Article
Genetics & Heredity
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans
Summary: The study aims to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. The updated criteria include clinical features and genetic testing, emphasizing the phenotypic overlap between the two conditions.
GENETICS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee
Summary: Familial schwannomatosis patients can present with different clinical features in generalized and segmental phenotypes despite sharing the same SMARCB1 gene mutation. Researchers suggest considering the impact of genetic mutations on phenotypic progression and severity in the diagnosis of familial schwannomatosis.
MEDICINA-LITHUANIA
(2022)
Review
Clinical Neurology
Sarra M. Belakhoua, Fausto J. Rodriguez
Summary: This review discusses the classification, diagnosis, and pathological features of peripheral nerve sheath tumors, covering a range from benign to highly malignant tumors, and also discusses the association of these tumors with specific genetic and familial syndromes. In addition, updates in molecular biology research in this field are also introduced.
Article
Medical Laboratory Technology
Yu Li, Lulu Chen, Dongqi Shao, Binbin Zhang, Shan Xie, Xialin Zheng, Zhiquan Jiang
Summary: In this report, a rare case of familial intraluminal schwannomatosis was described, and gene testing revealed a splice mutation in the SMARCB1 gene.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Medicine, Research & Experimental
Manu Shrivastava, Beatrice Emmanouil, Rajeev Mathew, Dorothy Halliday, Allyson Parry, Jane Halliday, Samuel Mackeith
Summary: This study retrospectively analyzed the long-term control rates and hearing outcomes of NF2-related growing vestibular schwannoma patients treated with SRS/FRT. The results showed that SRS/FRT had a good efficacy in tumor control and treatment control, and could preserve hearing in some patients.
Article
Genetics & Heredity
Arkadiusz Piotrowski, Magdalena Koczkowska, Andrzej B. Poplawski, Rafal Bartoszewski, Jaroslaw Kroliczewski, Alina Mieczkowska, Alicia Gomes, Michael R. Crowley, David K. Crossman, Yunjia Chen, Ping Lao, Eduard Serra, Meritxell C. Llach, Elisabeth Castellanos, Ludwine M. Messiaen
Summary: Constitutional pathogenic variants in genes LZTR1 or SMARCB1 were identified in a high percentage of familial and sporadic schwannomatosis cases, with additional novel variants and potential predisposing candidate genes revealed through extensive sequencing.
Article
Oncology
Scott R. Plotkin, Jeffrey Allen, Girish Dhall, Jian L. Campian, D. Wade Clapp, Michael J. Fisher, Rakesh K. Jain, James Tonsgard, Nicole J. Ullrich, Coretta Thomas, Lloyd J. Edwards, Bruce Korf, Roger Packer, Matthias A. Karajannis, Jaishri O. Blakeley
Summary: In this prospective multicenter phase II study, the efficacy, safety, and tolerability of bevacizumab for maintenance therapy in persons with NF2-SWN and hearing loss due to VS were evaluated. The results showed that maintenance bevacizumab (5 mg/kg every 3 weeks) was associated with high rates of hearing and tumor stability during 18 months of follow-up. No new unexpected adverse events related to bevacizumab were identified in this population.
Review
Oncology
Anja Harder
Summary: MEK 1/2 inhibitors (MEKi) have shown potential in reducing the volume of low grade gliomas and plexiform neurofibromas in NF1, and research targeting other high morbidity lesions in NF1 also shows promise. Moreover, MEKi are used in combination therapies due to involvement of multiple pathways in NF2 associated lesions and malignant tumors.
BIOMARKER RESEARCH
(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
Oncology
Serena Ammendola, Michele Simbolo, Chiara Ciaparrone, Paola Chiara Rizzo, Maria Caffo, Giampietro Pinna, Francesco Sala, Aldo Scarpa, Valeria Barresi
Summary: Intraventricular meningiomas are rare brain tumors with potentially life-threatening complications during surgical resection. This study characterizes the molecular profile of these tumors and identifies NF2 mutation as a recurring alteration. These findings provide potential therapeutic targets for the treatment of these tumors.
Article
Hematology
Le Yin, Sisi Xie, Yi Chen, Wang Li, Xian Jiang, Heng Li, Ji Li, Zefang Wu, Xiang Xiao, Guangsen Zhang, Zhao Cheng, Hongling Peng
Summary: The study examined a family with familial myeloproliferative neoplasms, identifying a novel genetic susceptibility gene, KMT2A G3131S, which could potentially increase myeloproliferation. The mutation was found in four family members and not in healthy donors, indicating its significance in familial MPN. Further functional analysis showed that the mutation led to increased cell proliferation and decreased expression of important genes like C-MYB. The findings suggest that KMT2A G3131S may play a role in the development of familial MPN.
ANNALS OF HEMATOLOGY
(2021)
Article
Genetics & Heredity
Dorothy Halliday, Beatrice Emmanouil, D. Gareth R. Evans
Summary: This updated protocol for the management of NF2-related schwannomatosis in the English population provides estimated risks of having an affected child and guidelines for individuals at risk or with potential disease. The protocol reflects lower transmission risks due to improved genetic testing methods and proposes screening for features of the condition until the risk falls below a pragmatic threshold of 1%, allowing for earlier reassurance and discharge for those at risk.
Review
Genetics & Heredity
Daniel M. Fountain, Tatjana Sauka-Spengler
Summary: The neural crest cell population has the potential to differentiate into various structures, such as craniofacial skeleton, skin pigmentation, and peripheral nervous system. The BAF and PBAF complexes, paralogs of the SWI/SNF chromatin-remodeling complexes, play critical roles in neural crest specification during mammalian development. Pathogenic variants in components of these complexes have been found to be involved in the pathogenesis of neural crest-derived tumors. In mouse models, early pathogenic variants in Smarcb1 lead to aggressive and poorly differentiated tumors, while later in development, additional pathogenic variants in tumor suppressor genes are required for the development of differentiated adult neoplasms derived from the neural crest.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
(2023)
Review
Clinical Neurology
Cedric Schraepen, Peter Donkersloot, Wim Duyvendak, Mark Plazier, Eric Put, Gert Roosen, Steven Vanvolsem, Maarten Wissels, Sven Bamps
Summary: Schwannomatosis is a relatively rare disorder related to neurofibromatosis type 2. The main symptom is pain affecting the spine and peripheral nerves. Diagnosis relies on genetic testing and MRI scans. Treatment options include conservative management and surgery.
BRITISH JOURNAL OF NEUROSURGERY
(2022)
Article
Oncology
Cristina Andres-Zayas, Julia Suarez-Gonzalez, Maria Chicano-Lavilla, Mariana Bastos Oreiro, Gabriela Rodriguez-Macias, Patricia Font Lopez, Santiago Osorio Prendes, Gillen Oarbeascoa Royuela, Patricia Garcia Ramirez, Rocio Nieves Salgado, Ignacio Gomez-Centurion, Diego Carbonell Munoz, Paula Muniz, Mi Kwon, Jose Luis Diez-Martin, Ismael Buno, Carolina Martinez-Laperche
Summary: The study aimed to analyze the genomic characterization of sixteen patients with a strong family or personal onco-hematological history through whole-exome sequencing. Pathogenic or likely pathogenic germline variants were detected in four out of the six families studied, while three P/LP germline variants in genes potentially involved in cancer development were found in the remaining four individuals. Novel candidate genes (NFATC2 and TC2N) potentially related to germline syndromes were identified using next-generation sequencing strategies.
Article
Oncology
Yoshitaka Narita, Motoo Nagane, Kazuhiko Mishima, Yasuhito Terui, Yoshiki Arakawa, Hajime Yonezawa, Katsunori Asai, Noriko Fukuhara, Kazuhiko Sugiyama, Naoki Shinojima, Junsaku Kitagawa, Arata Aoi, Ryo Nishikawa
Summary: The study evaluated the safety, tolerability, efficacy, and pharmacokinetics of tirabrutinib in patients with relapsed/refractory PCNSL. Results showed favorable efficacy with a 64% overall response rate and no dose-limiting toxicities observed. Differences in response rates and progression-free survival were noted among the different dosages used.
Article
Genetics & Heredity
Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu Yamaguchi, Masahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Neuroimaging
Katsunori Asai, Hajime Nakamura, Yoshiyuki Watanabe, Takeo Nishida, Mio Sakai, Atsuko Arisawa, Masatoshi Takagaki, Hideyuki Arita, Tomohiko Ozaki, Naoki Kagawa, Yasunori Fujimoto, Katsuyuki Nakanishi, Manabu Kinoshita, Haruhiko Kishima
Summary: In preoperative embolization for intracranial meningioma, endovascular intratumoral embolization was found to be more effective in reducing tumor blood flow compared to proximal feeder occlusion, as assessed by DSC-PWI. The type of embolic material used did not significantly affect the reduction in tumor blood volume.
JOURNAL OF NEUROINTERVENTIONAL SURGERY
(2021)
Article
Oncology
Manabu Kinoshita, Masato Uchikoshi, Souichiro Tateishi, Shohei Miyazaki, Mio Sakai, Tomohiko Ozaki, Katsunori Asai, Yuya Fujita, Takahiro Matsuhashi, Yonehiro Kanemura, Eku Shimosegawa, Jun Hatazawa, Shin-ichi Nakatsuka, Haruhiko Kishima, Katsuyuki Nakanishi
Summary: The study investigated the correlation between quantitative magnetic resonance relaxometry and glioma tumor load, aiming to visualize non-contrast-enhancing tumors. Results showed that a T1 relaxation time range of 1850-3200 ms significantly indicated higher TCD, while T2 relaxation time and ADC did not correlate significantly with TCD. Additionally, synthetic tumor load images from T1 and T2 relaxation maps were able to visualize MET uptake on PET.
Meeting Abstract
Hematology
Yasuhito Terui, Yoshitaka Narita, Motoo Nagane, Kazuhiko Mishima, Yoshiki Arakawa, Hajime Yonezawa, Katsunori Asai, Noriko Fukuhara, Kazuhiko Sugiyama, Naoki Shinojima, Arata Aoi, Ryo Nishikawa
Article
Oncology
Yoshitaka Narita, Yoshihiro Muragaki, Naoki Kagawa, Katsunori Asai, Motoo Nagane, Masahide Matsuda, Keisuke Ueki, Junichiro Kuroda, Isao Date, Hiroyuki Kobayashi, Toshihiro Kumabe, Takaaki Beppu, Masayuki Kanamori, Shota Kasai, Yasuko Nishimura, Hao Xiong, Christopher Ocampo, Masakazu Yamada, Kazuhiko Mishima
Summary: The INTELLANCE-J study evaluated the efficacy and safety of a potent antibody-drug conjugate targeting EGFR in Japanese patients with WHO III/IV glioma, both alone and in combination with chemotherapy or chemoradiotherapy. The study highlighted the acceptable safety profile of Depatux-M in this patient population and the impact of combination therapy with chemotherapy and chemoradiotherapy.
Article
Biochemical Research Methods
Kangrui Huang, Hiroki Matsumura, Yaqi Zhao, Maik Herbig, Dan Yuan, Yohei Mineharu, Jeffrey Harmon, Justin Findinier, Mai Yamagishi, Shinsuke Ohnuki, Nao Nitta, Arthur R. Grossman, Yoshikazu Ohya, Hideharu Mikami, Akihiro Isozaki, Keisuke Goda
Summary: The deep-learning-enhanced imaging flow cytometry (dIFC) utilizes an image restoration algorithm to improve throughput while maintaining sensitivity and spatial resolution. By training a high-resolution image generator, dIFC can produce high-quality cell images and demonstrate enhancements in FISH-spot counting and cell measurements.
Article
Multidisciplinary Sciences
Yuki Oichi, Yohei Mineharu, Yuji Agawa, Takaaki Morimoto, Takeshi Funaki, Yasutaka Fushimi, Kazumichi Yoshida, Hiroharu Kataoka, Susumu Miyamoto
Summary: The bony carotid canal was previously thought to lack plasticity, but research has shown that its area can change according to morphological changes in the internal carotid artery, making it an important indicator for assessing carotid artery remodeling.
Article
Clinical Neurology
Shuhei Kawabata, Masatoshi Takagaki, Hajime Nakamura, Hiroya Oki, Daisuke Motooka, Shota Nakamura, Takeo Nishida, Eisaku Terada, Nobuyuki Izutsu, Tomofumi Takenaka, Yuichi Matsui, Shuhei Yamada, Katsunori Asai, Akihiro Tateishi, Toru Umehara, Yoshihiro Yano, Yohei Bamba, Katsumi Matsumoto, Toshihiro Kishikawa, Yukinori Okada, Tetsuya Iida, Haruhiko Kishima
Summary: This study compared the gut microbiome in patients with unruptured intracranial aneurysms (UIAs) and ruptured aneurysms (RAs) and found significant differences in their microbiome profiles. The genus Campylobacter and Campylobacter ureolyticus may be associated with the rupture of cerebral aneurysms.
Editorial Material
Clinical Neurology
Katsunori Asai, Hajime Nakamura, Manabu Kinoshita, Masaaki Taniguchi, Haruhiko Kishima
WORLD NEUROSURGERY
(2022)
Article
Clinical Neurology
Masahiro Tanji, Yohei Mineharu, Masahiro Kikuchi, Takayuki Nakagawa, Tatsunori Sakamoto, Masaru Yamashita, Mami Matsunaga, Fumihiko Kuwata, Yuji Kitada, Yukinori Terada, Yoshiki Arakawa, Kazumichi Yoshida, Hiroharu Kataoka, Susumu Miyamoto
Summary: Intraoperative cerebrospinal fluid leak by Esposito grade is associated with postoperative diabetes insipidus (DI).
WORLD NEUROSURGERY
(2022)
Article
Neurosciences
Yuki Oichi, Yohei Mineharu, Yuji Agawa, Takaaki Morimoto, Takeshi Funaki, Toshiaki Hitomi, Hatasu Kobayashi, Kenichi Todo, Shoichi Tani, Hirotoshi Imamura, Kazumichi Yoshida, Hiroharu Kataoka, Akio Koizumi, Nobuyuki Sakai, Susumu Miyamoto
Summary: This study investigated the role of narrow carotid canal and RNF213 mutation in differentiating between moyamoya disease and middle cerebral artery disease. The results showed that patients with moyamoya disease had significantly narrower carotid canals, and the combination of these factors can better distinguish the two phenotypes.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
(2022)
Article
Clinical Neurology
T. Funaki, A. Miyakoshi, H. Kataoka, J. C. Takahashi, Y. Takagi, K. Yoshida, T. Kikuchi, Y. Mineharu, M. Okawa, Y. Yamao, Y. Fushimi, S. Miyamoto
Summary: This study investigates the association between the extent of angiographic revascularization posterior to the central sulcus and the postoperative reduction of choroidal anastomosis. The results suggest that a larger revascularization posterior to the central sulcus is associated with postoperative reduction of choroidal anastomosis, which may help in preventing hemorrhage.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Yasuzumi Matsui, Yohei Mineharu, Yuki Noguchi, Etsuko Yamamoto Hattori, Hirohito Kubota, Masahiro Hirata, Susumu Miyamoto, Hiroshi Sugiyama, Yoshiki Arakawa, Yasuhiko Kamikubo
Summary: The malignancy of medulloblastoma depends on its molecular classification. This study revealed that the RUNX family genes were upregulated in Sonic Hedgehog (SHH)-type medulloblastoma, and a novel drug, Chb-M', showed anti-tumor effects by inhibiting the activity of RUNX1 and RUNX2. This finding suggests that targeting RUNX1 and RUNX2 could be a potential therapeutic strategy for SHH-type medulloblastoma with p53 mutation.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Meeting Abstract
Oncology
Katsunori Asai, Yoshitaka Narita, Motoo Nagane, Kazuhiko Mishima, Yasuhito Terui, Yoshiki Arakawa, Hajime Yonezawa, Noriko Fukuhara, Kazuhiko Sugiyama, Naoki Shinojima, Arata Aoi, Ryo Nishikawa
JOURNAL OF CLINICAL ONCOLOGY
(2023)