-
Frontiers in Endocrinology 2021Intracranial germ cell tumors (GCTs) are relatively rare, which account for 0.5% of all primary intracranial neoplasms. Intracranial germinomas most commonly occur in... (Review)
Review
Intracranial germ cell tumors (GCTs) are relatively rare, which account for 0.5% of all primary intracranial neoplasms. Intracranial germinomas most commonly occur in the pineal and suprasellar region, making up the majority of all intracranial GCTs. For its diversified clinical manifestations, the diagnosis is easily confused with other diseases. Here, we present a case of a 19-year-old boy with intracranial germinoma who was preliminarily misdiagnosed as hyperthyroidism for the symptoms of weight loss and thyroid dysfunction.
Topics: Adrenal Insufficiency; Brain Neoplasms; Diagnostic Errors; Germinoma; Humans; Hyperprolactinemia; Hyperthyroidism; Hypogonadism; Magnetic Resonance Imaging; Male; Thyrotropin; Thyroxine; Triiodothyronine; Young Adult
PubMed: 35140682
DOI: 10.3389/fendo.2021.789109 -
NMC Case Report Journal 2021Although the synchronous occurrence of testicular seminoma and systemic sarcoidosis has been reported, that of intracranial germinoma and systemic sarcoidosis is...
Although the synchronous occurrence of testicular seminoma and systemic sarcoidosis has been reported, that of intracranial germinoma and systemic sarcoidosis is unknown. A 26-year-old man presented with symptoms of panhypopituitarism and consciousness disturbance. Imaging demonstrated a large nodule in the upper right lung field and swelling of multiple bilateral pulmonary and mediastinal lymph nodes in addition to the bifocal pineal and suprasellar tumors with obstructive hydrocephalus. The pathological diagnosis of the intracranial bifocal tumors was pure germinoma, whereas that of the mediastinal lymph nodes was epithelioid granuloma. Three courses of chemotherapy using carboplatin and etoposide were administered, followed by whole ventricle irradiation. The intracranial tumors completely disappeared, but the lung nodule and mediastinal lymph nodes progressed. Whole-body fluorine-18-fluorodeoxyglucose positron emission tomography demonstrated accumulation in the mediastinal lymphadenopathy, lung masses, and multiple lymph nodes of the whole body. Transbronchial lung biopsy revealed epithelioid granuloma with multinucleated giant cells. In conjunction with the high blood concentration of angiotensin-converting enzyme and soluble interleukin-2 receptor, these findings established a diagnosis of sarcoidosis. This is the first report of synchronous occurrence of intracranial germinoma and sarcoidosis. Such coexistence is extremely rare, but we should mind that sarcoidosis can occur with intracranial germinoma.
PubMed: 35079529
DOI: 10.2176/nmccrj.cr.2021-0078 -
Neurology India 2023Primary intracranial germ cell tumors (ICGCTs) are rare and are histologically classified as germinomas and non-germinomatous with distinctive prognostic and therapeutic...
BACKGROUND AND OBJECTIVE
Primary intracranial germ cell tumors (ICGCTs) are rare and are histologically classified as germinomas and non-germinomatous with distinctive prognostic and therapeutic implications. ICGCTs, essentially due to the inherent difficulty of surgical access, pose different challenges and management connotations than their extracranial counterparts. This is a retrospective analysis of histologically verified ICGCTs, which was undertaken to evaluate various clinicopathological features and their implications on patient management.
MATERIALS AND METHODS
Eighty-eight histologically diagnosed cases (over 14 years) of ICGCT at our institute formed the study cohort and were classified into germinoma and non-germinomatous germ cell tumors (NGGCTs). Additionally, germinomas were further subdivided on the basis of 1) tumor marker (TM) levels, as germinoma with normal TM, mildly elevated TM, and markedly elevated TM and 2) radiology features, as germinomas with typical radiology and atypical radiological features.
RESULTS
ICGCT with age ≤6 years (P = 0.049), elevated TM (P = 0.047), and NGGCT histology (P < 0.001) showed significantly worse outcomes. Furthermore, germinomas with markedly elevated TM and certain atypical radiological features showed prognosis akin to NGGCT.
CONCLUSIONS
Analysis of our largest single cancer center Indian patient cohort of ICGCT shows that inclusion of age ≤6 years, raised TM, and certain radiological features may assist clinicians in overcoming the limitations of surgical sampling, with better prognostication of histologically diagnosed germinomas.
Topics: Humans; Child; Brain Neoplasms; Neoplasms, Germ Cell and Embryonal; Retrospective Studies; Germinoma; Prognosis
PubMed: 37322747
DOI: 10.4103/0028-3886.378644 -
Insights Into Imaging Jun 2013Pineal lesions can present as a heterogeneous collection of benign and malignant disease conditions. Pineal lesions include germ cell tumours, neoplasms arising from the...
OBJECTIVES
Pineal lesions can present as a heterogeneous collection of benign and malignant disease conditions. Pineal lesions include germ cell tumours, neoplasms arising from the pineal parenchyma, as well as other pineal region masses.
METHODS
A variety of cases of pineal lesions are presented. The important clinical features and typical imaging findings of each pineal lesion are described with emphasis on their morphological appearance and signal intensity characteristics on magnetic resonance imaging (MRI).
CONCLUSION
Knowledge of the imaging characteristics and clinical features of varying pineal lesions can assist in narrowing the differential diagnosis for more accurate and rational therapeutic planning.
TEACHING POINTS
• Pineal parenchymal tumours show an "explosion" of normal pineal calcifications towards the periphery. • Pineoblastomas often have restricted diffusion, with apparent diffusion coefficient (ADC) values lower than germinomas. • Pineal teratomas and pineal lipomas display fat signal characteristics and fat saturation on MRI. • Pineal lesions in patients with known malignancy should raise suspicion of metastatic involvement. • Pineal cysts and arachnoid cysts show MRI signal characteristics similar to cerebrospinal fluid (CSF).
PubMed: 23640020
DOI: 10.1007/s13244-013-0248-6 -
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 -
American Journal of Ophthalmology Case... Jun 2018To describe a unilateral ocular paraneoplastic syndrome in pineal germinoma.
PURPOSE
To describe a unilateral ocular paraneoplastic syndrome in pineal germinoma.
OBSERVATIONS
A 24-year-old male presented with diplopia, excessive thirst, and frequent urination. Cranial MRI showed a mass in pineal gland. Dorsal midbrain syndrome signs were present. Examination showed optic disc edema and segmental retinal periphlebitis in right and normal fundus in left eye. Rheumatologic work-up was negative. Brain biopsy confirmed pineal germinoma. Retinal findings were attributed to paraneoplastic syndrome. Resolution of optic disc edema and retinal periphlebitis occurred following chemotherapy and focal irradiation.
CONCLUSIONS
and importance: To date there are two published case reports on bilateral optic disc edema and retinal periphlebitis occurring as a paraneoplastic syndrome in pineal germinoma. This is the first report on a patient with pineal germinoma who had unilateral paraneoplastic involvement characterized by optic disc edema and retinal periphlebitis and who showed complete resolution of ocular disease after treatment of underlying tumor.
PubMed: 29780941
DOI: 10.1016/j.ajoc.2018.03.013 -
Emergency irradiation of 3.4Gy/2f in pineal gland germinoma patients with symptomatic hydrocephalus.Chinese Neurosurgical Journal 2019Surgical interventions including ventriculostomy and ventriculo-peritoneal shunt were usually administrated in pineal germ cell tumor patients with symptomatic...
BACKGROUND
Surgical interventions including ventriculostomy and ventriculo-peritoneal shunt were usually administrated in pineal germ cell tumor patients with symptomatic hydrocephalus. Considering higher sensitivity of germinoma to anti-tumor therapy, we explored emergency irradiation as non-invasive measure in this situation.
METHODS
Data of 35 germinoma patients with symptomatic hydrocephalus who received emergency irradiation of 3.4 Gy/2f were studied retrospectively. The maximum width of frontal horn and the minimum width of trunk of corpus callosum (TCC) were measured to evaluate hydrocephalus changing. Besides, mean deviation (MD) of Humphrey perimetry was employed to evaluate visual field defect. Correlations between hydrocephalus changing and clinical factors, including age, percentage of tumor regression, radiographic re-evaluation interval, and serum beta-human chorionic gonadotropin (β-HCG) level, were analyzed.
RESULTS
The median maximum diameter and volume of pineal lesions was 27 mm (range 10-55 mm) and 6.5cm (range 0.4-74.1 cm), respectively. At median 8 days after irradiation, the median percentage of tumor remission was 55% (range 10-100%). The median maximum width of FN and the median minimum width of TCC were 11.6 mm and 39.0 mm, and 8.0 mm and 31.4 mm, before and after irradiation, respectively. The improvement of both parameters reached significant level ( < 0.001). However, none clinical factor was found to have correlation with their improvement. In 14 patients with paired data of pre- and post-irradiation MD, its change did not reach the significant level for both eyes. All patients successfully received subsequent chemoradiotherapy without surgical intervention.
CONCLUSIONS
Emergency irradiation of 3.4 Gy/2f was an effective non-invasive measure to relief hydrocephalus in pineal germinoma patients.
PubMed: 32922913
DOI: 10.1186/s41016-019-0160-0 -
Cancer Control : Journal of the Moffitt... 2022The correlations of epidemiological characteristics and clinical outcomes with different tumor sites in patients with intracranial typical site germinomas (ICTSGs) have...
Epidemiology, Management, and Long-Term Survival Outcomes of Intracranial Typical Site Germinomas: An Analysis of the Surveillance, Epidemiology, and End-Results (SEER) Database.
BACKGROUND
The correlations of epidemiological characteristics and clinical outcomes with different tumor sites in patients with intracranial typical site germinomas (ICTSGs) have not yet been well established. We analyzed ICTSGs using a multicenter database, focusing on its demographic, management patterns, and long-term survival outcomes.
METHODS
Patients diagnosed with ICTSGs were selected from the Surveillance, Epidemiology, and End-Results (SEER) database. Demographic information and management patterns of ICTSGs were extracted for data analysis stratified by different tumor sites. Kaplan-Meier curves were used to evaluate the survival outcome stratified by treatment, tumor site and tumor size.
RESULTS
Among the 327 patients enrolled in the study, 16.21% had tumors located in the suprasellar region and 83.79% in the pineal region. The proportion of males was significantly higher among pineal germinomas (94.16 vs 66.04%; < .001). Smaller tumors (<24 mm) were more common in the suprasellar region (37.74 vs 18.87%; < .001). A higher percentage of patients with suprasellar germinomas underwent surgery. Radiotherapy (RT) and chemotherapy (CT) was, respectively, administered to 82.97 and 60.61% of patients during the treatment period, with no significant difference between suprasellar and pineal germinomas. CT plus RT was the most common treatment modality for both pituitary (30.19%) and pineal (33.94%) germinomas. Both RT and CT were associated with improved long-term survival. No survival difference was observed between suprasellar and pineal germinomas.
CONCLUSIONS
Despite significant differences in epidemiology and management, pineal and suprasellar germinomas had a similar long-term clinical outcome.
Topics: Brain Neoplasms; Germinoma; Humans; Male; Pineal Gland; Skull Base Neoplasms
PubMed: 35446714
DOI: 10.1177/10732748221095944 -
Chinese Neurosurgical Journal 2018The pineal region tumors are surrounded by important structures. Neuroendoscopy has been increasingly used at home and abroad. This study is to simulate pure...
BACKGROUND
The pineal region tumors are surrounded by important structures. Neuroendoscopy has been increasingly used at home and abroad. This study is to simulate pure neuroendoscopic infratentorial supracerebellar approach for resection of pineal region tumor from the cadaveric head, and discuss the advantages and safety through this corridor.
METHODS
The anatomical structure for resection of pineal region tumor was visualized through pure neuroendoscopic infratentorial supracerebellar approach in three cadaveric heads. Three cases with pineal region tumors were retrospectively analyzed and summarized between June 2017 and December 2017. All cases were operated through pure neuroendoscopic infratentorial supracerebellar approach in the first affiliated hospital of Fujian medical university.
RESULTS
The anatomical structures of pineal region can be completely visualized by pure neuroendoscopic infratentorial supracerebellar corridor in the cadaveric head. Among the three cases, the first case was total resection, the second case was subtotal resection and the last case was partial resection. The postoperative pathology revealed cavernous hemangioma, germinoma and yolk sac tumor, respectively. The patients were followed-up for 1-6 months and had normal life.The KPS (karnofsky performance status) score was 100.
CONCLUSION
The anatomical structure of the pineal region can be completely visualized and the tumor can be safely removed through pure neuroendoscopic infratentorial supracerebellar approach.
PubMed: 32922879
DOI: 10.1186/s41016-018-0127-6 -
Anales de Pediatria (Barcelona, Spain :... Jan 2017Intracranial germ cell tumours are rare in children. They are a heterogeneous group of neoplasms that show different clinical manifestations despite having a common...
INTRODUCTION
Intracranial germ cell tumours are rare in children. They are a heterogeneous group of neoplasms that show different clinical manifestations despite having a common origin.
PATIENTS AND METHODS
A retrospective analysis was carried out on the epidemiological and histological characteristics, clinical manifestations, and outcomes of 20 patients diagnosed with intracranial germ cell tumours in the Niño Jesús Children's Hospital of Madrid from 1994-2014.
RESULTS
A total of 20 patients were identified: 14 boys and 6 girls. The mean age was 11.1 years (range 2-18 years). Histological confirmation of the diagnosis was obtained in 95% of the patients. Of the 20 patients, 14 were pure germinoma (70%) and 6 non-seminomatous germ cell tumours (30%). The most frequent locations were pineal (45%) and suprasellar (45%). The most frequent clinical symptoms in pineal tumours at diagnosis were headache and vomiting (77.77%), followed by visual disturbances (44.4%). In suprasellar tumours it was polydipsia and polyuria (100%). At diagnosis, 90% of the patients received radiotherapy, and 55% received chemotherapy combined with radiotherapy. There was a relapse in 4 patients (20%), and 3 of them died. Overall survival was 80%; 85.7% for pure germinomas and 60% for non-seminomatous germ cell tumours.
CONCLUSIONS
The most common histological subtype was pure germinoma. Germ cell tumours include heterogeneous disease entities that have a variable prognosis. Thus, an accurate diagnosis is vital for patient counselling and treatment planning.
Topics: Adolescent; Brain Neoplasms; Child; Child, Preschool; Female; Humans; Male; Neoplasms, Germ Cell and Embryonal; Retrospective Studies; Time Factors
PubMed: 27068071
DOI: 10.1016/j.anpedi.2016.03.005