山崎 文登 (ヤマザキ フミト)

Yamazaki, Fumito

写真a

所属(所属キャンパス)

医学部 小児科学教室 (信濃町)

職名

助教(有期)

 

論文 【 表示 / 非表示

  • Thiotepa–melphalan myeloablative therapy for high-risk neuroblastoma

    Yamazaki F., Yamasaki K., Kiyotani C., Hashii Y., Shioda Y., Hara J., Matsumoto K.

    Pediatric Blood and Cancer (Pediatric Blood and Cancer)  68 ( 6 )  2021年06月

    ISSN  15455009

     概要を見る

    Background: Appropriate high-dose chemotherapy (HDC) for high-risk neuroblastoma has not yet been established. In Japan, a unique HDC regimen that comprises two cycles of a total of 800 mg/m of thiotepa and a total of 280 mg/m of melphalan is widely utilized. Methods: To evaluate the safety and efficacy of this thiotepa–melphalan high-dose therapy for high-risk neuroblastoma, we reviewed the medical records of 41 patients with high-risk neuroblastoma who underwent this regimen followed by autologous peripheral blood stem cell rescue between 2002 and 2012. MYCN-amplified high-risk neuroblastomas were observed in 23 patients. All patients underwent intensive multidrug induction chemotherapy, but none underwent anti-GD2 antibody immunotherapy. The primary tumor was resected at the adequate time point. Results: The median follow-up duration for living patients was 9.2 years (range 5.5–14.0 years). The 5-year event-free survival (EFS) and overall survival from treatment initiation were 41.5 ± 7.7% and 56.1 ± 7.8%, respectively. The 5-year EFS of MYCN-amplified high-risk neuroblastoma patients was 60.9 ± 10.2%, which was significantly superior compared with those with MYCN-nonamplified high-risk neuroblastoma (16.7 ± 8.8%; p <.001). MYCN amplification was the most favorable prognostic factor for EFS (hazard ratio = 0.29; 95% confidence interval = 0.12–0.66). Of the 41 patients, three died because of regimen-related toxicity (infection, n = 2; microangiopathy, n = 1). Conclusion: The thiotepa–melphalan high-dose therapy with thiotepa and melphalan may be effective for high-risk neuroblastoma. However, this regimen is toxic and warrants special attention in clinical practice. 2 2

  • A Case of Pulmonary Veno-occlusive Disease following Hepatic Veno-occlusive Disease after Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma

    Isshiki K., Shima H., Yamazaki F., Takenouchi T., Shimada H.

    Journal of Pediatric Hematology/Oncology (Journal of Pediatric Hematology/Oncology)  42 ( 7 ) e677 - e679 2020年10月

    ISSN  10774114

     概要を見る

    © 2020 Lippincott Williams and Wilkins. All rights reserved. Pulmonary veno-occlusive disease (PVOD) is an uncommon form of pulmonary hypertension that is usually difficult to diagnose and is refractory to conservative treatment. PVOD can occur in connection with high-dose chemotherapy or hematopoietic stem cell transplantation, similar to hepatic veno-occlusive disease (HVOD). Here, we present a case of neuroblastoma with PVOD following HVOD after high-dose chemotherapy that was resolved with conservative treatment. Respiratory symptoms or edema after HVOD may suggest PVOD, and prompt diagnosis on high-resolution computed tomography will result in a favorable prognosis.

  • Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion

    Ito J., Nakano Y., Shima H., Miwa T., Kogure Y., Isshiki K., Yamazaki F., Oishi Y., Morimoto Y., Kataoka K., Okita H., Hirato J., Ichimura K., Shimada H.

    Brain Tumor Pathology (Brain Tumor Pathology)  37 ( 3 ) 105 - 110 2020年07月

    ISSN  14337398

     概要を見る

    © 2020, The Japan Society of Brain Tumor Pathology. Central nervous system (CNS) ganglioneuroblastoma is a rare neuroectodermal neoplasm and little is known about its clinical and biological features. Herein, we report a pediatric case of CNS ganglioneuroblastoma harboring MYO5A-NTRK3 fusion. The patient, a 4-year-old boy, underwent a partial resection of a supratentorial tumor that was histopathologically diagnosed as a CNS ganglioneuroblastoma. Treatment with radiotherapy was started per the St Jude Medulloblastoma 03 (SJMB03) protocol; however, the tumor progressed rapidly and radiotherapy was temporally discontinued. Meanwhile, the patient underwent a second surgery, in which a gross total resection was successfully performed, following which he completed the remaining protocol-based therapy. Although an early focal recurrence was detected for which he received additional radiotherapy and oral temozolomide, the patient remained in complete remission for 14 months after the completion of the treatment. A central pathological review and molecular analysis were performed that revealed a MYO5A-NTRK3 fusion. Interestingly, the MYO5A-NTRK3 fusion has been recurrently detected in melanocytic tumors but not in other types of tumors. Therefore, it can be speculated that our case might partly share tumorigenesis mechanisms with MYO5A-NTRK3-positive melanocytic tumors. In addition, our case may enable an improved understanding of the pathogenesis and clinical features of CNS ganglioneuroblastomas.

  • Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome

    Takenouchi T., Kodo K., Yamazaki F., Nakatomi H., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  185 ( 3 ) 999 - 1003 2020年

    ISSN  15524825

     概要を見る

    © 2020 Wiley Periodicals LLC Skeletal overgrowth accompanied by de novo heterozygous activating mutations in PDGFRB (platelet-derived growth factor receptor beta), that is, p.Pro584Arg and p.Trp566Arg, defines Kosaki overgrowth syndrome (OMIM #616592). Emerging evidence suggests a role of PDGFRB in the genesis of cerebral aneurysms. The delineation of the range and progression of the vascular phenotype of Kosaki overgrowth syndrome is urgently needed. Herein, we conducted subsequent analyses of serial neurovascular imaging studies of two original patients with a de novo heterozygous mutation in PDGFRB, that is, p.Pro584Arg. The analysis showed the progressive dilation of basilar and vertebral arteries and coronary arteries commencing during the teenage years and early 20s. The radiographic appearance of the basilar vertebral aneurysms showed signs of arterial wall dilation, compatible with the known vascular pathology of vascular-type Ehlers-Danlos syndrome and Loeys-Dietz syndrome. The dolichoectasia in cerebrovascular arteries can lead to fatal complications, even with neurosurgical interventions. To prevent the progression of artery dilation, preventative and therapeutic medical measures using tyrosine kinase inhibitors may be necessary in addition to optimal control of the systemic blood pressure. Kosaki overgrowth syndrome is a clinically recognizable syndrome that can exhibit progressive dilatory and tortuous vascular changes in basilar/vertebral and coronary arteries as early as in the teenage years. We recommend careful counseling regarding the risk of future vascular complications, optimal blood pressure control, and regular systemic vascular screening during follow-up examinations.

  • Frequent mutations of genes encoding vacuolar H <sup>+</sup> -ATPase components in granular cell tumors

    Sekimizu M., Yoshida A., Mitani S., Asano N., Hirata M., Kubo T., Yamazaki F., Sakamoto H., Kato M., Makise N., Mori T., Yamazaki N., Sekine S., Oda I., Watanabe S.i., Hiraga H., Yonemoto T., Kawamoto T., Naka N., Funauchi Y., Nishida Y., Honoki K., Kawano H., Tsuchiya H., Kunisada T., Matsuda K., Inagaki K., Kawai A., Ichikawa H.

    Genes Chromosomes and Cancer (Genes Chromosomes and Cancer)  58 ( 6 ) 373 - 380 2019年06月

    ISSN  10452257

     概要を見る

    © 2018 Wiley Periodicals, Inc. Granular cell tumors (GCTs) are rare mesenchymal tumors that exhibit a characteristic morphology and a finely granular cytoplasm. The genetic alterations responsible for GCT tumorigenesis had been unknown until recently, when loss-of-function mutations of ATP6AP1 and ATP6AP2 were described. Thus, we performed whole-exome sequencing, RNA sequencing, and targeted sequencing of 51 GCT samples. From these genomic analyses, we identified mutations in genes encoding vacuolar H + -ATPase (V-ATPase) components, including ATP6AP1 and ATP6AP2, in 33 (65%) GCTs. ATP6AP1 and ATP6AP2 mutations were found in 23 (45%) and 2 (4%) samples, respectively, and all were truncating or splice site mutations. In addition, seven other genes encoding V-ATPase components were also mutated, and three mutations in ATP6V0C occurred on the same amino acid (isoleucine 136). These V-ATPase component gene mutations were mutually exclusive, with one exception. These results suggest that V-ATPase function is impaired in GCTs not only by loss-of-function mutations of ATP6AP1 and ATP6AP2 but also through mutations of other subunits. Our findings provide additional support for the hypothesis that V-ATPase dysfunction promotes GCT tumorigenesis.

全件表示 >>

総説・解説等 【 表示 / 非表示

競争的研究費の研究課題 【 表示 / 非表示

  • 小児骨肉腫におけるBRCAnessと化学療法感受性に関する検討

    2020年04月
    -
    2022年03月

    文部科学省・日本学術振興会, 科学研究費助成事業, 山崎 文登, 若手研究, 補助金,  研究代表者