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Faculty of Medicine College Hospital Pediatrics department |
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Assistant Professor |
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KAMIMURA Sachiyo
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Papers 【 display / non-display 】
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Yamada A., Nagasawa S., Nakagawa M., Kamimura S., Inoue N., Watanabe H., Takagi M., Koga Y., Keino D., Nakayama H., Yoshimura J., Doi K., Mitsui J., Tsuji S., Moritake H.
Human Cell 39 ( 8 ) 2026.8
Language：English Publishing type：Research paper (scientific journal) Publisher：Human Cell
Germline variants in leukemia predisposition genes are increasingly detected in pediatric patients. Nevertheless, the rare variants identified in diagnostic samples may be misinterpreted without variant-level functional evaluation and cautious clinical interpretation. Whole-exome sequencing was performed on 28 individuals from five kindreds in which at least two children developed acute leukemia. Results identified a rare ETV6 variant, c.604C > G (p.Arg202Gly), in monozygotic twins with ETV6::RUNX1-positive B-cell precursor acute lymphoblastic leukemia. To support variant interpretation, HeLa-cell populations stably expressing FLAG-tagged wild-type ETV6 and p.Arg202Gly and the known loss-of-function control p.Pro214Leu were established. Subcellular localization was assessed via immunofluorescence microscopy with quantitative scoring. Transcriptional repression was evaluated using luciferase reporter assays driven by ETV6 target promoters (MMP3 and PF4). p.Arg202Gly predominantly showed nuclear localization comparable to WT, whereas p.Pro214Leu was enriched in the cytoplasm. In the reporter assays, similar to WT, p.Arg202Gly retained repression activity. Meanwhile, p.Pro214Leu failed to repress both reporters. The in-silico prediction of nuclear export sequences suggested an additional export signal in p.Pro214Leu, but not in p.Arg202Gly. Collectively, these findings indicate that p.Arg202Gly behaves as WT-like in the assays performed and do not support a loss-of-function effect. Our study emphasizes the importance of variant-level functional assessment for rare ETV6 variants to inform clinical interpretation and avoid overestimation of pathogenicity.
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Complement-related genetic analysis for Japanese children with transplant-associated thrombotic microangiopathy. Reviewed
Yamada A, Nagasawa S, Nakagawa M, Kamimura S, Sakata N, Nakayama H, Hasegawa D, Okamoto Y, Takeuchi M, Ohara O, Moritake H
Frontiers in pediatrics 14 1879540 2026
Language：English Publishing type：Research paper (scientific journal)
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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation Reviewed
Nagasawa S., Nishimura T., Yamada A., Kamimura S., Ishimura M., Moritake H.
Human Genome Variation 11 ( 1 ) 41 2024.12
Language：English Publishing type：Research paper (scientific journal) Publisher：Human Genome Variation
We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management.
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Mitochondrial dynamics as a potential therapeutic target in acute myeloid leukemia Reviewed
Kinoshita M., Saito Y., Otani K., Uehara Y., Nagasawa S., Nakagawa M., Yamada A., Kamimura S., Moritake H.
International Journal of Hematology 120 ( 5 ) 601 - 612 2024.11
Language：English Publishing type：Research paper (scientific journal) Publisher：International Journal of Hematology
Acute myeloid leukemia (AML) cells are highly dependent on oxidative phosphorylation and the mitochondrial dynamics regulated by fusion-related genes MFN1, MFN2, and OPA1 and fission-related genes DNM1L and MFF. An analysis of previously published gene expression datasets showed that high expression of MFF was significantly associated with poor prognosis in patients with AML. Based on this finding, we investigated the impact of mitochondrial dynamics in AML. Transduction of shRNA against fission-related genes, DNM1L and MFF, inhibited growth and increased the mitochondrial area in AML cell lines. Extracellular flux analysis showed that deletion of mitochondrial dynamic regulators reduced mitochondrial respiration without significantly affecting glycolysis, except in shDNM1L-transfected cells. Immunodeficient NOG mice transplanted with DNM1L- or MFF-knockdown AML cells survived significantly longer than controls. Treatment of AML cell lines with Mdivi-1, which inhibits the DRP1 encoded by DNM1L, inhibited cell proliferation and oxidative phosphorylation. Our results show that mitochondrial dynamics play an important role in AML, and provide novel biological insights. The inhibition of mitochondrial dynamics induces unique mitochondrial alterations, which may be explored as a potential therapeutic target in AML.
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Nakame Kazuhiko, Masuya Ryuta, Nakazawa Shun, Nakagawa Midori, Yamada Ai, Kinoshita Mariko, Kamimura Sachiyo, Moritake Hiroshi, Ieiri Satoshi, Nanashima Atushi
Journal of the Japanese Society of Pediatric Surgeons 60 ( 2 ) 158 - 165 2024.4
Language：Japanese Publishing type：Research paper (scientific journal) Publisher：The Japanese Society of Pediatric Surgeons
<i>Purpose</i>: Central venous catheters (CVCs) are used in the treatment of pediatric hematological and oncological diseases. Recently, the ultrasound (US)-guided supraclavicular approach to brachiocephalic vein cannulation with in-plane views has been described as a safe central venous catheterization technique.<i>Methods</i>: A retrospective study was performed on patients who underwent US-guided tunneled CVC insertion into the internal jugular vein with out-of-plane views (IJV group) and the brachiocephalic vein with in-plane views (BCV group). The patients’ background characteristics, surgical outcomes, and complications were compared retrospectively.<i>Results</i>: A total of 40 tunneled CVCs (IJV group: n = 15, BCV group: n = 25) were inserted in 34 patients. The patients’ background characteristics were not significantly different between the two groups. The operative times were 30 min (range: 27–33 min) in the IJV group and 25.8 min (range: 22–27 min) in the BCV group. The BCV group had a significantly shorter operative time (p = 0.0026). Intraoperative complications were observed in one patient (6.7%) in the IJV group and none of the patients in the BCV group. Complications during maintenance were observed in 10 patients (66.7%) in the IJV group and 17 patients (68%) in the BCV group. Catheter-related bloodstream infection was noted in 10 patients (66.7%) in the IJV group and 12 patients (52%) in the BCV group; these infection rates were not significantly different. The periods of CVC implantation were 273 days (172–363.5 days) in the IJV group and 152 days (101–280 days) in the BCV group, which were not significantly different.<i>Conclusions</i>: A real-time US-guided supraclavicular approach to brachiocephalic catheterization was considered a safe technique for pediatric patients with hematological and oncological diseases.
MISC 【 display / non-display 】
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Nagasawa S., Yamada A., Kinoshita M., Kamimura S., Moritake H.
Pediatrics International 64 ( 1 ) e14970 2022.1
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatrics International
DOI： 10.1111/ped.14970
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Kinoshita M., Yamada A., Saito Y., Kamimura S., Moritake H.
Pediatrics International 64 ( 1 ) e14975 2022.1
Language：English Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatrics International
DOI： 10.1111/ped.14975
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Prevention of cisplatin-induced hearing-loss by sodium thiosulfate in medulloblastoma
Harao T., Yamada A., Kinoshita M., Kamimura S., Moritake H.
Pediatrics International 62 ( 10 ) 1204 - 1206 2020.10
Language：Japanese Publishing type：Rapid communication, short report, research note, etc. (scientific journal) Publisher：Pediatrics International
DOI： 10.1111/ped.14271
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Noguchi M., Moritake H., Kamimura S., Sonoda M., Ishimura M., Inagaki J.
Bone Marrow Transplantation 53 ( 9 ) 1214 - 1217 2018.9
Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (bulletin of university, research institution) Publisher：Bone Marrow Transplantation
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Yamada A., Moritake H., Kinoshita M., Sawa D., Kamimura S., Iwamoto S., Yamashita Y., Inagaki J., Takahashi T., Shimada A., Obara M., Nunoi H.
Pediatrics International 58 ( 9 ) 905 - 908 2016.9
Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (bulletin of university, research institution) Publisher：Pediatrics International
© 2016 Japan Pediatric Society Inversion of chromosome 16 [inv(16)] has a good prognosis in acute myeloid leukemia (AML), but additional genetic aberrations influence the outcome. We herein describe the case of a 15-year-old Japanese boy with inv(16) harboring a low-allelic burden internal tandem duplication of FLT3 (FLT3-ITD) and KIT mutations. Conventional chemotherapy eradicated a clone with a low-al lelic burden FLT3-ITD mutation, although another clone with a KIT mutation occurred 17 months later. Further investigation is necessary to identify AML with inv(16) conferring poor prognosis, to facilitate appropriate treatment with additional drugs, such as dasatinib or gemtuzumab ozogamicin.
DOI： 10.1111/ped.13010