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Yasukazu Hijikata,Shigeo Ueda,Takao Yasuhara,Daisuke Umebayashi,Toshiki Endo,Toshihiro Takami,Masaki Mizuno,Kazutoshi Hida,Minoru Hoshimaru 대한척추신경외과학회 2022 Neurospine Vol.19 No.4
Objective: To assess the current management of primary spinal cord tumors (PSCTs) and determine whether and to what extent there are differences in surgical strategies for PSCTs. Methods: The Neurospinal Society of Japan conducted a survey between April 1 and 30, 2021. Certified spine surgeons were requested for information on the frequency of surgeries in 2020 and the surgical strategies adopted for each PSCTs. The following tumor histologies were focused: schwannoma, meningioma, and cauda equina tumor as extramedullary tumors; and ependymoma, hemangioblastoma, astrocytoma, and cavernoma as intramedullary tumors. The participants were divided according to their response as follows: experts, who had experienced ≥ 100 surgeries for PSCTs, and nonexperts. Results: Among 308 participants (63%), 35 (11%) were experts. The total number of PSCTs in 2020 was 802 of which 564 tumors were extramedullary and 223 were intramedullary. Schwannoma accounted for 53% of the extramedullary tumors, and ependymoma accounted for 39% of the intramedullary tumors. Surgical strategies significantly differed among both the experts and nonexperts groups. Some discrepancies in the adopted surgical strategies were observed between groups. Some of the nonexperts, and none of the experts, ruled out surgery for schwannomas (Eden type 4), astrocytomas, or cavernomas. Five nonexperts (2.2%), and none of the experts, resected the entire dura for meningiomas. Conclusion: A nationwide survey revealed that a sufficient consensus did not exist regarding surgical strategies for PSCTs. A disease-specific registry for PSCTs is necessary in academic societies.
Toshiki Endo,Tomoo Inoue,Masaki Mizuno,Ryu Kurokawa,Kiyoshi Ito,Shigeo Ueda,Toshihiro Takami,Kazutoshi Hida,Minoru Hoshimaru,Investigators of intramedullary spinal cord tumors in the Neurospinal Socie 대한척추신경외과학회 2022 Neurospine Vol.19 No.2
Objective: We performed a retrospective observational study to demonstrate the surgical risks and long-term prognoses of intramedullary tumors in Japan using a multicenter registry authorized by the Neurospinal Society of Japan. Methods: Data from 1,033 consecutive patients with intramedullary tumors, treated between 2009 and 2020, were collected from 58 centers. Patients with spinal lipomas or myxopapillary ependymomas were excluded. Patient characteristics, clinical presentations, imaging characteristics, treatments, and outcomes were analyzed. The modified McCormick scale was used to classify functional status. Survival was described using Kaplan-Meier curves, and multivariable logistic regression analyses were performed. Results: The mean age of the patients was 48.4 years. Data of 361 ependymomas, 196 hemangioblastomas, 168 astrocytic tumors, 160 cavernous malformations, and the remaining 126 cases including subependymomas, metastases, schwannomas, capillary hemangiomas, and intravascular B-cell lymphomas were analyzed. Twenty-two patients were undiagnosed. The mean follow-up duration was 46.1 ± 38.5 months. Gross total tumor removal was achieved in 672 tumors (65.1%). On the modified McCormick scale, 234 patients (22.7%) had worse postoperative grades at the time of discharge. However, neurological status gradually improved. At 6 months postoperatively, 251 (27.5%), 500 (54.9%), and 160 patients (17.6%) had improved, unchanged, and worsened grades, respectively. Preoperative functional status, gross total tumor removal, and histopathological type were significantly associated with mortality and functional outcomes. Conclusion: Our findings demonstrate better postoperative functional outcomes in patients with fewer preoperative neurological deficits. Degree of resection, postoperative treatments, and prognoses are closely related to the histology of intramedullary tumors.
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
Hitomi Yatsuki,Ken Higashimoto,Kosuke Jozaki,Kayoko Koide,Junichiro Okada,Yoriko Watanabe,Nobuhiko Okamoto,Yoshinobu Tsuno,Yoko Yoshida,Kazutoshi Ueda,Kenji Shimizu,Hirofumi Ohashi,Tsunehiro Mukai,Hid 한국유전학회 2013 Genes & Genomics Vol.35 No.2
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor features. BWS is caused by several genetic/epigenetic alterations, such as loss of methylation at KvDMR1,gain of methylation at H19-DMR, paternal uniparental disomy of chromosome 11, CDKN1C mutations, and structural abnormalities of chromosome 11. CDKN1C is an imprinted gene with maternal preferential expression, encoding for a cyclin-dependent kinase (CDK) inhibitor. Mutations in CDKN1C are found in 40 % of familial BWS cases with dominant maternal transmission and in *5 % of sporadic cases. In this study, we searched for CDKN1C mutations in 37BWS cases that had no evidence for other alterations. We found five mutations—four novel and one known—from a total of six patients. Four were maternally inherited and one was a de novo mutation. Two frame-shift mutations and one nonsense mutation abolished the QT domain, containing a PCNA-binding domain and a nuclear localization signal. Two missense mutations occurred in the CDK inhibitory domain,diminishing its inhibitory function. The above-mentioned mutations were predicted by in silico analysis to lead to loss of function; therefore, we strongly suspect that such anomalies are causative in the etiology of BWS.