2022/05/14 更新

写真a

タニグチ リエコ
谷口 理恵子
TANIGUCHI Rieko
所属
医学部附属病院 小児がん治療センター 病院助教
職名
病院助教

学位 1

  1. 博士(医学) ( 2019年9月   名古屋大学 ) 

 

論文 15

  1. Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia.

    Narita A, Miwata S, Imaya M, Tsumura Y, Yamamori A, Wakamatsu M, Hamada M, Taniguchi R, Okuno Y, Muramatsu H, Takahashi Y

    Blood advances   6 巻 ( 8 ) 頁: 2517 - 2519   2022年4月

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    記述言語:英語  

    DOI: 10.1182/bloodadvances.2021006044

    PubMed

  2. Simple and robust methylation test for risk stratification of patients with juvenile myelomonocytic leukemia

    Kitazawa Hironobu, Okuno Yusuke, Muramatsu Hideki, Aoki Kosuke, Murakami Norihiro, Wakamatsu Manabu, Suzuki Kyogo, Narita Kotaro, Kataoka Shinsuke, Ichikawa Daisuke, Hamada Motoharu, Taniguchi Rieko, Kawashima Nozomu, Nishikawa Eri, Narita Atsushi, Nishio Nobuhiro, Hama Asahito, Loh Mignon L., Stieglitz Elliot, Kojima Seiji, Takahashi Yoshiyuki

    BLOOD ADVANCES   5 巻 ( 24 ) 頁: 5507 - 5518   2021年12月

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    記述言語:日本語   出版者・発行元:Blood Advances  

    Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm that develops during infancy and early childhood. The array-based international consensus definition of DNA methylation has recently classified patients with JMML into the following 3 groups: high (HM), intermediate (IM), and low methylation (LM). To develop a simple and robust methylation clinical test, 137 patients with JMML were analyzed using the Digital Restriction Enzyme Analysis of Methylation (DREAM), which is a next-generation sequencing–based methylation analysis. Unsupervised consensus clustering of the discovery cohort (n 5 99) using DREAM data identified HM (HM_DREAM; n 5 35) and LM subgroups (LM_DREAM; n 5 64). Of the 98 cases that could be compared with the international consensus classification, 90 HM (n 5 30) and LM (n 5 60) cases had 100% concordance with DREAM clustering results. Of the remaining 8 cases comprising the IM group, 4 were classified as belonging to the HM_DREAM group and 4 to the LM_DREAM group. A machine-learning classifier was successfully constructed using a support vector machine (SVM), which divided the validation cohort (n 5 38) into HM (HM_SVM, n 5 18) and LM (LM_SVM; n 5 20) groups. Patients with the HM_SVM profile had a significantly poorer 5-year overall survival rate than those with the LM_SVM profile. In conclusion, we developed a robust methylation test using DREAM for patients with JMML. This simple and straightforward test can be easily incorporated into diagnosis to generate a methylation classification for patients so they can receive risk-adapted treatment in the context of future clinical trials.

    DOI: 10.1182/bloodadvances.2021005080

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  3. Outcomes of KIR-Ligand Incompatible Allogeneic Cord Blood Transplantation for Relapsed Stage 4 Neuroblastoma: A Single Institutional Study

    Kataoka Shinsuke, Nishio Nobuhiro, Wakamatsu Manabu, Taniguchi Rieko, Nishikawa Eri, Hamada Motoharu, Kawashima Nozomu, Narita Atsushi, Muramatsu Hideki, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  4. Prolonged Hospitalization and Late Gastroenterological Complications in Children Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

    Kawashima Nozomu, Kataoka Shinsuke, Hamada Motoharu, Nishikawa Eri, Taniguchi Rieko, Narita Atsushi, Muramatsu Hideki, Nishio Nobuhiro, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  5. Strategy of Intensified Therapy for High Risk Pediatric Acute Lymphoblastic Leukemia Based on NGS-MRD-Based Risk Stratification

    Hamada Motoharu, Imaya Masayuki, Okuno Yusuke, Kawashima Nozomu, Taniguchi Rieko, Narita Atsushi, Muramatsu Hideki, Nishio Nobuhiro, Hasegawa Shinji, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  6. Successful Therapy with Ascites Drainage and Defibrotide for Veno-Occlusive Disease Developed after Bone Marrow Transplantation in Acute Lymphoblastic Leukemia

    Maemura Ryo, Narita Atsushi, Kataoka Shinsuke, Taniguchi Rieko, Hamada Motoharu, Nishikawa Eri, Kawashima Nozomu, Nishio Nobuhiro, Muramatsu Hideki, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  7. Ten Patients with RUNX1 Mutation who were Suspected with FPD-MM in a Pediatric Cohort of Inherited Bone Marrow Failure Syndrome

    Yamamori Ayako, Hamada Motoharu, Muramatsu Hideki, Taniguchi Rieko, Kataoka Shinsuke, Kawashima Nozomu, Narita Atsushi, Nishio Nobuhiro, Okuno Yusuke, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  8. Using Chemotherapy to Treat Neuroblastoma Stage 4S with Hepatomegaly in a Patient Younger than 2 Months Old

    Imaya Masayuki, Nishio Nobuhiro, Taniguchi Rieko, Kataoka Shinsuke, Hamada Motoharu, Nishikawa Eri, Kawashima Nozomu, Narita Atsushi, Muramatsu Hideki, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

    Web of Science

  9. Microsatellite instability-high is rare events in refractory pediatric solid tumors

    Yoshida Taro, Muramatsu Hideki, Wakamatsu Manabu, Taniguchi Rieko, Ichikawa Daisuke, Nakaguro Masato, Natsume Atsushi, Takahashi Yoshiyuki

    PEDIATRIC HEMATOLOGY AND ONCOLOGY     頁: 1 - 7   2021年10月

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    記述言語:日本語   出版者・発行元:Pediatric Hematology and Oncology  

    Microsatellite instability (MSI)-high status is associated with good responsiveness to immune checkpoint inhibitors. Although MSI-high status has been actively investigated in pediatric brain tumors, studies of other pediatric solid tumors are lacking. Among 334 consecutive pediatric patients with solid tumors, we retrospectively analyzed formalin-fixed paraffin-embedded tumor tissues of 36 of 74 patients (49%) who died of disease. We assessed the MSI status in these tissues using five multiplexed markers. The results revealed that none of the patients had an MSI-high status. These results indicate that MSI-high status is a rare event in pediatric patients with refractory/relapsed solid tumors. Supplemental data for this article is available online at https://doi.org/10.1080/08880018.2021.1998266.

    DOI: 10.1080/08880018.2021.1998266

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  10. Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes

    Miwata Shunsuke, Narita Atsushi, Okuno Yusuke, Suzuki Kyogo, Hamada Motoharu, Yoshida Taro, Imaya Masayuki, Yamamori Ayako, Wakamatsu Manabu, Narita Kotaro, Kitazawa Hironobu, Ichikawa Daisuke, Taniguchi Rieko, Kawashima Nozomu, Nishikawa Eri, Nishio Nobuhiro, Kojima Seiji, Muramatsu Hideki, Takahashi Yoshiyuki

    HAEMATOLOGICA   106 巻 ( 9 ) 頁: 2511 - 2515   2021年9月

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    記述言語:日本語   出版者・発行元:Haematologica  

    DOI: 10.3324/haematol.2021.278334

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  11. Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor

    Kataoka Shinsuke, Kawashima Nozomu, Okuno Yusuke, Muramatsu Hideki, Miwata Shunsuke, Narita Kotaro, Hamada Motoharu, Murakami Norihiro, Taniguchi Rieko, Ichikawa Daisuke, Kitazawa Hironobu, Suzuki Kyogo, Nishikawa Eri, Narita Atsushi, Nishio Nobuhiro, Yamamoto Hidenori, Fukasawa Yoshie, Kato Taichi, Yamamoto Hiroyuki, Natsume Jun, Kojima Seiji, Nishino Ichizo, Taketani Takeshi, Ohnishi Hidenori, Takahashi Yoshiyuki

    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY   148 巻 ( 2 ) 頁: 639 - 644   2021年8月

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    記述言語:日本語   出版者・発行元:Journal of Allergy and Clinical Immunology  

    Background: Type I interferonopathies are a recently established subgroup of autoinflammatory diseases caused by mutations in genes associated with proteasome degradation or cytoplasmic RNA- and DNA-sensing pathways. Objective: This study aimed to unveil the molecular pathogenesis of a patient with novel type I interferonopathy, for which no known genetic mutations have been identified. Methods: We performed the whole-exome sequencing of a 1-month-old boy with novel type I interferonopathy. We also investigated proteasome activities using patient-derived B lymphoblastoid cell lines (LCLs) and normal LCLs transduced with the mutant gene. Results: Whole-exome sequencing identified a de novo proteasome 20S subunit beta 9 (PSMB9) p.G156D mutation in the patient who developed fever, a chilblain-like skin rash, myositis, and severe pulmonary hypertension due to the hyperactivation of IFN-α. Patient-derived LCLs revealed reduced proteasome activities, and exogenous transduction of mutant PSMB9 p.G156D into normal LCLs significantly suppressed proteasome activities, and the endogenous PSMB9 protein was lost along with the reduction of other immunoproteasome subunits, PSMB8 and PSMB10 proteins. He responded to the administration of a Janus kinase inhibitor, tofacitinib, and he was successfully withdrawn from venoarterial extracorporeal membranous oxygenation. At age 7 months, he received an unrelated cord blood transplantation. At 2 years posttransplantation, he no longer required tofacitinib and experienced no disease recurrence. Conclusions: We present the case of a patient with a novel type I interferonopathy caused by a de novo PSMB9 p.G156D mutation that suppressed the wild-type PSMB9 protein expression. Janus kinase inhibitor and stem cell transplantation could be curative therapies in patients with severe interferonopathies.

    DOI: 10.1016/j.jaci.2021.03.010

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  12. A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven

    Taniguchi Rieko, Muramatsu Hideki, Okuno Yusuke, Yoshida Taro, Wakamatsu Manabu, Hamada Motoharu, Shirota Chiyoe, Sumida Wataru, Hinoki Akinari, Tainaka Takahisa, Gotoh Yoshimitsu, Tsuzuki Toyonori, Tanaka Yukichi, Kojima Seiji, Uchida Hiroo, Takahashi Yoshiyuki

    FAMILIAL CANCER     2021年6月

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    記述言語:日本語   出版者・発行元:Familial Cancer  

    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by heterozygous germline variants in the fumarate hydratase (FH) gene and is associated with increased susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). HLRCC-associated RCC usually occurs in the middle age, with the median age being 40–44 years. This report describes a seven-year-old (84-month-old) male who developed a large right kidney tumor with multiple cystic lesions that contained enhanced solid components. There was no evidence of distant metastasis. The male patient underwent right nephrectomy and has been recovering well without metastasis or recurrence. Pathological examination revealed that tumor cells with relatively prominent nucleoli and surrounded by halos, were located in a limited area. Immunohistochemical staining was negative for FH. Whole-exome sequencing identified his germline variant in the FH gene and its loss of heterozygosity in the tumor. At nine years (114 months) of age, the male patient showed no recurrence of the tumor. This was the youngest-onset case of HLRCC-associated RCC to date. This report may affect the starting age for future RCC-surveillance programs for patients with HLRCC.

    DOI: 10.1007/s10689-021-00268-8

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  13. Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas

    Ichikawa Daisuke, Yamashita Kyoko, Okuno Yusuke, Muramatsu Hideki, Murakami Norihiro, Suzuki Kyogo, Kojima Daiei, Kataoka Shinsuke, Hamada Motoharu, Taniguchi Rieko, Nishikawa Eri, Kawashima Nozomu, Narita Atsushi, Nishio Nobuhiro, Hama Asahito, Kasai Kenji, Mizuno Seiji, Shimoyama Yoshie, Nakaguro Masato, Okita Hajime, Kojima Seiji, Nakazawa Atsuko, Takahashi Yoshiyuki

    NPJ GENOMIC MEDICINE   6 巻 ( 1 ) 頁: 49   2021年6月

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    記述言語:日本語   出版者・発行元:npj Genomic Medicine  

    Pediatric solid tumors are a heterogeneous group of neoplasms with over 100 subtypes. Clinical and histopathological diagnosis remains challenging due to the overlapping morphological and immunohistochemical findings and the presence of atypical cases. To evaluate the potential utility of including RNA-sequencing (RNA-seq) in the diagnostic process, we performed RNA-seq in 47 patients with suspected pediatric sarcomas. Histopathologists specialized in pediatric cancer re-evaluated pathological specimens to reach a consensus diagnosis; 42 patients were diagnosed with known subtypes of solid tumors whereas 5 patients were diagnosed with undifferentiated sarcoma. RNA-seq analysis confirmed and refined consensus diagnoses and further identified diagnostic genetic variants in four of the five patients with undifferentiated sarcoma. Genetic lesions were detected in 23 patients, including the novel SMARCA4-THOP1 fusion gene and 22 conventional or recently reported genetic events. Unsupervised clustering analysis of the RNA-seq data identified a distinct cluster defined by the overexpression of rhabdomyosarcoma-associated genes including MYOG and CHRNG. These findings suggest that RNA-seq-based genetic analysis may aid in the diagnosis of suspected pediatric sarcomas, which would be useful for the development of stratified treatment strategies.

    DOI: 10.1038/s41525-021-00210-y

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  14. Time-resolved serial femtosecond crystallography reveals early structural changes in channelrhodopsin

    Oda Kazumasa, Nomura Takashi, Nakane Takanori, Yamashita Keitaro, Inoue Keiichi, Ito Shota, Vierock Johannes, Hirata Kunio, Maturana Andres D., Katayama Kota, Ikuta Tatsuya, Ishigami Itsuki, Izume Tamaki, Umeda Rie, Eguma Ryuun, Oishi Satomi, Kasuya Go, Kato Takafumi, Kusakizako Tsukasa, Shihoya Wataru, Shimada Hiroto, Takatsuji Tomoyuki, Takemoto Mizuki, Taniguchi Reiya, Tomita Atsuhiro, Nakamura Ryoki, Fukuda Masahiro, Miyauchi Hirotake, Lee Yongchan, Nango Eriko, Tanaka Rie, Tanaka Tomoyuki, Sugahara Michihiro, Kimura Tetsunari, Shimamura Tatsuro, Fujiwara Takaaki, Yamanaka Yasuaki, Owada Shigeki, Joti Yasumasa, Tono Kensuke, Ishitani Ryuichiro, Hayashi Shigehiko, Kandori Hideki, Hegemann Peter, Iwata So, Kubo Minoru, Nishizawa Tomohiro, Nureki Osamu

    ELIFE   10 巻   2021年3月

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    記述言語:日本語   出版者・発行元:eLife  

    Channelrhodopsins (ChRs) are microbial light-gated ion channels utilized in optogenetics to control neural activity with light. Light absorption causes retinal chromophore isomerization and subsequent protein conformational changes visualized as optically distinguished intermediates, coupled with channel opening and closing. However, the detailed molecular events underlying channel gating remain unknown. We performed time-resolved serial femtosecond crystallographic analyses of ChR by using an X-ray free electron laser, which revealed conformational changes following photoactivation. The isomerized retinal adopts a twisted conformation and shifts toward the putative internal proton donor residues, consequently inducing an outward shift of TM3, as well as a local deformation in TM7. These early conformational changes in the pore-forming helices should be the triggers that lead to opening of the ion conducting pore.

    DOI: 10.7554/eLife.62389

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  15. Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR

    Wakamatsu M., Okuno Y., Murakami N., Miwata S., Kitazawa H., Narita K., Kataoka S., Ichikawa D., Hamada M., Taniguchi R., Suzuki K., Kawashima N., Nishikawa E., Narita A., Nishio N., Kojima S., Muramatsu H., Takahashi Y.

    Leukemia   35 巻 ( 1 ) 頁: 259 - 263   2021年1月

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    記述言語:日本語   出版者・発行元:Leukemia  

    DOI: 10.1038/s41375-020-0817-x

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