bluuebunny/crossref_metadata_2025_split huggingface dataset:
P20.13.B LHERMITTE-DUCLOS DISEASE - AN ILLUSTRATED SURGICAL CASE REPORT
Authors: Casimiro C D , Carneiro M , Monteiro J , Dias F 
Published: October 2024

Abstract

BACKGROUND
Dysplastic gangliocytoma of the cerebellum/Lhermitte-Duclos disease is a rare pathologic condition of uncertain etiology, characterized by the presence of a slow growing cerebellar tumor with very typical appearance on MRI and benign histopathological features. In adults it is part of the Cowden syndrome, an autosomally dominant genetic disorder characterized by the development of multiple body hamartomas and also an increased likelihood of malignant neoplasms.

METHODS
Report of a surgical case.

RESULTS
We report the rare case of a 31 years old female that presented with a history of headache, episodes of vomiting and progressive visual impairment since the previous year. The patient had several malformative features such as macrocephaly, retrognathism and short hands. The neurological examination was positive for mild appendicular dysmetria and bilateral papilledema. A CT scan showed an enlargement of the supratentorial ventricular system and a hypodense left cerebellar hemispheric lesion with moderate mass effect. A subsequent MRI showed an intrinsic expansive hemispheric lesion, with striated folial pattern (“tigroid” appearance), hyperintense on T2 and with no contrast enhancement; there was moderate cerebellar amygdala ectopy, a constitutive reduced amplitude of the posterior fossa and an extensive cervico-dorsal syrinx, features compatible with a Chiari type 1 malformation. The patient underwent surgery for lesion removal via a sub-occipital craniotomy and EVD placement, later removed without need for shunting. Post operative MRI was negative for complications but raised the question about a small antero-lateral residue. Pathology showed a dysplastic gangliocytoma (WHO grade 1) compatible with Lhermitte Duclos (which in adults is pathognomonic of Cowden Syndrome). During follow up the patient developed neck stiffness due to cervical muscle contracture which progressively improved. Headache and visual impairment also progressively improved. Given this diagnostic the patient is now under extensive clinical and serial imaging follow up. MRI at 3 months after surgery showed mass effect resolution on the posterior fossa, with improvement of the cerebellar tonsils ectopy and a smaller residual syrinx.

CONCLUSION
We report a rare case of Lhermitte Duclos disease that was diagnosed and treated successfully with surgery. The subsequent improvement of ventriculomegaly, the Chiari-like findings, and syrinx was remarkable, without the need for additional posterior fossa decompression surgery. A close and long follow up is needed in order to anticipate and diagnose the possible manifestations of this rare syndrome.
P20.14.A METASTATIC EPITHELIOD SOLITARY FIBROUS TUMOR
Authors: Wang R , Pejhan S , Ang L , Megyesi J 
Published: October 2024

Abstract

BACKGROUND
Epitheliod solitary fibrous tumor is a rare central nervous system tumor that can rarely metastasize. An unusual case is illustrated.

MATERIAL AND METHODS
A 76 year old man underwent resection of a lower cervical spinal cord (C5-C7) tumor that was called hemangiopericytoma at time of resection. He was treated with radiotherapy. Twenty-four years later he presented with headache and gait ataxia and neuroimaging revealed a 4th ventricular tumor. He underwent surgical resection via a suboccipital craniectomy.

RESULTS
Pathology showed a hypercellular tumor composed of epitheliod cells with eosinophilic cytoplasm and moderately pleomorphic enlarged oval nuclei containing finely dispersed chromatin and prominent eosinophilic nucleoli in some nuclei. The tumor cells were arranged in nests and sheets separated by thin walled branching to thick walled hyalinized vessels with frequent areas of hemorrhage. Tumor cells showed high mitotic activity (about 8 mitoses/mm squared). The majority of tumor cells were positive for CK7, synaptophysin, E-cadherin, and rarely for CK20 and D2-40. Tumor cells were negative for EMA, transthyretin, myogenin, desmin, progesterone receptor, NeuN, Olig-2, TTF-1, GATA3, PAX8, OCT3/4, SALL4, CD117, S100 and GFAP. Vasculature was highlighted by PAS, reticulin, CD31, ERG, and CD34. INI-1 was intact in the nuclei. Final diagnosis was epitheliod solitary fibrous tumor, at least CNS WHO grade 2. This was consistent with the pathology from 24 years prior.

CONCLUSION
Solitary fibrous tumor is known for recurrence and metastasis a long time after initial diagnosis. However, this case highlights the delayed metastatic spread of a relatively rare subtype of solitary fibrous tumor (epitheliod) to a rare location (intraventricular, specifically the 4th ventricle). The literature will be reviewed.
P20.15.B MOLECULAR CHARACTERIZATION OF ADULT NON-GLIOBLASTOMA CENTRAL NERVOUS SYSTEM (CNS) TUMORS TO IDENTIFY POTENTIAL TARGETTABLE ALTERATIONS
Authors: Padovan M , Bosio A , Cella E , Maccari M , Cerretti G , Corrà M , Caccese M , Lombardi G 
Published: October 2024

Abstract

BACKGROUND
NGS panels in oncology offer personalized therapies based on genomic alterations, but data on their clinical use and efficacy for non-glioblastoma CNS tumors is limited.

MATERIAL AND METHODS
This study aimed to explore the molecular landscape of non-glioblastoma CNS tumors in patients (pts) who underwent FoundationOne®CDx testing between 11/2019 and 04/2023 at Veneto Institute of Oncology, Padua (Italy), while also assessing access to TT. Analysis was conducted on formalin-fixed paraffin-embedded tumor samples, comprising a cohort of 176 adult CNS tumor pts. Brain tumors were classified per WHO 2021.

RESULTS
Our cohort was constituted by: 19 Grade 2 IDH mut astrocytomas (A); 35 G3 IDH mut A; 34 G4 A; 29 oligodendrogliomas; 4 diffuse midline gliomas; 3 gangliogliomas; 3 pleomorphic xanthoA; 30 meningiomas; 4 medulloblastomas; 5 ependymomas; 2 neuroblastomas; 3 schwannomas; 4 pituitary adenomas; 1 hemangiopericytoma.The most frequent targettable molecular alterations (ESCAT ESMO Scale for Clinical Actionability of molecular Targets IIB-IIIB) were: PIK3CA/B mutations (14.2%), NF1 and NF2 mutations (10.2 and 13%, respectively), BRCA 1-2 mutations (8%), POLE mutation (7.4%), high tumor mutational burden (TMB) (&gt;10 mut/megabase) (6.8%), PDGFRA alterations (6.2%), BRAF non-V600E alterations (5.1%), RET and ROS1 mutations (3.4% and 2.8% respectively), MDM2 amplification (2.3%), FGFR1-2-3 alterations and H3K28M (1.7%), MET amplification (1.7%), ALK rearrangements (1%). NTRK fusions and BRAF V600E mutations have not been detected. 3 of 4 medulloblastomas pts exhibited a PTCH1 mutation.4 pts received TT at recurrence, within clinical trials: one with grade 3 meningioma and ALK rearrangement treated with alectinib, one with PTCH1 mutant medulloblastoma treated with vismodegib, and two with high TMB treated with nivolumab/ipilumumab. Immune checkpoint inhibitors have shown remarkable activity in a meningioma patient, who is undergoing treatment for 12 months and has achieved a complete response according to RANO criteria, while another has had stable disease with alectinib for 7 months. In other cases TT did not demonstrate activity in controlling disease.

CONCLUSION
The incidence of targettable molecular alterations in adult CNS tumor patients was lower than in GBM. Nevertheless, in a few selected cases TT have the potential to increase treatment options at recurrence and improve outcomes.
P20.17.B PRIMARY CEREBRAL T-CELL LYMPHOMAS DISPLAY AN ATYPICAL PRESENTATION: A LOC STUDY
Authors: NDIAYE M B , Jabeur W , Mokhtari K , Gaulard P , Choquet S , Nichelli L , Mathon B , Le Garff Tavernier M , Soussain C , Moluçon-Chabrot C , Gressin R , Ghesquières H , Houot R , Tricot S , Waultier D , Ahle G , Schmitt A , Emin A , Bonnet A , Xuan K H , Houillier C 
Published: October 2024

Abstract

BACKGROUND
Primary cerebral T-cell lymphomas are very rare and remain poorly known as opposed to diffuse large B-cell lymphomas (DLBCL) that account for more than 90% of all primary central nervous system lymphomas (PCNSL). The aim of the present study was to describe the characteristics of primary T-cell lymphomas, as well as their treatment and outcomes.

MATERIAL AND METHODS
We retrospectively selected from the French LOC (“Lymphomes oculo-cérébraux”) database the cases of primary T-cell lymphomas diagnosed between January 2011 to December 2023.

RESULTS
Of the 2966 patients diagnosed with PCNSL between January 2011 and February 2024, 16 patients (0.54%), including 9 men, were diagnosed with primary T-cell lymphoma. Their median age was 60 years [25-80], their median KPS was 70 [20-90]. The mean delay between first symptoms and diagnosis was 78 days [13-365]. Four patients had a history of auto-immune disease and 2 patients were under immunosuppressive therapy. Six patients harboured a classical aspect of brain lymphoma on MRI (tumor with intense and homogeneous contrast enhancement). In ten patients, the MRI presentation was atypical and other diagnoses were suspected before brain biopsy: high-grade gliomas in six immunocompetent patients with necrotic/hemorrhagic lesions, cerebral vasculitis in 2 patients, gliomatosis cerebri in one patient and cerebral metastasis in one patient. The histological diagnosis was NOS peripheral T-cell lymphoma in 8 patients, anaplastic large-cell lymphoma in 4 patients (2 ALK negative, 1 ALK positive, 1 undetermined), EBV-negative NK-T-cell in 1 patient, T-cell lymphomatosis cerebri in 1 patient (2 missing data). Clonality assessment by PCR found a TCR clonal rearrangement in 5/7 cases.Fifteen of 16 patients were treated with high dose methotrexate-based chemotherapy as induction therapy in first-line treatment. Six patients received intensive chemotherapy with autologous stem cell transplantation during their follow-up Nine patients relapsed, either during first-line treatment (N=3) or during the follow-up after treatment (N=6). The median follow-up was 32 months. The 2-year PFS rate was 46% (95% CI: 26-81) The 2-year OS rate was 67% (46-96) Conclusion: T-cell lymphoma represents a rare and severe form of PCNSL. It often occurs in patients with a different background than in DLBCL: younger patients, history of autoimmune disease or immunosuppression. The diagnosis can be challenging as the radiological presentation is most often atypical, often mimicking high grade gliomas or vasculitis, leading to a delayed diagnosis.
P20.18.A PRIMARY MENINGEAL MELANOCYTIC TUMORS (PMMT): A REVIEW FROM THE ULTRA RARE BRAIN TUMORS DOMAIN OF THE EURACAN
Authors: Pellerino A , Verdijk R M , Bertero L , Nichelli L , Andratschke N H , Idbaih A , Goldbrunner R 
Published: October 2024

Abstract

INTRODUCTION
PMMT are ultra rare entities with distinct histological and molecular features as compared with other melanocytic or pigmented intracranial lesions.

METHODS
The EUropean Network for RAre CANcers (EURACAN) Task Force on Ultrarare Brain Tumors (domain 10) has perfomed a literature revision from January 1985 to December 2023 regarding the evidence of epidemiologic and clinical characteristics, histological and molecular features, radiological findings, and activity of local and systemic therapies.

RESULTS
Molecular analysis can detect specific mutations, including SF3B1, EIF1AX, BAP1, NRAS and BRAF, that are found in PMMT and not in other melanocytic lesions. Neuroimaging shows the leptomeningeal involvement with or without parenchymal lesions with meningeal base implant, delineate the extension with respect to adjacent structures, but cannot reveal the aggressiveness of the disease. Gross-total resection is the first choice in case of circumscribed meningeal melanocytoma and melanoma; conversely, meningeal biopsy may be reserved for patients with diffuse and multinodular leptomeningeal spread to achieve a definitive diagnosis. High-dose radiotherapy is rarely indicated in diffuse melanocytic tumors except as palliative treatment to alleviate symptoms. A definitive advantage of a specific systemic treatment over other could not be concluded, as most of the data available derive from case reports or small cohorts.

CONCLUSIONS
As PMMT are extremely rare, weak correlations between clinical characteristics, molecular profile, radiological findings at diagnosis and progression, and poor evidence on the best therapeutic approach are available thus far. There is the need to develop shared platforms and registries to capture more knowledge regarding these ultra rare entities
P20.19.A RARE CASE OF PRIMARY BRAIN AMYLOIDOMA
Authors: Ivan R , Signate A , Puget S , Sirbu C A 
Published: October 2024

Abstract

BACKGROUND
Cerebral amyloidoma, composed of insoluble fibrillary proteins, is one of the rarest forms of amyloid deposition. It resembles a tumor, with a variable clinical presentation that can include vision loss, behavioral changes, cognitive issues, and recurrent headaches. It has a slow evolution pattern, without characteristics of dissemination.

MATERIAL AND METHODS
We present the case of a 56-year-old patient, who presented with a sensory loss on the right side of the body, progressive memory troubles of one-year duration, and later a left homonym hemianopsia. She underwent a cerebral MRI that showed a right parietal-temporal heterogenous lesion, with contrast enhancement as well as a right parieto-occipital smaller lesion, with a differential diagnostic of glial tumor or cerebral lymphoma. A stereotactic biopsy of the mass was made by the neurosurgeon with a subsequent anatomopathological examination.

RESULTS
The histopathological result was consistent with a cerebral amyloidoma AL with lambda chains, without an associated lymphatic lesion. The systemic extension was also evaluated, without signs of systemic amyloidosis (salivary gland biopsy, thoracic abdominal pelvic scan, myelogram, and a urinary analysis). Hematological and ophthalmological consults were also made.

CONCLUSION
Given the age and the progressive clinical course, the treatment proposed was with Revlimid and Dexamethasone, along with a periodical surveillance with cerebral imaging and neurological consultations. The evolution remained stable at the moment of the publication of this report.
P21.03.B PSYCHOLOGICAL FACTORS AND LONG-TERM TINNITUS HANDICAP IN VESTIBULAR SCHWANNOMA PATIENTS AFTER RETROSIGMOID MICROSURGERY - A CROSS-SECTIONAL STUDY
Authors: Rutenkröger M , Scheer M , Rampp S , Strauss C , Schönfeld R , Leplow B 
Published: October 2024

Abstract

BACKGROUND
This study aimed to investigate the connection between psychological factors and postoperative tinnitus in vestibular schwannoma (VS) patients following retrosigmoid microsurgery.

MATERIAL AND METHODS
Ninety-three VS patients participated, completing questionnaires on demographics, tinnitus severity (THI-12), personality traits (TIPI-G), dizziness impact (DHI), perceived health benefits (GBI),somatisation tendencies (SOMS-2), and psychological distress (HADS-D). Our analysis involved Mann-Whitney U-tests, Spearman’s rank-order correlations, and false discovery rate correction.

RESULTS
Most participants reported postoperative tinnitus (77/93), with 41 experiencing it preoperatively. Emotional stability correlated negatively with tinnitus presence, while tinnitus severity was associatedwith emotional distress. Preoperative somatisation tendencies were also positively linked to tinnitus severity. Postoperative Tinnitus was further linked to reduced perceived health benefits and increased anxiety and depression levels. Notably, age and gender showed no significant associations.

CONCLUSION
This study uncovers the interplay between postoperative tinnitus and psychological factors in VS patients, highlighting emotional and cognitive dimensions. Tailored psychological interventions addressing tinnitus‘s psychosomatic impact may enhance patients quality of life.
P22.04.B BALANCING COMMUNICATION CHALLENGES IN NEURO-ONCOLOGY: A CROSS-SECTIONAL INTERVIEW STUDY WITH NEURO-ONCOLOGY HEALTHCARE PROFESSIONALS
Authors: Legge D M , Jeon M , Banks H , Shaw J , He S , Carlick T , Breen L J , Laidsaar-Powell R , Halkett G K B , Dhillon H 
Published: October 2024

Abstract

BACKGROUND
Primary brain tumours are associated with a significant symptom burden and high supportive care needs, presenting in varied and unique ways along the disease trajectory. Timely and comprehensive patient navigation is vital to ensuring both people with brain tumours (PwBT) and their caregivers have the resources and support needed to negotiate the multidisciplinary team, treatment pathways and survivorship care. We explored HCPs’ experiences and perceptions of the particular challenges in communicating with PwBT and their families. Material and Methods:This study formed part of a qualitative exploratory study investigating the roles, training and support needs of healthcare professionals involved in neuro-oncology care coordination (NOCC) for PwBT and their families. Semi-structured interviews were conducted with HCPs via videoconferencing and were audio-recorded and transcribed. Questions focused on communication experiences and challenges in the NOCC role. Themes were developed in the data using interpretive description with three coders using NVivo v14 software.

RESULTS
Interviews were conducted with 12 HCPs between June and November 2023, lasting a median of 58 (range: 43-82) minutes. Participants were from Australia and Aotearoa New Zealand with a median of 13 years of neuro-oncology clinical experience across medical, nursing, and allied health disciplines. An overarching meta-theme of ‘communication is key’ was identified and supported by three themes describing the elements of communication in neuro-oncology: 1) In safe hands; describing the way care is navigated for patients and families, and the importance of providing a safety net during diagnosis and early treatment; 2) Delicate balance; recognising elements of communication needing to be balanced during each interaction. Balancing hope with reality, family with patient needs, process with time. 3) Creative communication; describing the importance of creative and adaptable communication styles required for NOCC.

CONCLUSION
Our results highlight the unique challenges and complex nature of communicating with PwBT and their families and the pivotal nature of communication in NOCC. The findings will support the development of training and support for health professionals already working within neuro-oncology and assist in defining the core skill set and training needs of health professionals seeking to move into this area of practice.
P22.13.B QUALITY OF LIFE DISPARITIES AMONG VESTIBULAR SCHWANNOMA PATIENTS UNDER DIFFERENT TREATMENT REGIMENS: A SYSTEMATIC REVIEW
Authors: Rutenkröger M , Brandes L , Führes H 
Published: October 2024

Abstract

BACKGROUND
Evaluating the quality of life in vestibular schwannoma patients is crucial for gaining insights into the broader impact of the condition and its treatments. Understanding how vestibular schwannoma affects physical, emotional, and social well-being is essential for comprehensive patient care. Quality of life assessments illuminate the unique challenges faced by patients, including hearing loss and balance issues, guiding healthcare professionals in tailoring treatment plans to improve overall well-being. Furthermore, such evaluations contribute to advancing medical knowledge and developing more patient-centered approaches to managing vestibular schwannoma.

MATERIAL AND METHODS
We conducted a systematic literature search across four databases— MEDLINE, Web of science, Cochrane Library and PSYNDEX—to identify pertinent studies reporting disease-specific quality of life measures (PANQOL) in patients with vestibular schwannoma. Stringent blinding procedures were implemented during the screening stage, yet determinations regarding study eligibility and data extraction were carried out independently by two reviewers. Our overarching goal is to systematically synthesize available data, offering a comprehensive overview of the variations in quality of life among individuals undergoing diverse treatment modalities for this condition. Should a sufficient volume of data be accessible, we intend to progress to a comprehensive meta-analysis.

RESULTS
During our screening process, we initially identified 548 articles, of which 317 have progressed to the ongoing stage of abstract screening. This extensive process aimed to include studies specifically reporting disease-specific quality of life measures in vestibular schwannoma patients.

CONCLUSION
We anticipate presenting comprehensive results from our systematic review at the upcoming conference. The results aim to enhance our comprehension of the multifaceted impact of vestibular schwannoma on patients and establishes a foundation for the development of more personalized, patient-centered strategies in managing patient education and post-treatment care for this condition.
P22.15.B THE DEVELOPMENT OF C-SMART: A NOVEL COGNITIVE REHABILITATION AND MINDFULNESS INTERVENTION FOR PATIENTS WITH BRAIN TUMORS
Authors: Braun S E , Zarrella G , Fox A , Loughan A , Lanoye A , Parsons M , Beach W , Palesh O , Moeller F 
Published: October 2024

Abstract

BACKGROUND
Patients diagnosed with brain tumors experience significant cognitive sequelae, yet they remain underrepresented in behavioral intervention research. We present the development and initial results from the pilot study of C-SMART (Cognitive Strategies, Mindfulness, and Rehabilitation Therapy), an integrated cognitive rehabilitation and mindfulness intervention for patients with brain tumor and mild cognitive decline. We incorporated key stakeholders and content experts’ opinions as a critical first step in developing empirically supported treatments for these underserved patients. We also present preliminary feasibility and acceptability data from an ongoing single-arm pilot study.

METHODS
Following the NIH Stage Model for Behavioral Intervention Development, a Stage Ia study convened two expert advisory boards (EABs), one comprised of brain tumor patients and their caregivers (n=4) and another of neuro-oncology professionals (n=5), to review evidence-based cognitive rehabilitation and mindfulness intervention manuals in other medical populations, identify topic applicability, determine medical relevance, and discuss necessary adaptations for patients with brain tumor. Then, a Stage 1a pilot trial was opened to investigate feasibility (rates of screening, eligibility, enrollment) and acceptability (satisfaction and intervention recommendations) of the resultant, newly developed C-SMART manual and research procedures.

RESULTS
Both EABs recommended adaptations to existing cognitive rehabilitation and mindfulness manuals to meet the distinct needs of patients with brain tumor. As a result, C-SMART’s key components include: 1) neurocognitive evaluation to inform the chosen cognitive rehabilitation strategies, 2) tailored goal-setting to each individual, 3) self-compassion training in the face of cognitive slips, 4) neuropsychological education and strategy training with consideration of disease and treatment characteristics, 5) mindfulness practice prior to strategy use, and 6) caregiver participation. To date, 69% of 16 interested individuals were screened (n=11), 82% were eligible (n=9), and, of those, 89% enrolled (n=8), with 75% also enrolling a caregiver (n=6). Currently, 50% are off trial with a completion rate of 80%. Those who have completed C-SMART have found it beneficial (100%) and would recommend to others (100%).

CONCLUSION
C-SMART is the first consensus-supported, individualized, mindfulness-based, cognitive rehabilitation intervention in neuro-oncology. Initial results support feasibility and acceptability of C-SMART for those diagnosed with brain tumors. The current preliminary results encourage the continued optimization and investigation of C-SMART.