Sara B Hobday, Leila J Mady, Alec M Jacobson, Christopher H Rassekh
{"title":"CIC-DUX4 Sarcoma Involving the Skull Base: A Rare Presentation and Review of the Literature.","authors":"Sara B Hobday, Leila J Mady, Alec M Jacobson, Christopher H Rassekh","doi":"10.1055/a-2166-5688","DOIUrl":"10.1055/a-2166-5688","url":null,"abstract":"<p><p><b>Background</b> CIC-DUX4 sarcoma is a rare, aggressive tumor that is difficult to diagnose. Although it is closely related to Ewing's sarcoma, each is a distinct pathologic entity and both have been previously reported in the skin, lymph nodes, and viscera. We report the first description of CIC-DUX4 involving the posterior cranial fossa and review the distinctive symptomatology, morphology, immunoprofile, and genetic signature that differentiate this rare tumor. <b>Case Report</b> A 32-year-old man presented with an enlarging right lateral neck mass, progressive hoarseness, and orofacial pain. Biopsy revealed a high-grade undifferentiated malignant neoplasm. Imaging demonstrated an 8-cm mass in the right neck extending to the skull base and abutting the carotid sheath, in addition to pulmonary nodules and pelvic lymphadenopathy. Despite initial response to chemotherapy, he experienced disease progression and underwent surgical resection, radical neck dissection, and brachytherapy. Definitive pathologic diagnosis was achieved with next-generation sequencing. Within weeks of treatment, he developed symptoms reflecting progression of disease involving the neck, posterior cranial fossa, and lung. Adjuvant chemotherapy was planned, but the patient succumbed to his disease prior to initiation of further therapy. <b>Conclusion</b> CIC-DUX4 sarcomas are uncommon and can progress rapidly. Diagnosis requires either fluorescence in situ hybridization or next-generation sequencing. Due to its rarity, there is no standard-of-care treatment for this tumor and further investigations are needed to understand disease behavior and develop targeted therapeutic modalities.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 4","pages":"e124-e128"},"PeriodicalIF":0.5,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/62/73/10-1055-a-2166-5688.PMC10575739.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41239697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nikitha Kosaraju, Huan Zhang, Sharon Qi, Robert Chin, Marilene B Wang
{"title":"Anterior Skull Base Osteoradionecrosis in the Age of Intensity-Modulated Radiation Therapy: A Case Series.","authors":"Nikitha Kosaraju, Huan Zhang, Sharon Qi, Robert Chin, Marilene B Wang","doi":"10.1055/a-2164-8637","DOIUrl":"https://doi.org/10.1055/a-2164-8637","url":null,"abstract":"<p><p><b>Background</b> Despites advances in radiation technology, skull base osteoradionecrosis (ORN) continues to be a rare, devastating, and hard to treat complication of radiotherapy. We present three cases of anterior skull base ORN in a cohort treated with intensity-modulated radiation therapy (IMRT). <b>Case Series</b> Three patients developed anterior skull base ORN after receiving at least one round of IMRT. ORN was diagnosed through either nasal endoscopy or imaging findings. The first was a 59-year-old woman with a sinonasal squamous cell carcinoma. Her chemoradiation history was notable for reirradiation and a high dose of radiation (143.3 Gy). The second was a 55-year-old man with recurrent nasopharyngeal carcinoma, whose history was notable for a high dose of radiation (∼140 Gy) and for being reirradiated. The final patient was a 37-year-old woman with an unremarkable history who received radiotherapy (65.0 Gy) for an esthesioneuroblastoma. One patient was asymptomatic and did not receive ORN-specific therapy. The other two were treated with a combination of medical and surgical intervention with successful short-term outcomes (no evidence of infection). <b>Conclusion</b> Anterior skull base ORN can be treated through conservative and surgical means to achieve successful short-term outcomes. Further investigation of long-term outcomes is warranted.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e109-e112"},"PeriodicalIF":0.5,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cc/ba/10-1055-a-2164-8637.PMC10533358.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Primary Intraosseous Meningioma: A Rare Case of Malignancy with High Proliferative Ability.","authors":"Yoshiki Sato, Koichi Mitsuya, Yuko Kakuda, Takuma Oishi, Shoichi Deguchi, Takashi Sugino, Yasuto Akiyama, Takeshi Nagashima, Kenichi Urakami, Yuji Shimoda, Keiichi Ohshima, Nakamasa Hayashi, Ken Yamaguchi","doi":"10.1055/a-2161-7710","DOIUrl":"10.1055/a-2161-7710","url":null,"abstract":"<p><p>Primary intraosseous meningioma (PIM) is a rare tumor that arises in the skull. Histopathologically, it is generally described as a slow-growing, benign lesion. However, on rare occasions, PIM presents as a malignancy with high proliferative ability, which requires maximal resection, adjuvant radiotherapy, and subsequent careful follow-up. Because of the rarity of such cases, they present a diagnostic challenge with unusual pathological findings. Herein, we report a case of a primary intraosseous anaplastic meningioma with extensive invasion inside and outside the skull, along with the results of whole-genome analysis. Histopathological diagnosis was a World Health Organization grade 3 anaplastic meningioma. In the literature, only two cases of anaplastic PIM have been reported, so its characteristics and treatment are poorly understood. Our patient was successfully treated with tumor resection, followed by intensity-modulated radiation therapy. Follow-up imaging studies revealed no recurrence or distant metastasis, including to lung, liver, and bone, at 8 months after the surgery.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 1","pages":"e103-e108"},"PeriodicalIF":0.5,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43550925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Somtochi Okafor, Jameel Muzaffar, David Jang, Ivan El Sayed, Ralph Abi Hachem
{"title":"Nasopharyngeal Carcinoma: Case Presentation and Literature Review of Treatment Innovation with Immunotherapy.","authors":"Somtochi Okafor, Jameel Muzaffar, David Jang, Ivan El Sayed, Ralph Abi Hachem","doi":"10.1055/s-0043-1774333","DOIUrl":"10.1055/s-0043-1774333","url":null,"abstract":"<p><p>Nasopharyngeal carcinoma (NPC), a rare head and neck malignancy, arises from the epithelial lining of nasopharyngeal mucosa. The confluence of various risk factors, such as latent Epstein-Barr virus infection, genetic susceptibility, smoking, alcohol consumption, and high nitrosamine diet, is thought to contribute to NPC pathogenesis. Radiation therapy serves as the mainstay of treatment for early stage while concurrent chemotherapy and radiation are the basis of treatment for locoregional advanced disease with overall 80% five-year survival rate. Recurrent or metastatic disease pose treatment challenges as reirradiation, repeat cycles of chemotherapy, and surgery follow with high likelihood of treatment toxicity or postoperative morbidities. Typically reserved for nonresectable recurrent or metastatic disease, immunotherapy serves as novel treatment for NPC. NPC tumor microenvironment predominated by a dense infiltrate of immune cells hosts an ideal target for immunotherapy. Several clinical trials have investigated the efficacy of anti-programmed cell death protein 1 antibodies such as pembrolizumab, nivolumab, and camrelizumab with promising results. Treatment of recurrent and metastatic NPC remains a challenge; however, the advent of immunotherapy has provided additional options and potential for preventative and therapeutic measures.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e113-e115"},"PeriodicalIF":0.5,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41169006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Natasha L Frontera, Julio Rosado-Philippi, Francisco Del Valle Díaz, Alejandra Santiago Díaz, Adriana Vázquez Medina, Arnaldo Figueroa, Natalia González, Gustavo Pradilla, Tomas Garzón, Julio Rodríguez, Luisam Tarrats, Miguel Mayol Del Valle
{"title":"TransOrbital NeuroEndoscopic Surgery for Biopsy of the Left Cavernous Sinus: A Literature Review, Case Report, and Cadaveric Proof of Concept.","authors":"Natasha L Frontera, Julio Rosado-Philippi, Francisco Del Valle Díaz, Alejandra Santiago Díaz, Adriana Vázquez Medina, Arnaldo Figueroa, Natalia González, Gustavo Pradilla, Tomas Garzón, Julio Rodríguez, Luisam Tarrats, Miguel Mayol Del Valle","doi":"10.1055/a-2155-2419","DOIUrl":"https://doi.org/10.1055/a-2155-2419","url":null,"abstract":"<p><p>The aim of this report is to describe TransOrbital NeuroEndoscopic Surgery (TONES) as a safe alternative for obtaining a cavernous sinus (CS) biopsy. We describe this technique in a patient with a diffuse large B cell lymphoma mimicking Tolosa-Hunt's syndrome. Articles were gathered querying PubMed, Embase, and Scopus databases with terms related to a \"transorbital neuroendoscopic approach.\" The literature search was performed by two independent authors (N.L.F. and J.R.), with inconsistencies resolved by the senior author (M.M.D.V.). After screening abstracts for relevance, full-length articles were reviewed for pertinent variables. A comparison was conducted with the illustrative case of a 69-year-old woman who presented to the emergency department with vertigo, ophthalmoplegia, and diplopia for 2 months. A brain magnetic resonance imaging revealed an infiltrative lesion at the left CS. A presumptive diagnosis of Tolosa-Hunt syndrome was made, but a confirmatory biopsy was performed using TONES. Based on our cadaveric study, literature review, and case report, the TONES approach was safe, effective for tissue diagnosis, and associated with minor morbidity and reduced hospital stay. Additional prospective studies are required to study its viability and safety in a larger group of patients.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e116-e123"},"PeriodicalIF":0.5,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/57/23/10-1055-a-2155-2419.PMC10533359.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41172367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. Dang, Andrew Gong, John V. Dang, Luke A. Mugge, Seth Mansinghani, Mateo Ziu, Adam L. Cohen, Nilesh Vyas
{"title":"Systematic review of WHO grade 4 astrocytoma in the cerebellopontine angle: the impact of anatomic corridor on treatment options and outcomes","authors":"D. Dang, Andrew Gong, John V. Dang, Luke A. Mugge, Seth Mansinghani, Mateo Ziu, Adam L. Cohen, Nilesh Vyas","doi":"10.1055/a-2172-7770","DOIUrl":"https://doi.org/10.1055/a-2172-7770","url":null,"abstract":"Background: Despite advances in multimodal oncologic therapies and molecular genetics, overall survival (OS) for high-grade astrocytomas remains poor. We present an illustrative case and systematic review of rare, predominantly extra-axial WHO grade 4 astrocytomas located within the cerebellopontine angle (CPA) and explore the impact of anatomic location on diagnosis, management, and outcomes.\u0000\u0000Methods: A systematic review of adult patients with predominantly extra-axial WHO grade 4 CPA astrocytomas was conducted following the PRISMA guidelines through December 2022. \u0000\u0000Results: 18 articles were included comprising 21 astrocytomas: 13 exophytic tumors arising from cerebellopontine parenchyma, and 8 tumors originating from a cranial nerve root entry zone. Median OS was 15 months with one-third of cases demonstrating delayed diagnosis. Gross total resection, molecular genetic profiling, and use of ancillary treatment were low. We report the only patient with an integrated IDH-1 mutant diagnosis, who, after subtotal resection and chemoradiation, remains alive at 40 months without progression.\u0000\u0000Conclusion: The deep conical-shaped corridor and abundance of eloquent tissue of the CPA significantly limits both surgical resection and utility of device-based therapies in this region. Prompt diagnosis, molecular characterization, and systemic therapeutic advances serve as the predominant means to optimize survival for patients with rare skull base astrocytomas.","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"1 1","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43432640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Robert G Power, Fred C Lam, Anthony C Whitton, Sunjay Sharma, Ekkehard M Kasper
{"title":"Surgical Management of Meningiomas Involving the Torcula, Transverse Sinus, and Jugular Bulb: A Technical Note and Review of the Literature.","authors":"Robert G Power, Fred C Lam, Anthony C Whitton, Sunjay Sharma, Ekkehard M Kasper","doi":"10.1055/s-0043-1772201","DOIUrl":"10.1055/s-0043-1772201","url":null,"abstract":"<p><p>Meningiomas that invade the confluens sinuum are rare and require extensive preoperative planning. Here, we describe the surgical and radio-oncological management of an aggressive large occipital meningioma invading the superior sagittal sinus, torcula, right and left transverse sinus down to the level of the jugular bulb in a 21-year-old female patient. Details of the surgical approach are presented to highlight the planned staged resection of this tumor at the level of the torcula to initially debulk the lesion while preserving venous outflow through the patent's sinus. Once the tumor fully occluded the confluens, a second-stage en bloc resection ensued. Postsurgical adjuvant radiation therapy was delivered via fractionated external beam therapy which has provided local control of the tumor since. This case is being discussed in the context of the pertinent literature to demonstrate the highly complex interdisciplinary and staged management of partially intravascular meningiomas involving the major venous sinuses.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e92-e102"},"PeriodicalIF":0.6,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/e2/10-1055-s-0043-1772201.PMC10457152.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10107814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Somtochi I Okafor, Jameel Muzaffar, David Jang, Ivan H El-Sayed, Ralph Abi Hachem
{"title":"Nasopharyngeal Carcinoma: Case Presentation and Literature Review of Treatment Innovation with Immunotherapy","authors":"Somtochi I Okafor, Jameel Muzaffar, David Jang, Ivan H El-Sayed, Ralph Abi Hachem","doi":"10.1055/a-2148-2429","DOIUrl":"https://doi.org/10.1055/a-2148-2429","url":null,"abstract":"Abstract Nasopharyngeal carcinoma (NPC), a rare head and neck malignancy, arises from the epithelial lining of nasopharyngeal mucosa. The confluence of various risk factors, such as latent Epstein–Barr virus infection, genetic susceptibility, smoking, alcohol consumption, and high nitrosamine diet, is thought to contribute to NPC pathogenesis. Radiation therapy serves as the mainstay of treatment for early stage while concurrent chemotherapy and radiation are the basis of treatment for locoregional advanced disease with overall 80% five-year survival rate. Recurrent or metastatic disease pose treatment challenges as reirradiation, repeat cycles of chemotherapy, and surgery follow with high likelihood of treatment toxicity or postoperative morbidities. Typically reserved for nonresectable recurrent or metastatic disease, immunotherapy serves as novel treatment for NPC. NPC tumor microenvironment predominated by a dense infiltrate of immune cells hosts an ideal target for immunotherapy. Several clinical trials have investigated the efficacy of anti-programmed cell death protein 1 antibodies such as pembrolizumab, nivolumab, and camrelizumab with promising results. Treatment of recurrent and metastatic NPC remains a challenge; however, the advent of immunotherapy has provided additional options and potential for preventative and therapeutic measures.","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135712048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abigail Funari, Seth S Jeong, Isabella L Pecorari, Isabella Flaquer, Cassidy L Anderson, Vijay Agarwal
{"title":"Infarctive Apoplexy of Previously Healthy Pituitary Glands: A Small Case Series and Literature Review.","authors":"Abigail Funari, Seth S Jeong, Isabella L Pecorari, Isabella Flaquer, Cassidy L Anderson, Vijay Agarwal","doi":"10.1055/s-0043-1770788","DOIUrl":"https://doi.org/10.1055/s-0043-1770788","url":null,"abstract":"<p><p><b>Introduction</b> We present two cases of suspected pituitary apoplexy found instead to be infarcted pituitary glands without histopathologic evidence of neoplastic cells, likely resulting from spontaneous infarction of previously healthy pituitary glands. <b>Case Presentations</b> The first case is a 55-year-old man who presented with a pulsating headache, nausea, and several months of decreased libido, polyuria, and polydipsia. Magnetic resonance imaging (MRI) revealed a rim-enhancing sellar/suprasellar mass with evidence of recent hemorrhage on the right. Testosterone, follicle-stimulating hormone, and luteinizing hormone levels were suppressed. Analysis of the resected specimen showed fibrocollagenous tissue with evidence of old hemorrhage and microscopic focus of necrotic tissue. The second case is a 56-year-old man who presented with a throbbing headache, associated nausea, and 6 weeks of polyuria and polydipsia. Testosterone levels were found to be low, and 8-hour water deprivation test showed evidence for partial diabetes insipidus. MRI revealed a mass on the right side of the pituitary gland, with evidence of likely hemorrhage on the left. Analysis of the resected specimen showed necrotic tissue without neoplastic cells. <b>Conclusion</b> When evaluating small pituitary lesions in patients presenting with indolent onset of pituitary insufficiency, there should be a high degree of suspicion for an infarcted pituitary gland.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e71-e79"},"PeriodicalIF":0.5,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2e/67/10-1055-s-0043-1770788.PMC10365896.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9875701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Esthesioneuroblastoma: Management of the N0 neck.","authors":"Stephanie J Youssef, Nyssa Fox Farrell","doi":"10.1055/s-0043-1770965","DOIUrl":"https://doi.org/10.1055/s-0043-1770965","url":null,"abstract":"<p><p>Esthesioneuroblastoma is a rare sinonasal malignancy that arises from the olfactory epithelium. The overall incidence of lymph node metastases is 25%. However, neck disease can present in a delayed fashion. As such, management of the clinically negative neck is controversial, with some advocating for elective neck treatment and others recommending observation with salvage treatment if necessary. At this time, no prospective head-to-head comparisons of elective versus salvage treatment have been performed.</p>","PeriodicalId":44256,"journal":{"name":"Journal of Neurological Surgery Reports","volume":"84 3","pages":"e85-e86"},"PeriodicalIF":0.5,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/0f/10-1055-s-0043-1770965.PMC10411164.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9969670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}