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Caspian Journal of Internal Medicine 2021Germinoma is a rare lesion found commonly in the pineal and suprasellar regions of the brain. Clinical presentation mainly involves the location and size of the tumor...
BACKGROUND
Germinoma is a rare lesion found commonly in the pineal and suprasellar regions of the brain. Clinical presentation mainly involves the location and size of the tumor and the patient age. Endocrine abnormalities are the most common symptom.
CASE PRESENTATION
The patient was a 26-year-old Iranian female who suffered from germinoma for a long time and was referred to Loghman Hakim Hospital for amenorrhea, polyuria, and polydipsia. Despite diagnostic challenges, she was finally diagnosed with suprasellar germinoma after endoscopic transsphenoidal surgery, followed by radiotherapy and medical interventions to complement the surgery.
CONCLUSION
It is important to be able to diagnose the patient's problem at an early stage based on their history, hormonal profile, laboratory results and radiological view.
PubMed: 34760091
DOI: 10.22088/cjim.12.0.397 -
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 -
Neuro-oncology Dec 2019We integrated clinical, histopathological, and molecular data of central nervous system germ cell tumors to provide insights into their management.
BACKGROUND
We integrated clinical, histopathological, and molecular data of central nervous system germ cell tumors to provide insights into their management.
METHODS
Data from the Intracranial Germ Cell Tumor Genome Analysis (iGCT) Consortium were reviewed. A total of 190 cases were classified as primary germ cell tumors (GCTs) based on central pathological reviews.
RESULTS
All but one of the cases that were bifocal (neurohypophysis and pineal glands) and cases with multiple lesions including neurohypophysis or pineal gland were germinomas (34 of 35). Age was significantly higher in patients with germinoma than other histologies. Comparison between tumor marker and histopathological diagnoses showed that 18.2% of histopathologically diagnosed germinomas were marker positive and 6.1% of non-germinomatous GCTs were marker negative, suggesting a limitation in the utility of markers or histopathology alone using small specimens for diagnosis. Comparison between local and central histopathological diagnoses revealed a discordance of 12.7%. Discordance was significantly less frequent in biopsy cases, implying difficulty in detecting all histopathological components of heterogeneous GCTs. Germinomas at the typical sites (neurohypophysis or pineal gland) showed a better progression-free survival than those at atypical sites (P = 0.03). A molecular clinical association study revealed frequent mitogen-activated protein kinase (MAPK) pathway mutations in males (51.4% vs 14.3%, P = 0.007), and phosphatidylinositol-3 kinase/mammalian target of rapamycin (PI3K/mTOR) pathway mutations in basal ganglia cases (P = 0.004). Basal ganglia cases also had frequent chromosomal losses. Some chromosomal aberrations (2q, 8q gain, 5q, 9p/q, 13q, 15q loss) showed potential prognostic significance.
CONCLUSIONS
The in-depth findings of this study regarding clinical and molecular heterogeneity will increase our understanding of the pathogenesis of this enigmatic tumor.
Topics: Adolescent; Adult; Biomarkers, Tumor; Central Nervous System Neoplasms; Child; Combined Modality Therapy; Data Analysis; Female; Follow-Up Studies; Humans; Male; Middle Aged; Neoplasms, Germ Cell and Embryonal; Prognosis; Retrospective Studies; Survival Rate; Young Adult
PubMed: 31420671
DOI: 10.1093/neuonc/noz139 -
Neuro-oncology Aug 2022This multinational study was conducted to report clinical presentations and treatment strategies in patients with intracranial germinomas across selected Asian centers,...
BACKGROUND
This multinational study was conducted to report clinical presentations and treatment strategies in patients with intracranial germinomas across selected Asian centers, including failure patterns, risk factors, and outcomes.
METHODS
A retrospective data collection and analysis of these patients, treated between 1995 and 2015 from eight healthcare institutions across four countries was undertaken.
RESULTS
From the results, 418 patients were analyzed, with a median follow-up of 8.9 years; 79.9% of the patients were M0, and 87.6% had β-human chorionic gonadotropin values <50 mIU/mL. The 5/10-year overall survival (OS) and recurrence-free survival (RFS) rates were 97.2%/96.2% and 89.9%/86.9%, respectively. RFS was predicted by the radiotherapy (RT) field, with focal RT having the worst outcome, whereas chemotherapy usage had no impact on survival. Among patients who received chemotherapy, response to chemotherapy did not predict survival outcomes. In M0 patients, primary basal ganglia tumors predicted a worse RFS. In patients with bifocal tumors, an extended field RT was associated with better outcomes. In multivariable analysis, only RT fields were associated with RFS. In relapsed patients, salvage rates were high at 85.7%. Additionally, patients who received salvage RT had a better outcome (91.6% vs. 66.7%).
CONCLUSIONS
Survival outcomes of patients with germinoma were excellent. Thus, the focus of treatment for intracranial germinoma should be on survivorship. Further studies are warranted to find the optimal intensity and volume of radiation, including the role of chemotherapy in the survival of patients with intracranial germinomas, considering age, primary tumor location, and extent of disease.
Topics: Brain Neoplasms; Germinoma; Humans; Pineal Gland; Retrospective Studies; Salvage Therapy
PubMed: 34935949
DOI: 10.1093/neuonc/noab295 -
Surgical Neurology International 2022Pineal tumors are uncommon tumors that affect <1% of adults, with 50% of them being germinomas. A combination of endoscopic third ventriculostomy (ETV) and tumor biopsy...
BACKGROUND
Pineal tumors are uncommon tumors that affect <1% of adults, with 50% of them being germinomas. A combination of endoscopic third ventriculostomy (ETV) and tumor biopsy is usually used. Cerebral vasospasm in association with aneurysmal subarachnoid hemorrhage (aSAH) has been extensively studied. However, at least according to the research, this is not the case in intraventricular hemorrhage (IVH) cases. We present a case with two distinct findings: (1) an unexpected large IVH following the removal of an external ventricular drain (EVD) in a patient who had undergone ETV and tumor biopsy, resulting in severe clinical vasospasm and (2) incidental pineal region germinoma regression on follow-up magnetic resonance imaging (MRI) without any prior adjuvant chemoradiation to explain such regression.
CASE DESCRIPTION
The authors describe an 18-year-old male patient who had a routine, uneventful combined ETV and tumor biopsy, as well as the placement of an EVD. Histopathological examination revealed germinoma. His postoperative course was complicated by IVH after EVD removal, which resulted in clinical vasospasm. Without any prior adjuvant chemoradiation, follow-up MRI of the b rain revealed a significant reduction in the size of the germinoma as well as reconstitution of the patency of the previously obstructed aqueduct of Sylvius.
CONCLUSION
The take-home message from this case is that in the case of postoperative clinical deterioration in a patient with concurrent IVH and ETV, a high index of suspicion for vasospasm is required, as this may allow a significant amount of blood to pass down to the basal cisterns. Early detection and management of clinical vasospasm are critical for a better neurological outcome. Furthermore, unexpected tumor size changes can occur due to a variety of factors, so recent preoperative MRI of the brain should be obtained in the lead-up to surgery, and postoperative computed tomography should be used sparingly to avoid radiation-related tumor changes.
PubMed: 35127229
DOI: 10.25259/SNI_944_2021 -
Journal of Clinical Imaging Science 2021We are reporting a case of 16-year-old boy presented with severe headache and blurred vision. MRI showed a pineal region mass that was initially thought to be a...
We are reporting a case of 16-year-old boy presented with severe headache and blurred vision. MRI showed a pineal region mass that was initially thought to be a germinoma. Endoscopic biopsy revealed tuberculoma which is an exceedingly rare and unusual location for CNS tuberculoma. The patient was treated successfully with anti-tuberculous therapy.
PubMed: 34221644
DOI: 10.25259/JCIS_84_2021 -
Cancer Research and Treatment Oct 2020Whether craniospinal irradiation (CSI) could be replaced by limited-field radiation in non-metastatic bifocal germinoma remains controversial. We addressed the issue... (Comparative Study)
Comparative Study
PURPOSE
Whether craniospinal irradiation (CSI) could be replaced by limited-field radiation in non-metastatic bifocal germinoma remains controversial. We addressed the issue based on the data from our series and the literature.
MATERIALS AND METHODS
Data from 49 patients diagnosed with non-metastatic bifocal germinoma at our hospital during the last 10 years were collected. The Pediatric Quality of Life Inventory 4.0 was used to evaluate health-related quality of life (HRQOL). Additionally, 81 patients identified from the literature were also analyzed independently.
RESULTS
In our cohort, 34 patients had tumors in the sellar/suprasellar (S/SS) plus pineal gland (PG) regions and 15 in the S/SS plus basal ganglia/thalamus (BG/T) regions. The median follow-up period was 52 months (range, 10 to 134 months). Our survival analysis showed that patients treated with CSI (n=12) or whole-brain radiotherapy (WBRT; n=34) had comparable disease-free survival (DFS; p=0.540), but better DFS than those treated with focal radiotherapy (FR; n=3, p=0.016). All 81 patients from the literature had tumors in the S/SS+PG regions. Relapses were documented in 4/45 patients treated with FR, 2/17 treated with whole-ventricle irradiation, 0/4 treated with WBRT, and 1/15 treated with CSI. Survival analysis did not reveal DFS differences between the types of radiation field (p=0.785). HRQOL analysis (n=44) in our cohort found that, compared with S/SS+PG germinoma, patients with BG/T involvement had significantly lower scores in social and school domains. However, HRQOL difference between patients treated with CSI and those not treated with CSI was not significant.
CONCLUSION
In patients with non-metastatic bifocal germinoma, it is rational that CSI could be replaced by limited-field radiation. HRQOL in patients with BG/T involvement was poorer.
Topics: Adolescent; Adult; Antineoplastic Combined Chemotherapy Protocols; Brain Neoplasms; Chemoradiotherapy; Child; Child, Preschool; Cranial Irradiation; Craniospinal Irradiation; Disease-Free Survival; Female; Follow-Up Studies; Germinoma; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neoplasm Recurrence, Local; Pineal Gland; Quality of Life; Radiotherapy Dosage; Young Adult
PubMed: 32646203
DOI: 10.4143/crt.2020.437 -
Cureus Aug 2022Tumors involving the pineal gland include germinomas, non-germinomatous, and parenchymal tumors. Sometimes these tumors can be differentiated into rhabdomyosarcoma,...
Tumors involving the pineal gland include germinomas, non-germinomatous, and parenchymal tumors. Sometimes these tumors can be differentiated into rhabdomyosarcoma, which is an aggressive and rapidly recurring sarcoma but is a rare event. We present the case of a 23-year-old male, with an eight-year-long history of a non-treated brain tumor compatible with a teratoma. Chemotherapy and radiotherapy were offered, and two years later, malignant transformation to astrocytoma, rhabdomyosarcoma, neural cell carcinoma, ganglioglioma, and low-grade chondrosarcoma was noted. Immunohistochemistry was valuable in differentiating these entities that confirmed the diagnosis. Malignant transformations may be secondary to the normal transformation of multipotent embryonic cells into more developed tissues after radiotherapy of teratoma and malignant ectomesenchymoma transformation.
PubMed: 36081970
DOI: 10.7759/cureus.27711 -
Neuro-oncology May 2022Central nervous system (CNS) germ cell tumors (GCTs) are neoplasms predominantly arising in pediatric and young adult populations. While germinomas generally respond to...
BACKGROUND
Central nervous system (CNS) germ cell tumors (GCTs) are neoplasms predominantly arising in pediatric and young adult populations. While germinomas generally respond to chemotherapy and radiation, non-germinomatous GCTs (NGGCTs) require more intensive treatment. This study aimed to determine whether 12p gain could predict the prognosis of CNS GCTs.
METHODS
Eighty-two CNS GCTs were included in this study. The 12p gain was defined by an additional 12p in the background of potential polyploidy or polysomy. Cases were analyzed using an Illumina methylation 450K array for copy number investigations and validated by fluorescence in situ hybridization (FISH).
RESULTS
A 12p gain was found in 25-out-of-82 cases (30%) and was more frequent in NGGCTs (12% of germinoma cases and 50% of NGGCT cases), particularly in cases with malignant components, such as immature teratoma, yolk sac tumor, choriocarcinoma, and embryonal carcinoma. 12p gain and KIT mutation were mutually exclusive events. The presence of 12p gain correlated with shorter progression-free (PFS) and overall survival (OS) (10-year OS: 59% vs. 94%, with and without 12p gain, respectively, P = 0.0002), even with histology and tumor markers incorporated in the multivariate analysis. Among NGGCTs, 12p gain still had prognostic significance for PFS and OS (10-year OS: 47% vs. 90%, respectively, P = 0.02). The 12p copy number status was shared among histological components in mixed GCTs.
CONCLUSIONS
12p gain may predict the presence of malignant components of NGGCTs, and poor prognosis of the patients. It may be associated with early tumorigenesis of CNS GCT.
Topics: Brain Neoplasms; Central Nervous System Neoplasms; Child; Germinoma; Humans; In Situ Hybridization, Fluorescence; Male; Neoplasms, Germ Cell and Embryonal; Pineal Gland; Testicular Neoplasms
PubMed: 34698864
DOI: 10.1093/neuonc/noab246 -
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