Article
Oncology
Takeshi Fujita, Kazuko Sakai, Natsumi Uehara, Yujiro Hoshi, Anjin Mori, Hajime Koyama, Mitsuo Sato, Kazuya Saito, Yasuhiro Osaki, Kazuto Nishio, Katsumi Doi
Summary: Vestibular schwannoma (VS) is the most common tumor of the cerebellopontine angle. The use of traditional microsurgeries to treat VS has decreased, possibly due to the adoption of serial imaging as the initial evaluation and treatment strategy. The study identified NF2 as the most frequently mutated gene in small sporadic VS.
Article
Chemistry, Medicinal
Gianluca Tedaldi, Chiara Molinari, Celina Sao Jose, Rita Barbosa-Matos, Ana Andre, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Luca Saragoni, Paolo Morgagni, Francesca Rebuzzi, Matteo Canale, Sara Pignatta, Elisa Ferracci, Giovanni Martinelli, Guglielmina Nadia Ranzani, Carla Oliveira, Daniele Calistri, Paola Ulivi
Summary: This study aimed to elucidate the role of genetic variants and DNA methylation of CDH1 promoter and enhancers in the regulation of gene expression in gastric cancer. The results showed that alterations in terms of genetic variants and DNA methylation patterns of both promoter and enhancers are associated with CDH1 expression levels and have a role in its regulation. The study revealed different methylation patterns in patients and controls, GC cell lines and GC tissues, expressing different E-cadherin levels.
Article
Clinical Neurology
Katherine Sadler, John Bowes, Charlie F. Rowlands, Cristina Perez-Becerril, C. Mwee van der Meer, Andrew T. King, Scott A. Rutherford, Omar N. Pathmanaban, Charlotte Hammerbeck-Ward, Simon K. W. Lloyd, Simon R. Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D. Gareth Evans, Miriam J. Smith
Summary: A genome-wide association study revealed that rs1556516 in the 9p21.3 region is associated with the risk of vestibular schwannoma. The dysregulation of CDKN2B-AS1 and CDKN2A/B genes in this region has been linked to multiple pathologies, and these genes have been shown to influence each other's expression. The recurrent associations of the 9p21.3 region with known oncogenic pathways provide compelling evidence for its involvement in vestibular schwannoma tumorigenesis.
Article
Radiology, Nuclear Medicine & Medical Imaging
Kathleen R. Fink, Sarah E. Nobles, Daniel M. Zeitler
Summary: This study compared the precision and reproducibility of three different radiographic measurement techniques for assessing vestibular schwannoma (VS) tumor size. The results showed that the semi-automated segmented volumetric analysis was more precise, especially for larger tumors, compared to linear measurement or orthogonal volumetric analysis. Tumor volume and volume change over time using segmented volumetric analysis may be more sensitive in surveilling vestibular schwannomas than current measurement techniques.
ACADEMIC RADIOLOGY
(2022)
Review
Oncology
Jinlu Gan, Yanling Zhang, Jingnan Wu, Deqiang Lei, Fangcheng Zhang, Hongyang Zhao, Lei Wang
Summary: Hearing loss is a common initial symptom in patients with sporadic vestibular schwannomas (SVS), and the underlying mechanism remains unclear. Studies have investigated various factors contributing to hearing impairment in SVS, including tumor growth pattern, cochlear dysfunction, impairment of auditory pathway and cortex, and genetic and molecular changes. Further research is needed to explore and deepen the understanding of this multifactorial hypothesis.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Maria Breun, Katharina Flock, Jonas Feldheim, Anja Nattmann, Camelia M. Monoranu, Pia Herrmann, Ralf-Ingo Ernestus, Mario Loehr, Carsten Hagemann, Ulrike Stein
Summary: This study investigated the involvement of MACC1 in the pathogenesis of VS. MACC1 mRNA and protein expression levels were analyzed by quantitative PCR and immunohistochemistry. The results showed that MACC1 mRNA expression was significantly higher in sporadic VS compared to NF2-associated VS, while the latter expressed similar MACC1 levels as healthy vestibular nerves. Recurrent tumors exhibited similar MACC1 expression to primary tumors. Furthermore, MACC1 mRNA expression was significantly correlated with deafness in sporadic VS patients. Therefore, MACC1 might be a new molecular marker involved in VS pathogenesis.
Article
Otorhinolaryngology
Daniel E. Killeen, John P. Marinelli, Christine M. Lohse, Katherine A. Lees, Michael J. Link, Matthew L. Carlson, Jacob B. Hunter
Summary: This study assessed the correlation between linear and volumetric changes in vestibular schwannomas (VS). Retrospective imaging review showed that changes in diameter were significantly correlated with changes in volume for both internal auditory canal (IAC) and cerebellopontine angle (CPA) tumors. However, diameter changes that did not meet the definition of linear growth (<2 mm) had corresponding median volume changes in excess of 20% for both IAC and CPA tumors.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Review
Neurosciences
Sanjeev Kumar, Debabrata Sahana, Anirudh Nair, Lavlesh Rathore, Rajiv K. Sahu, Amit Jain, Praveen Borde, Manish Tawari, Satya Narayan Madhariya, Suresh Nair
Summary: This review provides an overview of available hearing rehabilitation modalities and highlights the importance of hearing rehabilitation following treatment for vestibular schwannoma.
Article
Pediatrics
Julian Zipfel, Mykola Gorbachuk, Isabel Gugel, Marcos Tatagiba, Martin U. Schuhmann
Summary: This study reports the clinical features and surgical outcomes of sporadic vestibular schwannomas in children. Sporadic vestibular schwannomas in children are rare and exhibit high clinical variability in symptoms and tumor characteristics. Surgical resection is the primary treatment method, which shows favorable results with no recurrence.
Article
Clinical Neurology
Aril Loge Havik, Ove Bruland, Hrvoje Miletic, Lars Poulsgaard, David Scheie, Kare Fugleholm, Morten Lund-Johansen, Per-Morten Knappskog
Summary: The genome of VN-MPNST in this study is characterized by large copy-number aberrations and homozygous deletion of CDKN2A. A vestibular schwannoma with genetic alterations resembling its malignant counterpart suggests the presence of premalignant VS. No consistent mutational signature was associated with ionizing radiation.
ACTA NEUROCHIRURGICA
(2022)
Review
Immunology
Javier Rodriguez-Ubreva, Celia L. Calvillo, Lisa R. Forbes Satter, Esteban Ballestar
Summary: This article discusses inborn errors of immunity (IEIs) with mutations in transcription factors that interact with epigenetic enzymes. Epigenetic alterations can occur through the activation of cellular pathways and genetic-associated changes, affecting epigenetic enzymes or their interactors, along with genetic defects, as the etiology of the disease. This study provides insights into the genetic and epigenetic mechanisms in IEIs.
TRENDS IN IMMUNOLOGY
(2023)
Article
Orthopedics
Katsumi Harimaya, Yoshihiro Matsumoto, Kenichi Kawaguchi, Seiji Okada, Hirokazu Saiwai, Akinobu Matsushita, Keiichiro Iida, Hiromi Kumamaru, Takeyuki Saito, Yasuharu Nakashima
Summary: This study described and reviewed the clinical and radiological features and management of patients with multiple spinal schwannomas without vestibular schwannomas. Surgical treatment was safe and effective in relieving symptoms and achieving neurological recovery. Follow-up magnetic resonance imaging is recommended to monitor for asymptomatic or new tumors.
JOURNAL OF ORTHOPAEDIC SCIENCE
(2022)
Article
Dermatology
A. Plana-Pla, B. Garcia, M. Munera-Campos, N. Catasus, E. Serra Arenas, I Blanco, E. Castellanos Perez, I Bielsa
Summary: This study characterized cutaneous lesions in a Spanish cohort of patients with NF2 and investigated associations with clinical and genetic severity. The findings showed that cutaneous lesions, especially plexiform schwannomas, are common in NF2 and usually appear at an early age, providing useful diagnostic and prognostic information.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Review
Oncology
Abdullah Egiz, Hritik Nautiyal, Andrew F. Alalade, Nihal Gurusinghe, Gareth Roberts
Summary: This study examined the growth rate of residual vestibular schwannomas (VS) following incomplete resection (IR) and found that only the residual tumor volume/size was associated with regrowth. Close postoperative surveillance and extended follow-up protocols are crucial for timely intervention. Future research should focus on molecular and histological characteristics of residual VS to enhance prognostic understanding of their growth.
JOURNAL OF NEURO-ONCOLOGY
(2022)
Article
Clinical Neurology
Yoshiaki Ota, Eric Liao, Aristides A. Capizzano, Akira Baba, Ryo Kurokawa, Mariko Kurokawa, Ashok Srinivasan
Summary: The utility of DSC-MRI and DWI in discriminating infratentorial extra-axial schwannomas from paragangliomas and NF2-related schwannomas is demonstrated in this study.
JOURNAL OF NEUROIMAGING
(2022)