneous third ventriculostomy and tumor biopsy in patients with pineal region tumors. The objective of this study was to retrospectively search the literature on concomitant, single burr hole endoscopic third ventriculostomy (ETV) and tumor biopsy (TB) for pineal region tumors and to analyze the feasibility, surgical safety, and benefits of these 2 combined procedures. Consequently, a comprehensive, systematic literature search was performed in compliance with the updated PRISMA 2020 guidelines within electronic databases MEDLINE/PubMed, EMBASE, PLOS, and Cochrane Library. Statistical analysis was performed with IBM SPSS 28.0.1.1(14), using Kendall's and Spearman's tests, with a P < 0.05 considered significant. A total of 25 studies were selected and included in this review, for a total of 368 patients (mean age 20.6 years; range 1-86 years; SD 17.5). More than two-thirds of the procedures were operated with a rigid endoscope and 27.6% were performed with either a flexible endoscope, a combination of the 2, or not otherwise specified. Germinoma represented the most frequent diagnosis (20.1%) followed by astrocytoma (12.9%) and pineocytoma (9.9%). The single-entry approach allowed a correct histologic diagnosis in 88.7% of the examined cases. Summing up, concomitant ETV and TB represent a valuable option for the management of non-communicating hydrocephalus and the initial assessment of pineal region tumors. The histologic confirmation rate was 88.7% in the examined cohort, with only 10% of the biopsies yielding inconclusive results.
Topics: Humans; Young Adult; Adult; Ventriculostomy; Retrospective Studies; Feasibility Studies; Third Ventricle; Pineal Gland; Pinealoma; Neuroendoscopy; Biopsy; Hydrocephalus; Brain Neoplasms
PubMed: 36764448
DOI: 10.1016/j.wneu.2023.01.082 -
Journal of Personalized Medicine Jul 2021Intracranial germinomas are rare tumours, usually affecting male paediatric patients. They frequently develop in the pineal and suprasellar regions, causing... (Review)
Review
Intracranial germinomas are rare tumours, usually affecting male paediatric patients. They frequently develop in the pineal and suprasellar regions, causing endocrinological disturbances, visual deficits, and increased intracranial pressure. The diagnosis is established on magnetic resonance imaging (MRI), serum and cerebrospinal fluid (CSF) markers, and tumour stereotactic biopsy. Imaging techniques, such as susceptibility-weighted imaging (SWI), T2* (T2-star) gradient echo (GRE) or arterial spin labelling based perfusion-weighted MRI (ASL-PWI) facilitate the diagnosis. Germinomas are highly radiosensitive tumours, with survival rates >90% in the context of chemoradiotherapy. However, patients with resistant disease have limited therapeutic options and poor survival. The aim of this review is to highlight the genetic, epigenetic, and immunologic features, which could provide the basis for targeted therapy. Intracranial germinomas present genetic and epigenetic alterations (chromosomal aberrations, , and pathways mutations, DNA hypomethylation, miRNA dysregulation) that may represent targets for therapy. Tyrosine kinase and inhibitors warrant further investigation in these cases. Immune markers, PD-1 (programmed cell death protein 1) and PD-L1 (programmed death-ligand 1), are expressed in germinomas, representing potential targets for immune checkpoint inhibitors. Resistant cases should benefit from a personalized management: genetic and immunological testing and enrolment in trials evaluating targeted therapies in intracranial germinomas.
PubMed: 34357128
DOI: 10.3390/jpm11070661 -
American Journal of Ophthalmology Case... Sep 2022To report a case of bilateral ocular paraneoplastic syndrome by seminoma/germinoma in thymus and pineal glands, two primary lesions.
PURPOSE
To report a case of bilateral ocular paraneoplastic syndrome by seminoma/germinoma in thymus and pineal glands, two primary lesions.
OBSERVATIONS
A 18-year-old male presented at a local clinic complaining of just floaters in left eye without any other clinical signs and symptoms. The treating ophthalmologist found bilateral uveitis, and referred to our hospital. Bilateral retinal periphlebitis and optic disc swelling were shown. Vitreous opacity was found in left eye. We started ocular and systemic examinations to identify the cause of the uveitis, and also initiated oral steroid therapy. The survey using aqueous humor and blood samples showed no specific results for his uveitis. Computer tomography (CT) and magnetic resonance imaging (MRI) detected tumors in thymus and pineal glands. Five months after his first visit, the tumor in his thymus was resected, and was diagnosed as a seminoma/germinoma by pathological examination. Three months later, the tumor in the pineal gland was diagnosed as a germinoma by biopsy followed by chemotherapy and focal radiotherapy. Finally no abnormal ocular finding but slight optic disc atrophy was ascertained.
CONCLUSIONS AND IMPORTANCE
This is a case of ocular paraneoplastic syndrome induced by seminoma/germinoma in thymus and pineal glands, two primary lesions. Systemic screening by CT and MRI enables prompt diagnosis, treatment and favorable clinical course for such pathogenesis.
PubMed: 35647392
DOI: 10.1016/j.ajoc.2022.101589 -
JCO Global Oncology Apr 2023This prospective Brazilian single-arm trial was conducted to determine response to chemotherapy and survival after response-based radiotherapy in children with...
PURPOSE
This prospective Brazilian single-arm trial was conducted to determine response to chemotherapy and survival after response-based radiotherapy in children with intracranial germinomas, in the setting of a multi-institutional study in a middle-income country (MIC) with significant disparity of subspecialty care.
PATIENTS AND METHODS
Since 2013, 58 patients with histologic and/or serum and CSF tumor marker evaluations of primary intracranial germ cell tumors were diagnosed; 43 were germinoma with HCGβ levels ≤200 mIU/mL and five between 100 and 200 mIU/mL. The treatment plan consisted of four cycles of carboplatin and etoposide followed by 18 Gy whole-ventricular field irradiation (WVFI) and primary site(s) boost up to 30 Gy; 24 Gy craniospinal was prescribed for disseminated disease.
RESULTS
Mean age 13.2 years (range, 4.7-25.5 years); 29 were males. Diagnosis was made by tumor markers (n = 6), surgery (n = 25), or both (n = 10). Two bifocal cases with negative tumor markers were treated as germinoma. Primary tumor location was pineal (n = 18), suprasellar (n = 14), bifocal (n = 10), and basal ganglia/thalamus (n = 1). Fourteen had ventricular/spinal spread documented by imaging studies. Second-look surgery occurred in three patients after chemotherapy. Thirty-five patients achieved complete responses after chemotherapy, and eight showed residual teratoma/scar. Toxicity was mostly grade 3/4 neutropenia/thrombocytopenia during chemotherapy. At a median follow-up of 44.5 months, overall and event-free survivals were 100%.
CONCLUSION
The treatment is tolerable, and WVFI dose reduction to 18 Gy preserves efficacy; we have demonstrated the feasibility of successfully conducting a prospective multicenter trial in a large MIC despite resource disparity.
Topics: Male; Humans; Child; Adolescent; Female; Prospective Studies; Brazil; Retrospective Studies; Brain Neoplasms; Germinoma; Biomarkers, Tumor
PubMed: 37075267
DOI: 10.1200/GO.22.00257 -
Frontiers in Oncology 2022CNS germ cell tumors (GCTs) preferentially occur in pediatric and adolescent patients. GCTs are located predominantly in the neurohypophysis and the pineal gland.... (Review)
Review
CNS germ cell tumors (GCTs) preferentially occur in pediatric and adolescent patients. GCTs are located predominantly in the neurohypophysis and the pineal gland. Histopathologically, GCTs are broadly classified into germinomas and non-germinomatous GCTs (NGGCTs). In general, germinoma responds well to chemotherapy and radiation therapy, with a 10-year overall survival (OS) rate of approximately 90%. In contrast, NGGCTs have a less favorable prognosis, with a five-year OS of approximately 70%. Germinomas are typically treated with platinum-based chemotherapy and whole-ventricular radiation therapy, while mature teratomas can be surgically cured. Other NGGCTs require intensive chemotherapy with radiation therapy, including whole brain or craniospinal irradiation, depending on the dissemination status and protocols. Long-term treatment-related sequelae, including secondary neoplasms and cerebrovascular events, have been well recognized. These late effects have a tremendous impact in later life, especially since patients are mostly affected in childhood or young adults. Intending to minimize the treatment burden on patients, the identification of biomarkers for treatment stratification and evaluation of treatment response is of critical importance. Recently, tumor cell content in germinomas has been shown to be closely related to prognosis, suggesting that cases with low tumor cell content may be safely treated with a less intensive regimen. Among the copy number alterations, the 12p gain is the most prominent and has been shown to be a negative prognostic factor in NGGCTs. MicroRNA clusters (mir-371-373) were also revealed to be a hallmark of GCTs, demonstrating the potential for the application of liquid biopsy in the diagnosis and detection of recurrence. Recurrent mutations have been detected in the MAPK or PI3K pathways, most typically in and and low genome-wide methylation has been demonstrated in germinoma; this most likely reflects the cell-of-origin primordial germ cells for this tumor type. These alterations can also be leveraged for liquid biopsies of cell-free DNA and may potentially be targeted for treatment in the future. Advancements in basic research will be translated into clinical practice and can directly impact patient management. Additional understanding of the biology and pathogenesis of GCTs will lead to the development of better-stratified clinical trials, ultimately resulting in improved treatment outcomes and a reduction in long-term treatment-related adverse effects.
PubMed: 36132131
DOI: 10.3389/fonc.2022.982608 -
Cureus Oct 2022Pineal gland tumours are reported rarely in Malayasia and early diagnosis and intervention promise a better prognosis for patients. We report a rare case of pineal gland...
Pineal gland tumours are reported rarely in Malayasia and early diagnosis and intervention promise a better prognosis for patients. We report a rare case of pineal gland tumour with drop metastases in the fourth ventricle in a 20-year-old young male with Parinaud syndrome. The patient, who had no underlying medical illnesses, presented with neurological symptoms and limb weakness associated with tremors and blurring of vision which worsened over a span of four months. The patient was having difficulty in ambulating with reduced power over the lower limbs with tremors as well as Parinaud syndrome indicated through the limitation of upward gaze, light-near dissociation of the pupils and convergence nystagmus. An MRI showed the presence of a pineal gland tumour with drop metastases in the fourth ventricle with calcification. The patient underwent an endoscopic third ventriculostomy and tumour biopsy. The biopsy indicated a pineal gland tumour with a germinoma subset and the patient was subjected to radiotherapy. Latency of diagnosis is an important prognostic factor as it reduces the survival rate for these patients hence the following discussion on the pineal gland tumour and its diagnostic dilemma.
PubMed: 36204259
DOI: 10.7759/cureus.29855 -
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 -
The Oncologist Jun 2008Central nervous system (CNS) germ cell tumors (GCTs) represent approximately 3% of primary pediatric brain tumors and encompass a wide pathologic spectrum. CNS GCTs are... (Review)
Review
Central nervous system (CNS) germ cell tumors (GCTs) represent approximately 3% of primary pediatric brain tumors and encompass a wide pathologic spectrum. CNS GCTs are most commonly located in the pineal and suprasellar regions of the brain and can be divided into major groups including germinomas and nongerminomatous GCTs (NGGCTs), with teratomas often considered a separate category. The clinical presentation varies by location and size, and it frequently includes endocrine abnormalities, visual changes, and signs of increased intracranial pressure. Neuroimaging studies cannot differentiate GCTs from other tumors, and therefore, the diagnosis usually requires histologic confirmation. The rare exceptions are the cases where characteristic elevations of tumor markers, including alpha-fetoprotein and/or beta-human chorionic gonadotropin are documented in the serum and/or cerebrospinal fluid. In these cases, the imaging findings along with the tumor marker elevation may be diagnostic in themselves without the need for tissue confirmation. Treatment and prognosis differ greatly between groups. Germinomas have a superior prognosis than NGGCTs. Five-year overall survival rates >90% were reported initially with the use of craniospinal irradiation. More recently, the use of chemotherapy in addition to radiation therapy has afforded the ability to decrease the dose and volume of radiation therapy without affecting survival rates. NGGCTs are less radiosensitive than germinomas, but the use of adjuvant chemotherapy has improved survival rates in this group as well. The standard management for CNS GCTs remains controversial. Treatment regimens aimed to improve progression-free and overall survival times are ongoing.
Topics: Central Nervous System Neoplasms; Child; Combined Modality Therapy; Humans; Neoplasms, Germ Cell and Embryonal
PubMed: 18586924
DOI: 10.1634/theoncologist.2008-0037