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Neuro-oncology Jun 2022
Topics: Brain Neoplasms; Child; Germinoma; Humans; Pineal Gland
PubMed: 35171291
DOI: 10.1093/neuonc/noac047 -
So-called bifocal tumors with diabetes insipidus and negative tumor markers: are they all germinoma?Neuro-oncology Feb 2021The Delphi consensus statements on the management of germ cell tumors (GCTs) failed to reach agreements on the statement that the cases with (i) pineal and...
BACKGROUND
The Delphi consensus statements on the management of germ cell tumors (GCTs) failed to reach agreements on the statement that the cases with (i) pineal and neurohypophyseal bifocal lesion, (ii) with diabetes insipidus, and (iii) with negative tumor markers can be diagnosed as germinoma without histological verification. To answer this, multicenter retrospective analysis was performed.
METHODS
A questionnaire on clinical findings, histological diagnosis, and details of surgical procedures was sent to 86 neurosurgical and 35 pediatrics departments in Japan.
RESULTS
Fifty-one institutes reported 132 cases that fulfilled the 3 criteria. Tissue sampling was performed in 91 cases from pineal (n = 44), neurohypophyseal (n = 32), both (n = 6), and distant (n = 9) lesions. Histological diagnosis was established in 89 cases: pure germinoma or germinoma with syncytiotrophoblastic giant cells in 82 (92.1%) cases, germinoma and mature teratoma in 2 cases, and granulomatous inflammation in 2 cases. Histological diagnosis was not established in 2 cases. Although no tumors other than GCTs were identified, 3 (3.4%) patients had non-germinomatous GCTs (NGGCTs). None of the patients developed permanent complications after endoscopic or stereotactic biopsy. Thirty-nine patients underwent simultaneous procedure for acute hydrocephalus without permanent complications, and hydrocephalus was controlled in 94.9% of them.
CONCLUSION
All patients who fulfilled the 3 criteria had GCTs or granulomatous inflammation, but not other types of tumors. However, no fewer than 3.4% of the patients had NGGCTs. Considering the safety and the effects of simultaneous procedures for acute hydrocephalus, biopsy was recommended in such patients.
Topics: Biomarkers, Tumor; Brain Neoplasms; Child; Diabetes Insipidus; Diabetes Mellitus; Germinoma; Humans; Male; Pineal Gland; Retrospective Studies
PubMed: 32818237
DOI: 10.1093/neuonc/noaa199 -
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 -
Neuroendocrinology 2020Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can... (Review)
Review
Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. She had central diabetes insipidus (CDI) and panhypopituitarism. Imaging revealed a sellar-suprasellar mass with infundibular stalk thickening. Transphenoidal biopsy revealed epithelioid granulomas with immunostaining negative for germinomatous cells. Other causes of hypophysitis were ruled out. Accordingly, she was diagnosed as primary granulomatous hypophysitis and treated with high-dose corticosteroids. Three years later she again presented with headache, vomiting and diminution of vision. Imaging showed a heterogeneous, solid-cystic peripheral rim-enhancing lesion at the same location with involvement of hypothalamus, ependyma and pineal gland. Cerebrospinal fluid beta-human chorionic gonadotropin was markedly elevated, confirming the diagnosis of an intracranial germ cell tumor. She was started on chemotherapy; however, she succumbed to febrile neutropenia. We performed a literature search and found 18 anecdotal cases of secondary hypophysitis associated with intracranial germinomas. There was a slight male preponderance (male:female 5:4). Two-thirds of the cases were below 18 years of age. Polyuria was the most common presenting manifestation (83%). CDI and panhypopituitarism were seen in 89 and 78% cases, respectively. Imaging evidence of pituitary stalk thickening was seen in 12 cases (67%), while pituitary enlargement and/or sellar mass were reported in 11 cases (61%). Pineal involvement was extremely rare, being reported in only 1 case, implying the predilection of suprasellar (rather than pineal) germinomas in causing secondary hypophysitis. Histologically, 82% had lymphocytic hypophysitis, while 18% had granulomatous hypophysitis. Initially, the diagnosis of germinoma was missed in 60% of the cases who were wrongly treated with corticosteroids. To conclude, physicians should make it a dictum that all children and adolescents presenting with CDI and pituitary stalk thickening should be rigorously screened for an underlying intracranial germinoma before labeling them as primary hypophysitis.
Topics: Adolescent; Brain Neoplasms; Child; Female; Germinoma; Granuloma; Humans; Hypophysitis; Hypopituitarism; Male
PubMed: 31269501
DOI: 10.1159/000501886 -
Journal of Cancer Research and... 2020Intracranial germ cell tumors (ICGCTs) comprise approximately 0.4%-3% of all brain tumors. In this study, we aim to evaluate clinical characteristics, treatment and...
PURPOSE
Intracranial germ cell tumors (ICGCTs) comprise approximately 0.4%-3% of all brain tumors. In this study, we aim to evaluate clinical characteristics, treatment and outcomes of patients with ICGCT.
PATIENTS AND METHODS
All patients with ICGCT diagnosed in Hacettepe University's Pediatric Oncology Department between January 1980 and January 2016 were evaluated, retrospectively.
RESULTS
We identified 52 patients (male/female: 2.46) diagnosed with ICGT. Median age was 140 months. The median duration of symptoms was 3 months. Patients with endocrine symptoms were diagnosed later than others (P = 0.028). The primary site was pineal region in 20 patients, nonpineal region in 32 which included six bifocal involvements. Pineal location was more common in boys than girls (P = 0.02). Histopathological diagnosis was germinoma in 28 patients, nongerminomatous malignant germ cell tumors in 14 and immature teratoma in 4. The mean age for germinoma was higher than that of nongerminomatous tumors (P = 0.032). Patients treated with surgery and radiotherapy and chemotherapy. Median follow-up time was 52.5 months. Thirty-six patients were alive for 12-228 months. Relapsed/progressive disease was observed in 11 patients. Nongerminomatous tumors more frequently showed relapse/progression than germinoma (P = 0.06). Five-year overall and event-free survival rates for the whole group were 72.6% and 57.2%, respectively. Overall and event-free survival rates for germinoma were better than malignant nongerminomatous tumors.
CONCLUSION
Although the ratio of ICGCTs to central nervous system tumors in our series was similar to western countries, some clinical features such as tumor location were similar to cases from East Asian countries. Although similar protocols were used survival rates lower than developed western and eastern developed countries.
Topics: Adolescent; Antineoplastic Combined Chemotherapy Protocols; Brain; Brain Neoplasms; Chemoradiotherapy, Adjuvant; Child; Child, Preschool; Disease Progression; Disease-Free Survival; Female; Follow-Up Studies; Germinoma; Hospitals, Pediatric; Hospitals, University; Humans; Infant; Kaplan-Meier Estimate; Magnetic Resonance Imaging; Male; Neoplasm Recurrence, Local; Neurosurgical Procedures; Retrospective Studies; Survival Rate; Teratoma; Time Factors; Tomography, X-Ray Computed; Turkey
PubMed: 33342813
DOI: 10.4103/jcrt.JCRT_314_18 -
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 -
Radiology Case Reports Dec 2022Central nervous system germ cell tumors are rare lesions that are more frequently seen in the pediatric age group. Intracranial germinomas are a type of these germ cell...
Central nervous system germ cell tumors are rare lesions that are more frequently seen in the pediatric age group. Intracranial germinomas are a type of these germ cell tumors and commonly arise in the pineal region, suprasellar region, or less frequently at both areas (bifocal). Common features of this tumor depend on the location of the lesion(s) and include Parinaud's syndrome, obstructive hydrocephalus, diabetes insipidus, panhypopituitarism, strabismus, and visual acuity defects. We report a case of bifocal pineal and suprasellar germinoma with posterior fossa metastases in a 15-year-old male patient. The involvement of the third ventricular floor and nonthickened inferior pituitary stalk of the suprasellar lesion suggest that it is a metastasis of a primary pineal lesion rather than a dual-primary. This distinction, with the presence of posterior fossa metastases, favors the use of more aggressive treatment with combination radiation therapy and chemotherapy for a better outcome.
PubMed: 36189158
DOI: 10.1016/j.radcr.2022.08.102 -
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 -
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 -
Radiology Case Reports Jan 2023Germinoma is a rare CNS germ cell tumor preferentially affecting children and young adults. Intracranial germinomas arise typically in the neurohypophysis and pineal...
Germinoma is a rare CNS germ cell tumor preferentially affecting children and young adults. Intracranial germinomas arise typically in the neurohypophysis and pineal region and occasionally in the basal ganglia and thalamus. Germinomas in the basal ganglia and thalamus are characterized by the ipsilateral cerebral and brainstem hemiatrophy with slowly progressive neurological deficits, which is due to tumor infiltration into the thalamocortical and corticospinal tract and induction of anterograde and retrograde Wallerian degeneration. We report an 11-year-old boy with a mass located in the fornix incidentally discovered on the first work-up of his minor head injury. Imaging findings revealed the ipsilateral atrophy of the mammillary body and the fornix. Stereotactic brain biopsy was performed and the final diagnosis was germinoma. The ipsilateral atrophy of the mammillary body and the fornix implied the transsynaptic degeneration via the Papez circuit. We discuss the unique nature of germinomas and underlying pathological mechanisms.
PubMed: 36425391
DOI: 10.1016/j.radcr.2022.10.064