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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 -
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 -
World Journal of Orthopedics Sep 2021Osteochondromas are the most common benign bone tumor, accounting for 36% of benign bone tumors. Often found within the appendicular skeleton, osteochondromas of the...
BACKGROUND
Osteochondromas are the most common benign bone tumor, accounting for 36% of benign bone tumors. Often found within the appendicular skeleton, osteochondromas of the spine are rare, comprising 4% to 7% of primary benign spinal tumors.
CASE SUMMARY
We report a case of a solitary lumbar osteochondroma in an 18-year-old male with a history of a suprasellar pineal germinoma treated with combined chemotherapy and radiation. He underwent mass excision and partial laminectomy with the ultrasonic bone scalpel (Misonix, Farmingdale, NY, United States) at the L5 Level without the use of adjuvants. The patient returned to work and full activities without back pain at 3 mo postoperatively.
CONCLUSION
Osteochondromas are common tumors of the appendicular skeleton but rarely occur within the spine. This case discussion supplements current osteochondroma literature by describing an unusual presentation of this tumor.
PubMed: 34631455
DOI: 10.5312/wjo.v12.i9.720 -
Pediatric Blood & Cancer Jan 2022Patients with localized intracranial germinoma have excellent survival. Reducing treatment burden and long-term sequelae is a priority. Intensive inpatient chemotherapy...
BACKGROUND
Patients with localized intracranial germinoma have excellent survival. Reducing treatment burden and long-term sequelae is a priority. Intensive inpatient chemotherapy (e.g., carboPEI = carboplatin/etoposide/ifosfamide) has been effectively employed to reduce radiotherapy treatment volume/dose. Outpatient-based carboplatin monotherapy is associated with excellent outcomes in metastatic testicular seminoma (an identical pathology), and successful vinblastine monotherapy induction (with 77% tumor volume reduction after just two weekly vinblastine doses) has recently been reported in an intracranial germinoma patient.
METHODS
Adapted UK guidelines for germ cell tumor management were distributed during the COVID-19 pandemic, including nonstandard treatment options to reduce hospital visits and/or admissions. This included vinblastine monotherapy for intracranial germinoma (6 mg/m intravenously, or 4 mg/m for moderate count suppression, delivered weekly). We describe two such patients treated using this approach.
RESULTS
A 30-year-old male with a localized pineal tumor received 12-week vinblastine induction, with >60% volume reduction, prior to definitive radiotherapy. A 12-year-old female with a metastatic suprasellar tumor and progression at all sites of disease whilst awaiting proton radiotherapy received two vinblastine doses with good early response, including 36% primary tumor volume reduction. The patients tolerated vinblastine well.
CONCLUSION
Patients with intracranial germinoma have excellent outcomes, and reduction of late effects remains a priority. The description of vinblastine monotherapy in these intracranial germinoma patients warrants further exploration.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Brain Neoplasms; COVID-19; Carboplatin; Child; Etoposide; Female; Germinoma; Humans; Male; Neoplasms, Germ Cell and Embryonal; Pandemics; Vinblastine
PubMed: 34520101
DOI: 10.1002/pbc.29359 -
Frontiers in Neurology 2021With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding in the pediatric population. In the absence of...
With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding in the pediatric population. In the absence of evidence-based guidelines, optimal diagnostic and therapeutic approaches have not been established, and there is a risk of under- or overtreatment of these patients. The aim of our study was to evaluate the clinical presentation and radiological features of PCL in a cohort of pediatric patients and to identify clinical parameters more commonly associated with neoplasms in the pineal region. In addition, the prevalence of PCL in the pediatric population of Slovenia was estimated. In this observational, cohort study, children treated at University Children's Hospital, Ljubljana, Slovenia in the period 1997-2016 were included if PCL was found on brain imaging. We analyzed indications for referral to a neurologist, clinical signs and symptoms, radiological features, treatment and outcome. The cohort consisted of 143 children with PCL. Pineocytoma was suspected in 31 children (21.7%). Six children underwent surgery - pineocytoma was confirmed in two cases and germinoma in one (2/3 of these children had signs of increased intracranial pressure (ICP), while PCL was benign in the remaining 4 cases. Only 2 PCL enlarged during the study period, both <2mm, none of these children developed neoplasm. Two children had PCL >20mm in diameter; both showed signs of increased ICP, one patient was found to have a germinoma of the pineal region, while the other had no neoplasm. Most PCL do not change their features during radiological follow-up and even atypical PCL are very rarely associated with a malignant neoplasm of the pineal region. A PCL larger than 20 mm and signs of increased ICP were identified as potential markers for selecting patients at risk.
PubMed: 34512533
DOI: 10.3389/fneur.2021.722696 -
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 -
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 -
Rare Tumors 2021The diagnosis and management of mixed intracranial germ cell tumors may be complicated by the diversity present within this tumor category. Mixed germ cell tumors...
The diagnosis and management of mixed intracranial germ cell tumors may be complicated by the diversity present within this tumor category. Mixed germ cell tumors demonstrate variable natural histories which may be altered by the inclusion of even the most minute immature histological components. We report the case of an 18-year-old male who presented with a 3-month history of progressive headache and nausea leading to lethargy. Imaging revealed a giant pineal region mass extending superiorly from the roof of the fourth ventricle into the lateral ventricle, with resultant obstructive hydrocephalus. No spinal lesions were noted. Following gross total resection, the patient experienced marked improvement. Pathologic analysis identified an uncommon tumor composition: mature teratoma (96%), immature teratoma (2%), and germinoma (2%). Guided by the immature component, chemotherapy and radiation were added post-operatively to provide this patient with the greatest chance of long-term survival. Intracranial pathology, including germ cell tumors, should be included in the differential for any young patient presenting with new and progressive headache and nausea. This case emphasizes the benefit of a multimodal approach to mixed germ cell tumors of the pineal region and the importance of careful pathologic review of all submitted material.
PubMed: 34221291
DOI: 10.1177/20363613211026501 -
Chinese Neurosurgical Journal Jun 2021Central nervous system germ cell tumors (CNS GCTs) represent a class of rare tumors that exhibit region-specific prevalence in some Asian areas (15.3%), higher than that...
BACKGROUND
Central nervous system germ cell tumors (CNS GCTs) represent a class of rare tumors that exhibit region-specific prevalence in some Asian areas (15.3%), higher than that in North America (3.6%), and age-specific prevalence in children and adolescents. According to the 2016 World Health Organization (WHO) classification, CNS GCTs can be categorized into germinomas and non-germinomatous GCTs (NGGCTs). Owing to the compression of the interventricular foramen by enlarged GCTs in the pineal gland, the resultant obstructive hydrocephalus may result in high intracranial pressure (HIP) at an alarming pace, which urgently requires a ventriculoperitoneal shunt for the relief of severe HIP. Although CNS GCT cells tend to migrate through the cerebrospinal fluid (CSF) starting from the subependymal lining, metastasis along the ventriculoperitoneal shunt tube is extremely rare.
CASE PRESENTATION
In this study, we reported two cases of iGCTs with intraperitoneal metastasis. Both patients underwent ventriculoperitoneal shunt placement to alleviate HIP, and both received standard radiotherapy and chemotherapy, but they still developed abdominal metastasis, and all the abdominal masses were pathologically confirmed to be iGCTs.
CONCLUSIONS
We performed a literature study and found that from 1979 to 2020, a total of 18 cases of iGCTs were metastasized outside the nervous system. We also found a shift of the median of 13.5 months and that the most common primary site was the pineal region (83.3%); moreover, nearly half of the patients (44%) died within 1 year of metastasis, indicating a poor prognosis after celiac metastasis.
PubMed: 34074342
DOI: 10.1186/s41016-021-00246-0 -
Journal of Neurosurgery. Case Lessons Apr 2021Germinoma is the most common type of germ cell tumor that develops intracranially. Germinomas usually grow in the midline structures, such as the pineal and suprasellar...
BACKGROUND
Germinoma is the most common type of germ cell tumor that develops intracranially. Germinomas usually grow in the midline structures, such as the pineal and suprasellar regions, and are rarely found in other locations. To the best of the authors' knowledge, no previous research has reported on growth of this tumor in the cranial vault.
OBSERVATIONS
The authors reported an unusual case of primary cranial vault germinoma in a young adult. Macroscopically, the tumor had a solid-soft consistency and grayish color with brownish spots on the surface. The histological examination revealed anaplastic cells with round, hyperchromatic, pleomorphic nuclei; prominent nucleoli; and abundant, clear cytoplasm, arranged in lobules and sheets that were infiltrated by lymphocytes and separated by fibrous connective tissue. These findings were consistent with the histopathological characteristics of germinoma.
LESSONS
Primary cranial vault germinoma is a unique tumor because no previous research has reported any growth in that location. It should be considered one of the differential diagnoses of lesions located over the cranial vault. Histopathological examination is still the primary modality for diagnosing these tumors and excluding other differential diagnoses.
PubMed: 35855389
DOI: 10.3171/CASE2082