Jacopo Falco, Morgan Broggi, Ignazio G Vetrano, Emanuele Rubiu, Marco Schiariti, Francesco Restelli, Elio Mazzapicchi, Giulio Bonomo, Emanuele La Corte, Paolo Ferroli, Francesco Acerbi
OBJECTIVE: Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor, most commonly affecting children and young adults. Surgical resection represents the mainstay of treatment, and extent of resection is associated with improved survival. In this study, we analyzed the role of sodium fluorescein (SF) in improving intraoperative visualization easing resection. METHODS: Surgical database of FLUOCERTUM study (Besta Institute, Milan, Italy) was retrospectively reviewed to find pleomorphic xanthoastrocytomas and anaplastic xanthoastrocytomas, according to WHO-2016/2021 classification, surgically removed by a fluorescein-guided technique from March 2016 to February 2022...
2022: Frontiers in Oncology
Karolina Kata, Juan C Rodriguez-Quintero, Octavio D Arevalo, Jackie J Zhang, Meenakshi Bidwai Bhattacharjee, Cornelius Ware, Antonio Dono, Roy Riascos-Castaneda, Nitin Tandon, Angel Blanco, Yoshua Esquenazi, Leomar Y Ballester, Mark Amsbaugh, Arthur L Day, Jay-Jiguang Zhu
Recurrent and anaplastic pleomorphic xanthoastrocytoma (r&aPXA) is a rare primary brain tumor that is challenging to treat. Two-thirds of PXA tumors harbor a BRAF gene mutation. BRAF inhibitors have been shown to improve tumor control. However, resistance to BRAF inhibition develops in most cases. Concurrent therapy with MEK inhibitors may improve tumor control and patient survival. In this study, we identified 5 patients diagnosed with BRAF-mutated PXA who received BRAF and MEK inhibitors over a 10-year interval at our institution...
November 2022: Journal of the National Comprehensive Cancer Network: JNCCN
Joseph A Carnevale, Cristopher Ramirez-Loera, Jacob L Goldberg, Theodore H Schwartz
No abstract text is available yet for this article.
September 26, 2022: Operative Neurosurgery (Hagerstown, Md.)
Lydia A Leavitt, William Muñoz, Pamela S Jones
BACKGROUND: 5-aminolevulinic acid (5-ALA)-induced fluorescence of neoplastic tissue is known to occur in a number of high-grade gliomas. This fluorescence helps surgeons maximize safe resection by distinguishing previously indiscernible neoplastic tissue from brain parenchyma. Still, the effectiveness of 5-ALA has not been fully explored for all central nervous system tumors. Consequently, the full spectrum of tumors that would benefit from fluorescence-guided surgery using 5-ALA is unknown...
October 3, 2022: J Neurosurg Case Lessons
Misove Adela, Vicha Ales, Broz Petr, Vanova Katerina, Sumerauer David, Stolova Lucie, Sramkova Lucie, Koblizek Miroslav, Zamecnik Josef, Kyncl Martin, Holubova Zuzana, Liby Petr, Taborsky Jakub, Benes Vladimir, Pernikova Ivana, Jones T W David, Sill Martin, Stancokova Terezia, Krskova Lenka, Zapotocky Michal
Gliomas are the most common central nervous tumors in children and adolescents. However, spinal cord low-grade gliomas (sLGGs) are rare, with scarce information on tumor genomics and epigenomics. To define the molecular landscape of sLGGs, we integrated clinical data, histology, and multi-level genetic and epigenetic analyses on a consecutive cohort of 26 pediatric patients. Driver molecular alteration was found in 92% of patients (24/26). A novel variant of KIAA1549:BRAF fusion (ex10:ex9) was identified using RNA-seq in four cases...
September 26, 2022: Acta Neuropathologica Communications
Tian-Fei Luo, Yu-Bo Wang, Dan-Hua Wang, Shuang Zhan, Shuang-Lin Deng
INTRODUCTION: Dandy-Walker complex and pleomorphic xanthoastrocytomas are both rare disease entities that typically manifest early in life and are associated with congenital etiological factors. Dandy-Walker complex is a cerebellar malformation associated with a series of anatomical changes. The disease onset is usually at birth or during infancy. Late onset in adulthood is uncommon. Pleomorphic xanthoastrocytoma is a rare WHO grade II astrocytic tumor affecting mainly young adults. Concomitant occurrence of Dandy-Walker complex and pleomorphic xanthoastrocytoma has not been previously reported...
September 9, 2022: Medicine (Baltimore)
Shu Li, Li-Na Chen, Lin Zhong
BACKGROUND: Brain tumors are the most common solid tumors in children and comprise 25% of all malignancies in children. Common presentations include headache, nausea and vomiting, gait abnormality, papilledema, and epileptic seizure; however, some symptoms can be very insidious, with atypical and misleading manifestations. CASE SUMMARY: Here, we report a 7-year-old boy who presented with recurrent cyanosis and tachypnea after exercise for 2 years. His body mass index was 26...
July 16, 2022: World Journal of Clinical Cases
S Shrot, A Kerpel, J Belenky, M Lurye, C Hoffmann, M Yalon
BACKGROUND AND PURPOSE: BRAF and type 1 neurofibromatosis status are distinctive features in pediatric low-grade gliomas with prognostic and therapeutic implications. We hypothesized that DWI metrics obtained through volumetric ADC histogram analyses of pediatric low-grade gliomas at baseline would enable early detection of BRAF and type 1 neurofibromatosis status. MATERIALS AND METHODS: We retrospectively evaluated 40 pediatric patients with histologically proved pilocytic astrocytoma ( n = 33), ganglioglioma ( n = 4), pleomorphic xanthoastrocytoma ( n = 2), and diffuse astrocytoma grade 2 ( n = 1)...
August 25, 2022: AJNR. American Journal of Neuroradiology
Annekathrin Reinhardt, Kristin Pfister, Daniel Schrimpf, Damian Stichel, Felix Sahm, David E Reuss, David Capper, Annika K Wefers, Azadeh Ebrahimi, Martin Sill, Joerg Felsberg, Guido Reifenberger, Albert Becker, Marco Prinz, Ori Staszewski, Christian Hartmann, Jens Schittenhelm, Dorothee Gramatzki, Michael Weller, Adriana Olar, Elisabeth Jane Rushing, Markus Bergmann, Michael A Farrell, Ingmar Blümcke, Roland Coras, Jan Beckervordersandforth, Se Hoon Kim, Fabio Rogerio, Petia S Dimova, Pitt Niehusmann, Andreas Unterberg, Michael Platten, Stefan M Pfister, Wolfgang Wick, Christel Herold-Mende, Andreas von Deimling
Anaplastic ganglioglioma is a rare tumour and diagnosis has been based on histological criteria. The 5th edition of the World Health Organization Classification of Tumours of the Central Nervous System (CNS WHO) does not list anaplastic ganglioglioma as a distinct diagnosis due to lack of molecular data in previous publications AIM: We retrospectively compiled a cohort of 54 histologically diagnosed anaplastic gangliogliomas to explore whether the molecular profiles of these tumours represent a separate type or resolve into other entities METHODS: Samples were subjected to histological review, DNA methylation profiling and next generation sequencing...
August 17, 2022: Neuropathology and Applied Neurobiology
Beatrice Detti, Silvia Scoccianti, Virginia Maragna, Sara Lucidi, Michele Ganovelli, Maria Ausilia Teriaca, Saverio Caini, Isacco Desideri, Benedetta Agresti, Daniela Greto, Anna Maria Buccoliero, Alessandro Della Puppa, Iacopo Sardi, Lorenzo Livi
BACKGROUND:  Pleomorphic xanthoastrocytoma (PXA) is a rare low-grade brain tumor. To date, limited studies have analyzed factors affecting survival outcomes and defined the therapeutic strategy. The aim of this retrospective analysis was to investigate the clinicopathologic characteristics of PXA and identify factors associated with outcomes. METHODS:  We retrospectively analyzed a cohort of 16 adult and children patients with PXA who underwent primary resection from 1997 to 2019, referred to our Radiation Oncology Unit and to Meyer's Paediatric Hospital...
August 11, 2022: La Radiologia Medica
Valeria Barresi, Michele Simbolo, Chiara Ciaparrone, Serena Pedron, Andrea Mafficini, Aldo Scarpa
AIMS: Pleomorphic xanthoastrocytoma (PXA) is a rare circumscribed glioma, characterized by frequent BRAF p. V600E mutation, and classified as grade 2 or 3. Owing to overlapping clinical-pathological features, the histological distinction from glioblastoma (GBM) with giant cells (GCs) is challenging. Based on the high frequency of TP53 and RB1 alterations in the latter, this study aimed to assess the value of BRAF, p53 and pRB immunostainings in this differential diagnosis. METHODS AND RESULTS: In thirty-seven GBMs with ≥ 30% GCs and in 8 PXAs, we assessed the alterations of 409 cancer-related genes and immunostainings for BRAF, p53 and pRB...
August 9, 2022: Histopathology
Zhiying Lin, Runwei Yang, Haojie Zheng, Zhiyong Li, Guozhong Yi, Qianchao Wu, Chunli Yang, Guanglong Huang
BACKGROUND: Pleomorphic xanthoastrocytoma (PXA), anaplastic pleomorphic xanthoastrocytoma (A-PXA), and epithelioid glioblastoma (E-GBM) show overlapping features. However, little is known about their clinical characteristics, molecular features and relationship with progression. METHODS: Fourteen patients diagnosed at Nanfang Hospital from 2016 to 2019 were enroled, including eleven PXA patients, two A-PXA patients, and one E-GBM patient. All tumour tissue samples of the fourteen patients were examined by immunohistochemical staining (MGMT, VEGF, BRAF-V600E, etc...
July 21, 2022: Clinical Neurology and Neurosurgery
Roberta Rudà, David Capper, Adam D Waldman, Johan Pallud, Giuseppe Minniti, Thomas J Kaley, Eric Bouffet, Ghazaleh Tabatabai, Eleonora Aronica, Asgeir S Jakola, Stefan M Pfister, David Schiff, Andrew B Lassman, David A Solomon, Riccardo Soffietti, Michael Weller, Matthias Preusser, Ahmed Idbaih, Patrick Y Wen, Martin J van den Bent
In the new WHO 2021 Classification of CNS Tumors the chapter "Circumscribed astrocytic gliomas, glioneuronal and neuronal tumors" encompasses several different rare tumor entities, which occur more frequently in children, adolescents and young adults. The Task Force has reviewed the evidence of diagnostic and therapeutic interventions, which is low particularly for adult patients, and draw recommendations accordingly. Tumor diagnosis, based on WHO 2021, is primarily performed using conventional histological techniques; however, molecular workup is important for differential diagnosis, in particular DNA methylation profiling for the definitive classification of histologically unresolved cases...
August 1, 2022: Neuro-oncology
Masatomo Maeda, Masahiro Nonaka, Nobuaki Naito, Katsuya Ueno, Takamasa Kamei, Akio Asai
OBJECTIVE: A case of low-grade glioma in which 5-aminolevulinic acid (5-ALA) fluorescence was visualized by a digital exoscope is presented. CASE PRESENTATION: A 14-year-old girl with recurrent paroxysmal episodes of a strange smell and nausea underwent magnetic resonance imaging (MRI) for further investigation. The MRI showed a tumor with an enhanced nodule in the right temporal lobe. The patient received 5-ALA preoperatively, and intraoperative observation using a 4 K-3-dimension digital exoscope (Olympus ORBEYE) showed that the tumor was fluorescent, which was useful in determining the extent of tumor removal...
July 30, 2022: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimonis
BACKGROUND: Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin-proteasome system that provides protein quality control. VCP-associated inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also termed VCP disease and multisystem proteinopathy (MSP 1), is an autosomal dominant disorder caused by monoallelic variants in the VCP gene on human chromosome 9. VCP has also been strongly involved in cancer, with over-activity of VCP found in several cancers such as prostate, pancreatic, endometrial, esophageal cancers and osteosarcoma...
July 15, 2022: Orphanet Journal of Rare Diseases
Calixto-Hope G Lucas, Christian J Davidson, Mouied Alashari, Angelica R Putnam, Nicholas S Whipple, Carol S Bruggers, Joe S Mendez, Samuel H Cheshier, Jeffrey B Walker, Biswarathan Ramani, Cathryn R Cadwell, Daniel V Sullivan, Rufei Lu, Kanish Mirchia, Jessica Van Ziffle, Patrick Devine, Ezequiel Goldschmidt, Shawn L Hervey-Jumper, Nalin Gupta, Nancy Ann Oberheim Bush, David R Raleigh, Andrew Bollen, Tarik Tihan, Melike Pekmezci, David A Solomon, Joanna J Phillips, Arie Perry
Composite pleomorphic xanthoastrocytoma-ganglioglioma (PXA-GG) is an extremely rare central nervous system neoplasm with 2 distinct but intermingled components. Whether this tumor represents a "collision tumor" of separate neoplasms or a monoclonal neoplasm with divergent evolution is poorly understood. Clinicopathologic studies and capture-based next generation sequencing were performed on extracted DNA from all available PXA-GG at 2 medical centers. Five PXA-GG were diagnosed in 1 male and 4 female patients ranging from 13 to 25 years in age...
June 15, 2022: Journal of Neuropathology and Experimental Neurology
Iman Dandapath, Rahul Gupta, Jyotsna Singh, Nidhi Shukla, Prerana Jha, Vikas Sharma, Ashish Suri, M C Sharma, Vaishali Suri, Chitra Sarkar, Ritu Kulshreshtha
Histological interpretation of the rare pleomorphic xanthoastrocytoma (PXA) has been the holy grail for treatment options. However, no stand-alone clinical interventions have been developed owing to the lack of gene expression profiling data in PXA/APXA patients. We first time report the comprehensive analyses of the coding as well as long non-coding RNA (lncRNA) signatures of PXA/APXA patients. Several genes such as IGFBP2, NF1, FOS, ERBB2, and lncRNAs such as NEAT1, HOTAIRM1, and GAS5 known to play crucial roles in glioma patients were also deregulated in PXA patients suggesting the commonality in the molecular signatures...
August 2022: Molecular Neurobiology
Yusuke Otsu, Yoshihisa Matsumoto, Koichi Higaki, Takuya Furuta, Mayuko Moritsubo, Hidenobu Yoshitake, Yui Nagata, Takuro Hashikawa, Hideki Sakai, Setsuko Nakagawa, Kenji Takahashi, Yasuo Sugita
Gliosarcoma is characterized by the presence of alternating lesions of glial and mesenchymal components. Although many mesenchymal components have been reported, there are few reports on glial components. We here report two cases of gliosarcoma. Case 1 was a 42-year-old woman with right hemiparesis and motor aphasia. Magnetic resonance imaging (MRI) identified a tumor in the left frontal lobe. Pathological analysis of the tumor removal specimen revealed gliosarcoma, with a glial component resembling pleomorphic xanthoastrocytoma...
August 2022: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Edmond Jonathan Gandham, Abhijit Goyal-Honavar, Daniel Beno, Rekha Pai, Rajesh Balakrishan, Anita Jasper, Mahasampath Gowri, Ranjith K Moorthy, Ari George Chacko, Geeta Chacko
BACKGROUND: The prevalence of BRAFV600E mutations in pleomorphic xanthoastrocytoma (PXA) World Health Organization (WHO) Grade 2 and PXA WHO Grade 3 reported varies from 60% to 80%, yet the prognostic implications remain unclear. METHODS: We reviewed the demographic and clinicoradiologic data of 20 PXAs WHO Grade 2 and 13 PXAs WHO Grade 3, operated between 2007 and 2020, to ascertain extent of excision, recurrence, progression-free survival (PFS), and overall survival (OS)...
August 2022: World Neurosurgery
Melek Ahmed, Mania De Praeter, Joris Verlooy, An-Sofie Schoonjans, Sven Dekeyzer, Stephanie Vanden Bossche, Martin Lammens, Patrick Pauwels
No abstract text is available yet for this article.
May 16, 2022: Clinical Neuropathology
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