Pineal Region Research Articles

RADT-27. REPORT OF 9 CASES OF EMBRYONAL TUMORS OF THE CENTRAL NERVOUS SYSTEM WITH MULTILAYERED ROSETTES (ETMR)

Abstract OBJECTIVE Embryonal Tumors of the Central Nervous System with Multilayered Rosettes (ETMR) are rare, and there’s no standard treatment protocol. This article reports on the current treatment status and prognosis of ETMR in our hospital. METHODS We retrospectively collected patients with ETMR who received treatment in the Oncology Department of Guangdong sanjiu Brain Hospital from January 2017 to January 2021, analyzed their clinical data. RESULTS Among 31 cases of central nervous system embryonic tumors (excluding medulloblastoma and ATRT), 9 (29.03%) were ETMR. The median age at diagnosis was 3 years old (1-15), and the male to female ratio was 4:5. Among them, 5 cases were accompanied by C19MC gene variation. Tumor location:6 was in supratentorial, 1 in the pineal region, 1 in the pons, 1 in the cerebellopontine. Eight patients underwent surgical resection at the first diagnosis, with 6 cases of total resection, 1 case of partial resection, and 1 case of biopsy. One case was misdiagnosed as a germinoma in the pineal region at the initial. After recurrence, surgical resection was performed to confirm the pathology as ETMR. One case was misdiagnosed as glioblastoma during the first surgery. The initial treatment for 4 patients after surgery was radiotherapy combined with concurrent chemotherapy. Recurrence patterns: 2 cases were intracranial dissemination, 2 cases were local recurrence, 1 was spinal cord dissemination. One patient did not receive treatment after surgery and tumor recurrence 3 months later. Survival analysis: The median survival time was 20 months. The 1-year progression-free survival rate (PFS) and overall survival rate (OS) were 22% and 61%, and the 2-year overall survival rate (OS) was 31%. CONCLUSION ETMR has a low incidence and poor prognosis. It is easy to misdiagnose and NGS is necessary to assist diagnosis when needed. More effective treatment methods need to be explored.

EXTH-81. A RARE CASE OF RELENTLESSLY PROGRESSIVE METASTATIC PINEOCYTOMA MANAGED WITH SEQUENTIAL MULTIMODAL THERAPY

Abstract BACKGROUND Pineocytoma is a rare pineal parenchymal WHO grade 1 tumor, typically well-managed with surgical resection alone. With gross total resection (GTR), 91% 1-year and 84% 5-year survival rates have been reported. Recurrent pineocytoma is rare and optimal management in that setting is unknown, in part owing to the rarity of the condition. METHODS We report an atypical course of pineocytoma in a 58-year-old male involving metastatic disease. RESULTS A pineal mass was identified upon MRI of the brain obtained for vision changes. Patient underwent GTR, pathology was consistent with pineocytoma, WHO grade 1. Ki-67 labeling index was low at 1-2%. Despite low-grade pathology, two years later, surveillance imaging demonstrated recurrence in the pineal region and a second lesion in the right thalamus. The patient underwent gamma knife surgery (GKRS) to both lesions. Three years later, he developed three new lesions in the right cerebellum and again underwent GKRS. Subsequent surveillance imaging identified new lesions in the right cerebellum and along ventricular walls, treated with further GKRS. Nine years after initial diagnosis, focal nodular leptomeningeal metastases were discovered, along with progression at the primary tumor site. Patient was treated with GKRS to the nodular deposits followed by pembrolizumab. Further disease progression as noted despite immunotherapy. Patient was treated with 6 cycles of temozolomide chemotherapy and at further progression 3 cycles of lomustine. Upon additional progression, further radiation therapy was administered with bevacizumab to reduce risk of radiation necrosis. Patient remains on surveillance 13 years after initial diagnosis with visual changes and mild headache representing only clinical issues. CONCLUSIONS Although exceedingly rare, pineocytoma is capable of metastasizing to brain parenchyma and the leptomeninges, as demonstrated in our patient. However, our case demonstrates prolonged survival is possible even in the setting of relentlessly progressive metastatic disease with utilization of multimodality treatment.

NCMP-04. IMPLANTATION METASTASIS FOLLOWING BIOPSY OF THALAMIC GERMINOMA – A CASE REPORT AND REVIEW OF LITERATURE

Abstract Germ cell tumors commonly develop in the pineal and suprasellar regions, with the most common germ cell tumor being germinomas. In this report, a 22-year-old male presented with progressive right-sided weakness and his imaging was consistent a thalamic high grade glioma. A stereotactic biopsy was performed, revealing a germinoma, but radiation therapy was not done and patient was lost to follow up. He was readmitted due to ulcerative tumor growth at the previous skin incision, and imaging revealed tumor progression with implantation metastasis along the tract of the previous biopsy. The scalp tumor was excised and histopathologic studies confirmed that it was proliferation of the previous germinoma. He was discharged well but was unfortunately unable to follow up at the clinic. Thalamic germinomas are difficult to diagnose and treat because of their rarity. Here we underscore the importance of careful patient selection, precise biopsy techniques, thorough postoperative management and close radiographic surveillance to minimize the risk of implantation metastasis and promptly treat it if it occurs.

Intracranial Off-Midline Mature Teratoma and Pneumosinus Dilatans: A Unique Clinical Report

AbstractTeratomas typically arise as midline lesions in the suprasellar and pineal regions. Pneumosinus dilatans is a rare condition characterized by the expansion of one or more of the paranasal sinuses and thinning of their bony walls with a normal covering mucosa. It usually involves the sphenoid and posterior ethmoid sinuses and has been associated with meningiomas and arachnoid cysts. Off-midline mature teratomas are uncommon, and no reports have described an association with pneumosinus dilatans. We present a rare association between an intracranial off-midline mature teratoma and pneumosinus dilatans in an 18-year-old male patient who presented with a second episode of a left-sided seizure, which has not yet been reported in the literature.

Twelve-year experience of pineal region meningiomas: long-term outcomes of maximal safe resection.

The purpose of this research was to summarize the clinical and prognostic features of pineal region meningiomas, evaluate treatment strategies and long-term prognoses, and improve the management of pineal region meningiomas. We retrospectively studied the data of 37 patients who received surgical resection for pineal region meningiomas at West China Hospital of Sichuan University from 2009 to 2021. Adjuvant gamma knife radiosurgery (GKRS) was conducted according to the extent of resection (EOR). Progression-free survival (PFS), Karnofsky performance status (KPS) scores and recovery of neurological function were adopted to assess a comprehensive management strategy for pineal region meningiomas. The most common symptom was headache associated with intracranial hypertension (75.7%). The occipital transtentorial approach (40.5%) and supracerebellar infratentorial approach (29.7%) were performed in most cases. Gross total resection (GTR) was achieved in 27 patients (73.0%) and the remaining patients were treated with subtotal resection (STR) combined with postoperative GKRS. With a mean follow-up period of 87.0 months, the progression rate was 10.0%, the 5-year PFS rate was 92.9%, and the ΔKPS was 16.3. Multivariate analysis revealed that the STR + GKRS and supracerebellar infratentorial approach were beneficial to the recovery of quality of life of patients. Pineal region meningiomas are sporadic but challenging. It is necessary to select the most appropriate surgical approach, EOR, and hydrocephalus treatment strategy for patients with pineal region meningiomas. Maximal safe resection to protect neurovascular function combined with postoperative GKRS can significantly improve the quality of life of patients.

The Clinical and Molecular Landscape of Rosette-Forming Glioneuronal Tumors.

Rosette-Forming Glioneuronal Tumors (RGNTs) are rare, typically benign central nervous system tumors primarily located in the fourth ventricle and pineal region. Despite being classified as WHO grade I with generally favorable prognoses, RGNTs present complexities in their molecular mechanisms, occasional malignant transformation, and epidemiological characteristics that require further investigation. This study systematically reviews the existing literature to analyze the epidemiological patterns, MRI characteristics, pathological features, diagnostic challenges, and molecular mechanisms associated with RGNTs, aiming to provide a comprehensive theoretical foundation for clinical practice and future research. Through an in-depth review of recent studies, key molecular mechanisms, including mutations in FGFR1, PIK3CA, TERT, and IDH1/2, are highlighted. Additionally, the challenges in accurate diagnosis and the potential for misdiagnosis are discussed, emphasizing the importance of thorough molecular analysis in clinical settings. The literature indicates that RGNTs predominantly affect young adults and adolescents, with a slight female predominance. MRI typically reveals mixed cystic-solid lesions, often accompanied by hydrocephalus. Pathologically, RGNTs are characterized by a combination of neuronal and glial components, with immunohistochemical staining showing positivity for Synaptophysin and GFAP. High frequencies of FGFR1 and PIK3CA mutations underscore the significance of these pathways in RGNT pathogenesis and progression. Although RGNTs generally exhibit low malignancy, the TERT mutations identified in some cases suggest a risk of malignant transformation. This study concludes that while current treatment strategies focus on surgical resection, integrating molecular diagnostics and targeted therapies may be essential for managing recurrent or refractory RGNTs. Future research should explore the impact of various gene mutations on tumor behavior and their correlation with clinical outcomes, to optimize individualized therapeutic strategies and improve patient survival and quality of life.

Metastatic Intracranial Choriocarcinoma in the Absence of a Primary Lesion: A Case Report

AbstractIntracranial choriocarcinoma is a rare and aggressive neoplasm characterized by the proliferation of trophoblastic tissue. Although choriocarcinoma most commonly arises in the uterus as a component of gestational trophoblastic neoplasia, instances of intracranial choriocarcinoma are exceptionally uncommon. We report a case of intracranial choriocarcinoma without any evidence of a tumor elsewhere. A 25-year-old woman presented with a history of 1 month of evolution with right frontal hemicranial headache, followed by visual disturbances, otalgia, and diplopia. On neurological examination, she was conscious, cooperative, and well-oriented; a grade 1 bilateral papilledema, left homonymous hemianopsia, and sixth cranial nerve paresis, with diplopia, were detected. Neuroimaging showed a right parieto-occipital lesion with features mimicking an atypical meningioma. After surgical resection, a diagnosis of choriocarcinoma was issued. Primary intracranial choriocarcinomas are typically located in the sellar and pineal regions. The occurrence of this tumor within the occipital lobe suggested metastasis; however, a primary tumor in the thoracic or abdominal organs was not observed and a delayed metastasis was considered. This case highlights the diagnostic challenges associated with intracranial choriocarcinoma.

PDOC-13 ACCESS TO CARE OF CHILD DIAGNOSED WITH PINEOBLASTOMA AND NURSING CHALLENGES TO ADDRESS THE NEEDS ARISE

Abstract Patient Alu (not her real name) was 8 years old girl when diagnosed with Pineoblastoma causing obstructive hydrocephalus. Presented initial at Primary health care with headache,photophobia,lethargic and vomiting for two weeks. CT scan and MRI(Magnetic resonance imaging) were done on arrival to our care and revealed Pineal region tumour. Biopsy were done. Radiotherapy,surgery,chemotherapy including rehabilitation were planned by Multidisciplinary team. This case study focus on the access of care needs of this patient and the family with an emphasis on the Nurses challenges to address those needs. Medical records were retrospectively reviewed for this Patient from June 2021 on the onset of presenting symptoms and initial admission in Redcross War Memorial Children’s Hospital at Cape Town South Africa up to March 2024 last admission in Hospital. Found that were levels of unmet needs some areas of difficulty are not discussed, some areas family feels difficult to explain or mention such as emotional burnout, language, cultural, spritual and schooling etc. In view of all this Nurses may focus on supporting families on discharge and during admission, working better relationship with Primary health care, appropriate referrals for counseling for coping mechanism. Financial constrains is still a major issue throughout.

PADV-01 CHALLENGES OF NEURO-ONCOLOGY CARE IN ZIMBABWE

Abstract Due to the advent of covid 19 coupled with the socio-economic crisis in Zimbabwe, this has resulted in numerous challenges in terms of health care access and resultant diagnostic and treatment barriers for neuro-oncology cases. A retrospective analysis of the burden of neuro-oncology cases which have been seen at a single center in Zimbabwe over the past 5 years and the resultant diagnostic and treatment barriers that have incurred. METHODS An audit of brain tumor cases was done through the analysis of Outpatient department records, Neurosurgery Admission records, and Neurosurgery theatre records at Sally Mugabe Central hospital. RESULTS Total number of cases recorded for the period were 71. Meningiomas 11 (15,5%), Posterior fossa tumors 12 (17%), Gliomas 6 (0.08%), Craniopharyngiomas 6(0.08%), Metastasis 5(0.07%), Pituitary tumors 4(0.06%), choroid plexus papilloma 3(0.04%), Lymphoma 2(0.03%), Pineal region tumor 1(0.01%). 21(30%) tumors were unclassified. Posterior fossa tumors were most common in the pediatric population less than 10years of age. Meningiomas had a female to male ratio of 1.75: 1. 9 (12%) patients were operated on during the same period mostly pediatric tumors. CONCLUSION There is a great deal of institutional as well as patient related factors affecting the diagnosing and treatment of neuro-oncology care in Zimbabwe. This includes lack of operating time, inadequate intensive care facilities, a general unavailability of medical imaging services, delay in pathological reporting, unavailability and costly adjuvant treatment. This is leading to late diagnosis and suboptimal treatment of the various tumors. Although brain tumors are rare, they are not uncommon and there is thus need to improve service delivery to ensure early diagnosis and treatment to have good outcomes.

Blindness due to the third eye: Sudden visual loss in pineal gland tumor

We report a rare case of sudden visual loss in a 9-year-old child with a pineal gland tumor. At presentation, examination revealed nil light perception in both eyes, features suggestive of Parinaud’s syndrome and one-and-a-half syndrome, and a normal fundus. Neuroimaging revealed a pineal region mass compressing the midbrain, aqueduct of Sylvius, and third ventricle, with the latter being displaced anteriorly. The patient underwent ventriculoperitoneal shunting, after which the visual perception recovered and was followed by mass excision. Although the mechanism of brainstem symptoms is typical, pineal gland tumors are not a known cause of sudden vision loss.

DNA methylation profiling in a case of papillary tumor of the pineal region.

DNA methylation profiling in a case of papillary tumor of the pineal region.

Letter to the Editor Regarding “Simultaneous Single-Trajectory Endoscopic Biopsy and Third Ventriculostomy in Pineal Region Tumors: A Systematic Review and Single Arm Meta-Analysis”

Letter to the Editor Regarding “Simultaneous Single-Trajectory Endoscopic Biopsy and Third Ventriculostomy in Pineal Region Tumors: A Systematic Review and Single Arm Meta-Analysis”

AB039. Malignant transformation of intracranial germinoma to non-germinomatous germ cell tumors-incidence, treatment strategy and outcome: a case report and literature review.

Intracranial germ cell tumors are rare neoplasms seen mainly in children and adolescents. Compared to non-germinomatous germ cell tumors (NGGCTs), germinomas typically respond well to chemo-radiotherapy and portend a better prognosis. We report here a patient with intracranial germinoma which showed complete remission following chemo-radiotherapy but re-presented with malignant transformation to NGGCT thirteen years later. We then performed a literature review to understand the treatment strategy and outcome of this rare phenomenon. Review of the patient's case note, followed by a literature review of the topic. A 13-year-old male presented with 6 weeks of polyuria and polydipsia. Imaging showed bifocal (suprasellar and pineal) lesions. Histology from an open biopsy diagnosed a germinoma. He underwent extended whole ventricular irradiation with local boost and chemotherapy, which led to complete resolution on imaging. Thirteen years later, he re-presented with headaches and diabetes insipidus. Imaging showed a new right frontal lesion with elevated serum beta-human chorionic gonadotropin (β-hCG) and alpha-fetoprotein (AFP). The tumor was excised with histology confirming a mixed tumor comprising germinoma, yolk sac, and choriocarcinoma. A literature review returned eight case reports of malignant transformation of intracranial germinoma to NGGCTs, covering eight patients (seven males, and one female; aged 5-23 years old). Four had the primary tumor located in the pineal region, three in the suprasellar region, and one at both sites. Recurrence with malignant transformation occurred at a median of 24.5 months after initial diagnosis (range, 5 months to 14 years). Five patients had recurrences intra-abdominally, all of whom had a ventriculoperitoneal shunt (VPS) inserted during the treatment of the initial tumor. Of the remaining three intracranial recurrences, two were at the same site while one at a distant site. The most common histology was yolk sac tumor (five patients), followed by two each of immature teratoma, choriocarcinoma, and embryonal carcinoma (some were mixed germ cell tumors). Of those with intra-abdominal recurrence, four died within 2 months of diagnosis. Those with intracranial recurrences survived longer, with a median survival of 15 months, and one longer than 27 months. Malignant transformation to NGGCTs is rare. Relapse can occur intracranially, or in cases where VPS was present, intraabdominally. Outcomes following transformation were poor despite aggressive treatment, with those intra-abdominal recurrences faring much worse.

SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors.

Pineal parenchymal tumors are rare neoplasms for which evidence-based treatment recommendations are lacking. These tumors vary in biology, clinical characteristics, and prognosis, requiring treatment that ranges from surgical resection alone to intensive multimodal antineoplastic therapy. Recently, international collaborative studies have shed light on the genomic landscape of these tumors, leading to refinement in molecular-based disease classification in the 5th edition of the World Health Organization (WHO) classification of tumors of the central nervous system. In this review, we summarize the literature on diagnostic and therapeutic approaches, and suggest pragmatic recommendations for the clinical management of patients presenting with intrinsic pineal region masses including parenchymal tumors (pineocytoma, pineal parenchymal tumor of intermediate differentiation, and pineoblastoma), pineal cyst, and papillary tumors of the pineal region.

Papillary tumor of the pineal region: analysis of DNA methylation profiles and clinical outcomes in 76 cases

Papillary tumor of the pineal region (PTPR) is an uncommon tumor of the pineal region with distinctive histopathologic and molecular characteristics. Experience is limited with respect to its molecular heterogeneity and clinical characteristics. Here, we describe 39 new cases and combine these with 37 previously published cases for a cohort of 76 PTPR’s, all confirmed by methylation profiling. As previously reported, two main methylation groups were identified (PTPR-A and PTPR-B). In our analysis we extended the subtyping into three subtypes: PTPR-A, PTPR-B1 and PTPR-B2 supported by DNA methylation profile and genomic copy number variations. Frequent loss of chromosome 3 or 14 was found in PTPR-B1 tumors but not in PTPR-B2. Examination of clinical outcome showed that nearly half (14/30, 47%) of examined patients experienced tumor progression with significant difference among the subtypes (p value = 0.046). Our analysis extends the understanding of this uncommon but distinct neuroepithelial tumor by describing its molecular heterogeneity and clinical outcomes, including its tendency towards tumor recurrence.

A rare case of pineoblastoma – Case report

Pineoblastoma is a very rare and aggressive malignant tumor of pineal gland. We report a case of 12-year-old male patient presented to S.V.P. tertiary care hospital with complain of progressive loss of vision in both eyes with nausea and headache. On examination bilateral upward gaze palsy was present. The magnetic resonance imaging report revealed possibility of pineal Germinoma. The patient underwent ventriculoperitoneal shunt insertion surgery for obstructive hydrocephalus and suboccipital craniectomy for tumor resection. The Histopathological examination report stated the tumor as Pineoblastoma, Grade IV. Immunohistochemistry studies were positive for synaptophysin and Integrase interactor-1 (INI-1) markers with high ki-67 labelling index and negative for CD-117 and Glial fibrillary acid protein (GFAP) markers. Microscopic and Immuno histochemisty findings are important to differentiate pineoblastoma from other pineal region tumors.

Pituitary germinoma after resection of a mature third ventricular teratoma: illustrative case.

Metachronous intracranial germ cell tumors (iGCTs)-unrelated, histologically different iGCTs occurring at different time points-occurring within the same patient remain a rarity. Herein, the authors report such a case and discuss the literature and potential pathophysiological mechanisms leading to this phenomenon. A 9-year-old boy presented with new-onset impaired balance, headaches, nausea, visual disturbances, and left facial paresis. Magnetic resonance imaging (MRI) scans revealed a suspected pineal region teratoma originating from the pineal gland with consecutive obstructive hydrocephalus. A mature teratoma was diagnosed and resected. Postoperative recovery was good, and the patient could return to his normal daily activities. However, a new, slowly progressive lesion in the sellar region with an enlarged infundibular stalk was detected on follow-up MRI 3.5 years after initial pineal region teratoma resection. Biopsy revealed a newly developed pure germinoma. The patient was treated with radiotherapy plus chemotherapy and remained relapse free at the last follow-up. Sixteen other cases have reported a surgically resected primary mature teratoma, wherein patients developed metachronous germinomas during follow-up. Different theories try to elaborate this phenomenon, yet none can completely account for it. Although rare, metachronous iGCT is a phenomenon neurosurgeons should be aware of. In patients treated for iGCT, close long-term clinical, imaging, and laboratory follow-up is recommended. https://thejns.org/doi/10.3171/CASE2443.

The Prognostic Value of Immunonutritional Indexes in Pineal Region Tumor

Abstract Background Recent studies have identified immunonutritional indexes such as hemoglobin–albumin–lymphocyte–platelet (HALP) score, prognostic nutritional index (PNI), and neutrophil-to-lymphocyte ratio (NLR) in various malignancies. However, there is a lack of studies to indicate whether the immune-nutritional indexes can predict the prognosis of patients with pineal region tumors. The objective was to estimate the prognostication of immune-nutritional indexes in patients with pineal region tumors. Methods A retrospective cohort investigation involving 51 patients with pineal region tumors was conducted. Therefore, the HALP score, PNI, and NLR were measured for each patient before surgery. The association between the immune-nutritional indexes and prognosis was analyzed using Cox hazard regression. Results For the total cohort, 1-, 2-, and 5-year survival probabilities were 92% (95% confidence interval [CI] 85–99.8), 92% (95% CI 85–99.8), and 81% (95% CI 70–94.1), respectively. HALP scores were positively associated with survival benefits. At the cutoff threshold of 22.6, the high-HALP group had a significantly longer survival time than the low-HALP group (hazard ratio 0.25, 95% CI 0.06–1.00, p-value 0.05). Conclusion The preoperative HALP score is an independent prognostic factor for patients diagnosed with pineal region tumors. Furthermore, prospective multicenter studies ought to be performed in the future to externally validate the immunonutritional indexes' prognostication.

Microsurgical Management of Pineal Region Tumors

BackgroundPineal tumours are rare and the pineal region is a challenging surgical location for neurosurgeons. The present study aimed to investigate the effects of microsurgical management in patients with pineal region tumours and explore probable factors associated with preoperative hydrocephalus, postoperative hydrocephalus remission, and prolonged length of hospital stay (LoS). MethodsA retrospective study of patients with pineal region tumours, who underwent microsurgical management at the First Affiliated Hospital of Soochow University(Jiangsu, China) between 1 January 2010 and 31 October, 2022, was conducted. ResultsData from 36 patients were included in this study. The top five common symptoms included headache (58%), dizziness (44%), double vision (22%), vomiting (19%), and nausea (14%). Patients with a lower Karnofsky Performance Score (KPS), younger age, and larger maximum tumour diameters were more vulnerable to preoperative hydrocephalus. Preoperative hydrocephalus also led to a prolonged postoperative LoS (P=0.021). Patients with a lower KPS score (P=0.020) or larger maximum tumour diameters (P=0.045) were more likely to achieve postoperative remission of hydrocephalus. Most postoperative complications led to increased hospital LoS. ConclusionMicrosurgical resection of pineal tumours yielded favourable long-term outcomes. Patients with a lower KPS score, younger age, and larger maximum tumour diameters were more vulnerable to preoperative hydrocephalus and prolonged LoS. Patients with a lower KPS score or larger tumour diameter were likely to achieve significant remission of hydrocephalus after tumour resection.

The occipital interhemispheric transtentorial approach: historical perspective and evolution over time.

Access to the pineal region has always represented a fascinating challenge to the neurosurgeons. Almost equally thrilling is the historical evolution from the hard beginnings with extremely high mortality rates to the current surgical outcomes, with excellent resection rates without long-term morbidity for most of the patients. The purpose of this paper is to provide an overview of the historical evolution of the occipital interhemispheric transtentorial (OITT) approach and its role in the development of access to the pineal region. Review of the literature highlights the occipital transtentorial approach from the historical context prior its description and the beginning to the current modifications and new recent insights. The occipital transtentorial approach described initially by Poppen in 1966 has played a key role in the progress and success accessing the pineal area. This historical review aims to highlight the extraordinary effort of those neurosurgeons who guided and led the development of one of the most important approaches to the pineal region.