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Frontiers in Oncology 2024Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs...
BACKGROUND
Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas.
MATERIAL AND METHODS
A retrospective chart review was performed on all patients treated at the Children's Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available. Plasma samples were profiled for miRNA expression, and DESeq2 was used to compare between pure germinoma and other tumor types. Differentially expressed miRNAs were identified. The area under the curve of the receive;r operating characteristic curve was constructed to evaluate diagnostic performance.
RESULTS
Samples from 39 pediatric patients were available consisting of 12 pure germinomas and 27 pineal region tumors of other pathologies, including pineal origin tumors [ = 17; pineoblastoma ( = 13) and pineal parenchymal tumors of intermediate differentiation ( = 4)] and others [ = 10; low-grade glioma ( = 6) and atypical teratoid rhabdoid tumor ( = 4)]. Using an adjusted -value <0.05, three miRNAs showed differential expression (miR-143-3p, miR-320c, miR-320d; adjusted = 0.0058, = 0.0478, and = 0.0366, respectively) and good discriminatory power between the two groups (AUC 90.7%, < 0.001) with a sensitivity of 25% and a specificity of 100%.
CONCLUSION
Our results suggest that a three-plasma miRNA signature has the potential to non-invasively identify pineal body pure germinomas which may allow selected patients to avoid the potential surgical complications.
PubMed: 38665953
DOI: 10.3389/fonc.2024.1219796 -
The American Journal of Case Reports Nov 2022BACKGROUND Pineal gland tumors are rare central nervous system tumors, and while neck pain and headaches may be common among those who have had these tumors removed,...
BACKGROUND Pineal gland tumors are rare central nervous system tumors, and while neck pain and headaches may be common among those who have had these tumors removed, there is little research regarding management of these symptoms. CASE REPORT A 45-year-old man with a history of pineal germinoma treated with pinealectomy, chemotherapy, radiation therapy, and ventriculoperitoneal shunt placement at age 21 presented with chronic neck pain and headaches, which initially improved following his surgery and concurrent therapies, yet progressively worsened over the following years. He required thyroid and testosterone medication because of radiation-induced hypopituitarism, yet was employed, and until recently, active with playing tennis. He had previously seen his primary care provider, orthopedist, and neurologist, and had been cleared of severe pathology via brain magnetic resonance imaging and was referred to the chiropractor. On examination, the patient had severely limited passive cervical spine range of motion, yet hat no neurologic deficits, and radiographs showed mild cervical spondylosis and cervicothoracic scoliosis. His history and presentation were suggestive of radiation-induced fibrosis. The patient's neck pain, headaches, and quality of life improved with multimodal treatments including spinal and soft-tissue manipulation, stretches, and yoga. CONCLUSIONS This case illustrates long-term sequelae of a pineal gland tumor and its treatment, including neck pain and headache, and improvement with multimodal chiropractic therapies. Despite the success in this case, these results are not broadly generalizable. Further research is needed to understand the natural history of symptoms and effectiveness of multimodal therapies among patients who have had pineal tumor surgery.
Topics: Male; Humans; Young Adult; Adult; Middle Aged; Neck Pain; Pinealectomy; Chiropractic; Quality of Life; Headache; Combined Modality Therapy
PubMed: 36401511
DOI: 10.12659/AJCR.937906 -
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 -
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 -
Child's Nervous System : ChNS :... Sep 2023Resecting pineal region tumors in children is often challenging. Several approaches have been proposed and practiced. A personal series of pediatric pineal region tumors...
PURPOSE
Resecting pineal region tumors in children is often challenging. Several approaches have been proposed and practiced. A personal series of pediatric pineal region tumors resected through craniotomy with posterior interhemispheric occipital transtentorial (OT) approach are reviewed. We present the surgical techniques, pitfalls, and their results.
MATERIAL AND METHODS
Eighty patients ranging in age from 3 months to 21 years old, and treated over 3 decades were reviewed. Hydrocephalus caused the main presenting symptoms and was noted in 74 patients. It was treated prior to the craniotomy for tumor resection with endoscopic third ventriculostomy (ETV) in 33, external ventricular drainage in 26, and precraniotomy shunt in 15. Nine patients had ETV together with endoscopic biopsy. All patients had a parieto-occipital craniotomy in a prone position. Through a tentorial section, a gross total resection of the tumor was attempted except for germinomas.
RESULTS
The tumor pathology showed 32 germ cell tumors (GCT), 22 benign astrocytomas, 13 pineal parenchymal tumors, 5 ATRTs, 3 papillary tumors, and 5 others. Of GCTs, 18 were teratomas. The extent of resection consisted of 55 gross total resections, 13 subtotal resections, 10 partial, and 2 biopsies with one postoperative death. Hemiparesis in 2, cerebellar ataxia in another 2, and hemiballismus in 1 were transient and improved over time. One had permanent hemisensory loss and another patient had bilateral oculomotor palsy. Postoperative homonymous hemianopia occurred in 2 patients but subsided over a short period of time. Parinaud's sign was noted in 24 patients, of which 16 were transient.
CONCLUSION
The posterior interhemispheric OT approach provides a safe route and comfortable access to the pineal region in children. A great majority of postoperative neurological complications are the results of direct manipulations of the midbrain at tumor resection. Identification and preservation of the tumor-brain interface are of paramount importance. GCTs other than teratomas are treated with neoadjuvant chemotherapy and may eliminate the need for craniotomy. Exophytic midbrain JPAs are amenable to resection.
Topics: Child; Humans; Pinealoma; Retrospective Studies; Brain Neoplasms; Pineal Gland; Postoperative Complications; Teratoma
PubMed: 35821434
DOI: 10.1007/s00381-022-05595-4 -
Computers in Biology and Medicine Jan 2023Pineal region tumors (PRTs) are highly histologically heterogeneous. Germinoma is the most common PRT and is treatable with radiotherapy and chemotherapy. A non-invasive...
BACKGROUND
Pineal region tumors (PRTs) are highly histologically heterogeneous. Germinoma is the most common PRT and is treatable with radiotherapy and chemotherapy. A non-invasive system that helps identify germinoma in the pineal region could reduce lab exams and traumatic therapies.
METHODS
In this retrospective study, 122 patients with histologically confirmed PRTs and pre-operative multi-modal MR images were included. Radiomics features were extracted from different ROIs and image sequences separately. A computational framework that combines a few classification and feature selection algorithms were used to predict histology with radiomics features and demographics. We systemically benchmarked performance of models with feature matrices from all possible combinations of ROIs and image sequences. The Area under the ROC Curve (AUC) was then used to evaluate model performance.
RESULTS
Models with demographics and radiomics features outperform radiomics-only or demographics-only models. The best demographical-radiomics model reached the highest AUC of 0.88 (CI95%: 0.81-0.96). Through the comprehensive evaluation of possible sequence combinations in the differential diagnosis of pineal tumor, T1 and T2 emerged as the most informative sequences for the task. There is imbalanced usage of feature classes as we analyze their proportion in all models.
CONCLUSIONS
The demographical-radiomics model can accurately and efficiently identify germinomas in the pineal region. The preference for MRI sequences, radiomics feature classes, features selection and classification algorithms provide a valuable reference for future attempts at developing classifiers on medical images.
Topics: Humans; Retrospective Studies; ROC Curve; Magnetic Resonance Imaging; Machine Learning; Germinoma
PubMed: 36470145
DOI: 10.1016/j.compbiomed.2022.106366 -
Journal of Clinical Neuroscience :... Apr 2017Pineal germ cell tumors (GCTs) are primarily seen in pediatric and Asian populations. These tumors are divided into germinomatous and non-germinomatous GCTs (NGGCTs).... (Review)
Review
Pineal germ cell tumors (GCTs) are primarily seen in pediatric and Asian populations. These tumors are divided into germinomatous and non-germinomatous GCTs (NGGCTs). GCTs are thought to arise by misplacement of totipotent stem cells en route to gonads during embryogenesis. Intracranial GCTs display an affinity to develop along the pineal-suprasellar axis and have variable manifestations dependent upon the location of the tumor. Management and outcomes are driven by histopathologies. In this study, we highlight two cases of pineal GCTs and present a review of the literature with an emphasis on histopathologies and biomarkers.
Topics: Adult; Biomarkers, Tumor; Brain Neoplasms; Germinoma; Humans; Male; Pineal Gland; Young Adult
PubMed: 28189312
DOI: 10.1016/j.jocn.2016.12.024 -
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 -
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