2024/06/03 更新

写真a

カタオカ シンスケ
片岡 伸介
KATAOKA Shinsuke
所属
医学部附属病院 病院戦略室 病院助教
職名
病院助教

学位 2

  1. 医学博士 ( 2022年2月   名古屋大学 ) 

  2. 学士(医学) ( 2009年3月   名古屋大学 ) 

 

論文 36

  1. Late gastroenterological complications in children after allogeneic hematopoietic stem cell transplantation: A retrospective cohort study and a case series of children treated with Kampo medicines

    Kawashima, N; Kataoka, S; Hamada, M; Nishikawa, E; Taniguchi, R; Narita, A; Muramatsu, H; Nishio, N; Takahashi, Y

    TRADITIONAL & KAMPO MEDICINE   11 巻 ( 1 ) 頁: 74 - 82   2024年4月

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    出版者・発行元:Traditional and Kampo Medicine  

    Aim: This study aimed to describe children developing late gastrointestinal (GI) complications after allogeneic hematopoietic stem cell transplantation (allo-HSCT), focusing on Kampo medicine. Methods: At the Nagoya University Hospital Department of Pediatrics, 179 consecutive patients underwent allo-HSCT over five years, of whom 167 achieved engraftment and survived at least 100 days post transplant and therefore were included in the study. Results: Thirteen patients (7.8%) developed late GI symptoms. Among these, three had upper GI symptoms, three had lower GI symptoms, while seven had upper/lower GI symptoms. Total parenteral nutrition was administered in 10 (77%) patients for a median of 81 days (range: 20–303). Four (31%) had histologically proven graft-versus-host-disease (GVHD), two (15%) had adverse drug reactions, and one (8%) had a viral infection. All three patients with lower GI symptoms responded to Kampo formulas' warming interior [TM1]. Two patients with upper GI symptoms had epigastric rigidity and responded to Aurantii Fructus Immaturus-based formulas. One patient developed severe cachexia, which was successfully reversed with Kampo medicines. There were no adverse effects due to Kampo medicines. Conclusions: Late GI complications may be a burden on children after allo-HSCT. Kampo medicines may provide a safe and promising therapy to resolve GI symptoms not otherwise specified.

    DOI: 10.1002/tkm2.1392

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  2. DIAMNIOTIC DICHORIONIC TWINS WITH CHRONIC GRANULOMATOUS DISEASE UNDERGOING BONE MARROW TRANSPLANTATION FROM HLA-MATCHED SIBLING DONOR

    Mizutani, K; Wakamatsu, M; Muramatsu, H; Maemura, R; Yamamori, A; Kataoka, S; Narita, A; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   71 巻   頁: S30 - S30   2024年1月

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  3. REFRACTORY CHRONIC GVHD IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS SUCCESSFULLY TREATED WITH IBRUTINIB: A REPORT OF FIVE CASES

    Yamashita, D; Narita, A; Yamamori, A; Wakamatsu, M; Narita, K; Kataoka, S; Taniguchi, R; Muramatsu, H; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   71 巻   頁: S51 - S52   2024年1月

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  4. MOLECULAR PROFILING OF JUVENILE MYELOMONOCYTIC LEUKEMIA AND EXPLORATIONS OF NOVEL THERAPEUTIC AGENTS

    Wakamatsu, M; Muramatsu, H; Sajiki, D; Narita, K; Kataoka, S; Narita, A; Okuno, Y; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   71 巻   頁: S4 - S4   2024年1月

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  5. HEMATOLOGIC RESPONSE IN A PEDIATRIC PATIENT WITH VERY SEVERE APLASTIC ANEMIA WHO RECEIVED EQUINE ANTI-HUMAN THYMOCYTE IMMUNOGLOBULIN

    Narita, K; Maemura, R; Yamamori, A; Wakamatsu, M; Kataoka, S; Narita, A; Muramatsu, H; Shimasaki, N; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   71 巻   頁: S31 - S31   2024年1月

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  6. Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow

    Yamashita D., Muramatsu H., Narita A., Wakamatsu M., Tsumura Y., Sajiki D., Maemura R., Yamamori A., Imaya M., Narita K., Kataoka S., Taniguchi R., Nishio N., Okuno Y., Fujita N., Koh K., Umeda K., Morihana E., Iwafuchi H., Ito M., Kojima S., Hama A., Takahashi Y.

    Haematologica   108 巻 ( 12 ) 頁: 3438 - 3443   2023年12月

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    記述言語:英語   出版者・発行元:Haematologica  

    DOI: 10.3324/haematol.2022.282513

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  7. Error-Corrected Next-Generation Sequencing Provides a Comprehensive Overview of the Subclonal Mutation Landscape and Its Prognostic Implications in Juvenile Myelomonocytic Leukemia

    Sajiki, D; Wakamatsu, M; Muramatsu, H; Tsumura, Y; Yamashita, D; Maemura, R; Yamamori, A; Narita, K; Kataoka, S; Narita, A; Shimasaki, N; Nishio, N; Takahashi, Y

    BLOOD   142 巻   2023年11月

  8. Clinical and molecular features of <i>CBL</i>-mutated juvenile myelomonocytic leukemia

    Yoshida, T; Muramatsu, H; Wakamatsu, M; Sajiki, D; Murakami, N; Kitazawa, H; Okamoto, Y; Taniguchi, R; Kataoka, S; Narita, A; Hama, A; Okuno, Y; Takahashi, Y

    HAEMATOLOGICA   108 巻 ( 11 ) 頁: 3115 - 3119   2023年11月

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    記述言語:英語   出版者・発行元:Haematologica  

    DOI: 10.3324/haematol.2022.282385

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  9. Updated guidelines for chronic active Epstein-Barr virus disease

    Kawada, JI; Ito, Y; Ohshima, K; Yamada, M; Kataoka, S; Muramatsu, H; Sawada, A; Wada, T; Imadome, KI; Arai, A; Iwatsuki, K; Ohga, S; Kimura, H

    INTERNATIONAL JOURNAL OF HEMATOLOGY   118 巻 ( 5 ) 頁: 568 - 576   2023年11月

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    記述言語:英語   出版者・発行元:International Journal of Hematology  

    Chronic active Epstein–Barr virus disease (CAEBV), formerly named chronic active Epstein–Barr virus infection, is characterized by systemic inflammation and clonal proliferation of Epstein–Barr virus (EBV)-infected T or NK cells. As CAEBV is a potentially life-threatening illness, appropriate diagnosis and therapeutic interventions are necessary for favorable clinical outcomes. Substantial evidence regarding the pathogenesis and treatment of CAEBV has been accumulated since previous guidelines for the diagnosis of CAEBV were proposed. To reflect this evidence, we updated the guidelines for the diagnosis and treatment of CAEBV to improve clinical management of the disease. The details of the updated guidelines are presented in this report. Diagnosis of CAEBV now requires confirmation of a high copy number of EBV genome and EBV-infected T or NK cells. An EBV DNA load ≥ 10,000 IU/mL in whole blood is proposed as the diagnostic cutoff value for CAEBV in this updated guideline. A standard treatment approach for CAEBV has not been established, and hematopoietic stem cell transplantation (HSCT) is considered the only curative treatment. Chemotherapy can be administered to control disease activity before HSCT.

    DOI: 10.1007/s12185-023-03660-5

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  10. SHORT TELOMERES BEFORE TRANSPLANT ARE ASSOCIATED WITH GRAFT FAILURE FOLLOWING HEMATOPOIETIC CELL TRANSPLANT FOR CHILDREN WITH APLASTIC ANEMIA

    Narita, A; Muramatsu, H; Imaya, M; Yamashita, D; Sajiki, D; Maemura, R; Tsumura, Y; Yamamori, A; Wakamatsu, M; Narita, K; Kataoka, S; Taniguchi, R; Nishio, N; Takahashi, Y

    BONE MARROW TRANSPLANTATION   58 巻 ( SUPP1 ) 頁: 185 - 185   2023年11月

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  11. A Japanese retrospective study of non-tuberculous mycobacterial infection in children, adolescents, and young adult patients with hematologic-oncologic diseases.

    Tsumura Y, Muramatsu H, Tetsuka N, Imaizumi T, Sato K, Inoue K, Motomura Y, Cho Y, Yamashita D, Sajiki D, Maemura R, Yamamori A, Imaya M, Wakamatsu M, Narita K, Kataoka S, Hamada M, Taniguchi R, Nishikawa E, Narita A, Nishio N, Kojima S, Hoshino Y, Takahashi Y

    Haematologica     2023年10月

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    記述言語:英語  

    DOI: 10.3324/haematol.2023.283636

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  12. Vedolizumab for children with intestinal graft-versus-host disease: a case report and literature review

    Fukuta, T; Muramatsu, H; Yamashita, D; Sajiki, D; Maemura, R; Tsumura, Y; Yamamori, A; Imaya, M; Wakamatsu, M; Nishikawa, E; Narita, K; Kataoka, S; Taniguchi, R; Narita, A; Nishio, N; Takahashi, Y

    INTERNATIONAL JOURNAL OF HEMATOLOGY   118 巻 ( 3 ) 頁: 411 - 417   2023年9月

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    記述言語:英語   出版者・発行元:International Journal of Hematology  

    Acute graft-versus-host disease (aGVHD) is a challenging complication of allogeneic hematopoietic stem cell transplantation, and alternative therapies for patients showing inadequate response to steroids are limited. Vedolizumab, an anti-α4β7 integrin antibody widely used for treating inflammatory bowel diseases, has recently been studied in adult patients with steroid-refractory intestinal aGVHD. However, few studies have examined its safety and effectiveness in pediatric patients with intestinal aGVHD. We report the case of a male patient with intestinal late-onset aGVHD treated with vedolizumab. He underwent allogeneic cord blood transplantation for warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome and developed intestinal late-onset aGVHD 31 months after transplantation. The patient was refractory to steroids; however, vedolizumab was initiated 43 months after transplantation (at the age of 7 years) and the symptoms of intestinal aGVHD were alleviated. Additionally, favorable endoscopic findings were observed, such as reduction of erosion and regenerative epithelial growth. We also evaluated the efficacy of vedolizumab in 10 patients with intestinal aGVHD (9 from the literature review and the present case). Six patients (60%) showed an objective response to vedolizumab. No serious adverse events were observed in any patients. Vedolizumab is a potential treatment option for steroid-refractory intestinal aGVHD in pediatric patients.

    DOI: 10.1007/s12185-023-03590-2

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  13. Current Status and Issues of the Japan Oncofertility Registry

    Shigematsu, K; Shimizu, C; Furui, T; Kataoka, S; Kawai, K; Kishida, T; Kuwahara, A; Maeda, N; Makino, A; Mizunuma, N; Morishige, K; Nakajima, TE; Ota, K; Ono, M; Shiga, N; Tada, Y; Takae, S; Tamura, N; Watanabe, C; Yumura, Y; Suzuki, N; Takai, Y

    JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY   12 巻 ( 4 ) 頁: 584 - 591   2023年8月

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    記述言語:英語   出版者・発行元:Journal of Adolescent and Young Adult Oncology  

    Purpose: Fertility preservation (FP) is becoming increasingly common among child, adolescent, and young-adult (CAYA) patients with cancer. However, Japan has long lacked definite estimates of utilization rates for FP services among CAYA patients with cancer, and little is known about disease/FP outcomes among users. Therefore, the Japan Society for Fertility Preservation (JSFP) launched the Japan Oncofertility Registry (JOFR) in 2018 and started the online registration of information regarding primary disease, FP, and data on prognosis and pregnancy outcomes. This study reports the analytical results of FP data registered in the JOFR as of 2021. Methods: Data about patients’ primary disease(s), treatment courses, cancer and pregnancy outcomes, and specific procedures were extracted from the JOFR and analyzed. Results: In 2021, 1244 patients received counseling or treatment related to FP (540 males, 704 females). While the numbers of males in each age group were approximately equal, most females were aged between 31 and 40 years. In total, 490 male and 540 female patients underwent FP procedures. Leukemia, testicular cancer, and malignant lymphoma accounted for the majority of male cases seeking treatment, whereas breast cancer was the primary disease in two-thirds of the females. Since 1999, 395 patients have accumulatively experienced subsequent pregnancy. Conclusions: As of January 2022, >7000 cases from >100 fertility facilities have been registered in the JOFR. In the future, maintaining JOFR to disseminate information on cancer prognoses, pregnancy rates, and other oncofertility outcomes is expected to drive further expansion of oncofertility services in Japan.

    DOI: 10.1089/jayao.2022.0110

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  14. Human leukocyte antigen 7/8-matched unrelated bone marrow transplantation using anti-thymocyte globulin in children

    Hamada, M; Muramatsu, H; Torii, Y; Suzuki, K; Narita, A; Yoshida, T; Imaya, M; Yamamori, A; Wakamatsu, M; Miwata, S; Narita, K; Kataoka, S; Kawashima, N; Taniguchi, R; Nishikawa, E; Nishio, N; Ito, Y; Kojima, S; Takahashi, Y

    INTERNATIONAL JOURNAL OF HEMATOLOGY   118 巻 ( 1 ) 頁: 125 - 130   2023年7月

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    記述言語:英語   出版者・発行元:International Journal of Hematology  

    Human leukocyte antigen (HLA) mismatched unrelated donor transplantation is associated with an increased risk of graft-versus-host disease, graft failure, and infection, which increases post-transplant morbidity and mortality. In this single-center retrospective study, outcomes were evaluated in 30 consecutive children who underwent bone marrow transplantation (BMT) from HLA 1 allele-mismatched (HLA 7/8-matched) unrelated donors with rabbit anti-thymocyte globulin (rATG) as graft-versus-host disease (GVHD) prophylaxis. The 3-year overall survival (OS), event-free survival (EFS), and GVHD-relapse-free survival rates were 91.7% (95% CI 70.5%–91.9%), 88.3% (95% CI 67.5%–96.1%), and 73.9% (95% CI 52.4%–86.8%), respectively. Grade II–IV and III–IV acute GVHD occurred in 10 (33%) and 2 (7.0%) patients, respectively. The 3-year cumulative incidence of chronic GVHD was 7.8%. No fatal viral infections occurred. The study results show the feasibility of HLA 7/8-matched unrelated BMT with ATG to achieve favorable outcomes and acceptable GVHD, especially for patients who lack a fully matched donor.

    DOI: 10.1007/s12185-023-03571-5

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  15. Germline and somatic <i>RUNX1</i> variants in a pediatric bone marrow failure cohort

    Yamamori, A; Hamada, M; Muramatsu, H; Wakamatsu, M; Hama, A; Narita, A; Tsumura, Y; Yoshida, T; Doi, T; Terada, K; Higa, T; Yamamoto, N; Miura, H; Shiota, M; Watanabe, K; Yoshida, N; Maemura, R; Imaya, M; Miwata, S; Narita, K; Kataoka, S; Taniguchi, R; Suzuki, K; Kawashima, N; Nishio, N; Iwafuchi, H; Ito, M; Kojima, S; Okuno, Y; Takahashi, Y

    AMERICAN JOURNAL OF HEMATOLOGY   98 巻 ( 5 ) 頁: E102 - E105   2023年5月

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    記述言語:英語   出版者・発行元:American Journal of Hematology  

    DOI: 10.1002/ajh.26874

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  16. CHIMERIC ANTIGEN RECEPTOR T-CELL THERAPY FOLLOWED BY UR-BMT IN TYROSINE KINASE INHIBITOR RESISTANT PEDIATRIC PH1-POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA

    Imaya, M; Narita, A; Nishio, N; Wakamatsu, M; Taniguchi, R; Kataoka, S; Muramatsu, H; Ichikawa, D; Maeda, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  17. TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan

    Wakamatsu, M; Kojima, D; Muramatsu, H; Okuno, Y; Kataoka, S; Nakamura, F; Sakai, Y; Tsuge, I; Ito, T; Ueda, K; Saito, A; Morihana, E; Ito, Y; Ohashi, N; Tanaka, M; Tanaka, T; Kojima, S; Nakajima, Y; Ito, T; Takahashi, Y

    JOURNAL OF CLINICAL IMMUNOLOGY   42 巻 ( 8 ) 頁: 1696 - 1707   2022年11月

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    記述言語:英語   出版者・発行元:Journal of Clinical Immunology  

    Purpose: The aim of this study is to evaluate the usefulness of T cell receptor excision circle (TREC) and/or kappa-deleting recombination excision circle (KREC) measurements integrated with diagnostic next-generation sequencing (NGS) analysis using a severe combined immunodeficiency (SCID) newborn screening (NBS) program. Methods: TREC and/or KREC values were measured in 137,484 newborns between April 2017 and December 2021 using EnLite TREC (n = 80,791) or TREC/KREC kits (n = 56,693). For newborns with positive screening results, diagnostic NGS analysis was performed with a 349-gene panel to detect genetic mutations associated with primary immunodeficiencies (PIDs). Results: A total of 145 newborns (0.11%) had abnormal TREC and/or KREC values, and a genetic diagnosis was established in 2 patients with SCID (1 in 68,742 newborns) (IL2RG-SCID and reticular dysgenesis) and 10 with non-SCID PIDs with T and/or B cell deficiencies (1 in 13,748 newborns) using NGS analysis. Furthermore, TREC values of 2849 newborns were measured and confirmed the significant correlation between the results of both TREC and TREC/KREC kits (P < 0.001) and naïve T cell counts. Conclusions: We performed the first large-scale TREC and TREC/KREC NBS programs in Japan. Our NBS programs followed by the diagnostic NGS analysis for newborns with abnormal TREC and/or KREC values are useful for the early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs.

    DOI: 10.1007/s10875-022-01335-0

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  18. TREATMENT-RELATED TOXICITY OF ANTI-GD2 ANTIBODY IMMUNOTHERAPY AFTER ALLOGENEIC STEM CELL TRANSPLANTATION IN HIGH-RISK NEUROBLASTOMA PATIENTS

    Kataoka, S; Yamamori, A; Imaya, M; Wakamatsu, M; Narita, K; Taniguchi, R; Narita, A; Muramatsu, H; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  19. THREE CASES OF ABNORMAL TREC VALUES WITH COPY NUMBER ALTERATIONS IDENTIFIED IN SCID NEWBORN SCREENING PROGRAM

    Wakamatsu, M; Muramatsu, H; Kojima, D; Okuno, Y; Kataoka, S; Nakamura, T; Sakai, Y; Nakajima, Y; Ito, T; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  20. THE DISAPPEARANCE OF MINIMAL RESIDUAL DISEASE IN BONE MARROW DEMONSTRATES GRAFT VERSUS NEUROBLASTOMA EFFECT AFTER KIR-LIGAND MISMATCHED ALLOGENEIC CBT

    Alahmadi, R; Nishio, N; Wakamatsu, M; Kataoka, S; Narita, K; Taniguchi, R; Narita, A; Muramatsu, H; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  21. RISK FACTORS FOR BLOOD STREAM INFECTIONS AFTER ALLOGENEIC HEMATOPOIETIC CELL TRANSPLANTATION IN CHILDREN

    Sajiki, D; Muramatsu, H; Wakamatsu, M; Narita, K; Kataoka, S; Taniguchi, R; Narita, A; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  22. INFANT WITH NEUROBLASTOMA STAGE 4S REQUIRING LIVING DONOR LIVER TRANSPLANTATION

    Yamamori, A; Muramatsu, H; Wakamatsu, M; Kataoka, S; Tsuyuki, Y; Nishio, N; Shimoyama, Y; Karube, K; Ogura, Y; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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  23. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

    Narita, K; Muramatsu, H; Narumi, S; Nakamura, Y; Okuno, Y; Suzuki, K; Hamada, M; Yamaguchi, N; Suzuki, A; Nishio, Y; Shiraki, A; Yamamori, A; Tsumura, Y; Sawamura, F; Kawaguchi, M; Wakamatsu, M; Kataoka, S; Kato, K; Asada, H; Kubota, T; Muramatsu, Y; Kidokoro, H; Natsume, J; Mizuno, S; Nakata, T; Inagaki, H; Ishihara, N; Yonekawa, T; Okumura, A; Ogi, T; Kojima, S; Kaname, T; Hasegawa, T; Saitoh, S; Takahashi, Y

    SCIENTIFIC REPORTS   12 巻 ( 1 ) 頁: 14589   2022年8月

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    記述言語:英語   出版者・発行元:Scientific Reports  

    Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TOKAI-IRUD). This study included only patients who had not previously received genome-wide testing. Review meetings with specialists in various medical fields were held to evaluate the genetic diagnosis in each case, which was based on the guidelines of the American College of Medical Genetics and Genomics. WES identified diagnostic single-nucleotide variants in 66 patients and copy number variants (CNVs) in 11 patients. Additionally, a patient was diagnosed with Angelman syndrome with a complex clinical phenotype upon detection of a paternally derived uniparental disomy (UPD) [upd(15)pat] wherein the patient carried a homozygous DUOX2 p.E520D variant in the UPD region. Functional analysis confirmed that this DUOX2 variant was a loss-of-function missense substitution and the primary cause of congenital hypothyroidism. A significantly higher proportion of genetic diagnoses was achieved compared to previous reports (44%, 78/177 vs. 24–35%, respectively), probably due to detailed discussions and the higher rate of CNV detection.

    DOI: 10.1038/s41598-022-14161-6

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  24. Clinical Impact of Melphalan Pharmacokinetics on Transplantation Outcomes in Children Undergoing Hematopoietic Stem Cell Transplantation

    Maemura, R; Wakamatsu, M; Matsumoto, K; Sakaguchi, H; Yoshida, N; Hama, A; Yoshida, T; Miwata, S; Kitazawa, H; Narita, K; Kataoka, S; Ichikawa, D; Hamada, M; Taniguchi, R; Suzuki, K; Kawashima, N; Nishikawa, E; Narita, A; Okuno, Y; Nishio, N; Kato, K; Kojima, S; Morita, K; Muramatsu, H; Takahashi, Y

    CELL TRANSPLANTATION   31 巻   頁: 9636897221143364   2022年

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    記述言語:英語   出版者・発行元:Cell Transplantation  

    Melphalan is widely used for hematopoietic stem cell transplantation (HSCT) conditioning. However, the relationship between its pharmacokinetic (PK) and transplantation outcomes in children has not been thoroughly investigated. We prospectively analyzed the relationship between melphalan area under the curve (AUC) and transplantation outcome and examined the development of a predictive model for melphalan clearance in children. This study included 43 children aged 0 to 19 years who underwent HSCT following a melphalan-based conditioning regimen from 2017 to 2021. In univariable analysis, high-melphalan AUC resulted in a significantly lower cumulative incidence of acute graft-versus-host disease and a higher cumulative incidence of thrombotic microangiopathy, although no significant difference was observed in survival. Regression analysis of a randomly selected derivation cohort (n = 21) revealed the following covariate PK model: predicted melphalan clearance (mL/min) = 6.47 × 24-h urinary creatinine excretion rate (CER, g/day) × 24-h creatinine clearance rate (CCR, mL/min) + 92.8. In the validation cohort (n = 22), the measured melphalan clearance values were significantly correlated with those calculated based on the prediction equation (R2 = 0.663). These results indicate that melphalan exposure may be optimized by adjusting the melphalan dose according to CER and CCR.

    DOI: 10.1177/09636897221143364

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

    Kitazawa, H; Okuno, Y; Muramatsu, H; Aoki, K; Murakami, N; Wakamatsu, M; Suzuki, K; Narita, K; Kataoka, S; Ichikawa, D; Hamada, M; Taniguchi, R; Kawashima, N; Nishikawa, E; Narita, A; Nishio, N; Hama, A; Loh, ML; Stieglitz, E; Kojima, S; Takahashi, Y

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

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    記述言語:英語   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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  26. Using Chemotherapy to Treat Neuroblastoma Stage 4S with Hepatomegaly in a Patient Younger than 2 Months Old

    Imaya, M; Nishio, N; Taniguchi, R; Kataoka, S; Hamada, M; Nishikawa, E; Kawashima, N; Narita, A; Muramatsu, H; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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  27. Urinary Biomarkers Predicting Treatment Outcomes in Neuroblastoma

    Narita, A; Hinoki, A; Yokota, K; Hamada, M; Kataoka, S; Kawashima, N; Muramatsu, H; Nishio, N; Uchida, H; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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

    Yamamori, A; Hamada, M; Muramatsu, H; Taniguchi, R; Kataoka, S; Kawashima, N; Narita, A; Nishio, N; Okuno, Y; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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

    Maemura, R; Narita, A; Kataoka, S; Taniguchi, R; Hamada, M; Nishikawa, E; Kawashima, N; Nishio, N; Muramatsu, H; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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

    Kawashima, N; Kataoka, S; Hamada, M; Nishikawa, E; Taniguchi, R; Narita, A; Muramatsu, H; Nishio, N; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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

    Kataoka, S; Nishio, N; Wakamatsu, M; Taniguchi, R; Nishikawa, E; Hamada, M; Kawashima, N; Narita, A; Muramatsu, H; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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  32. A Case of Severe Combined Immunodeficiency found in Newborn Screening for Primary Immunodeficiency in Aichi Prefecture

    Yamashita, D; Wakamatsu, M; Muramatsu, H; Kojima, D; Kataoka, S; Okuno, Y; Nakamura, F; Sakai, Y; Ito, T; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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  33. A Case of FOXN1-SCID Identified by TREC/KREC Newborn Screening Program

    Wakamatsu, M; Kojima, D; Muramatsu, H; Okuno, Y; Kataoka, S; Nakamura, T; Sakai, Y; Nakajima, Y; Ito, T; Takahashi, Y

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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

    Kataoka, S; Kawashima, N; Okuno, Y; Muramatsu, H; Miwata, S; Narita, K; Hamada, M; Murakami, N; Taniguchi, R; Ichikawa, D; Kitazawa, H; Suzuki, K; Nishikawa, E; Narita, A; Nishio, N; Yamamoto, H; Fukasawa, Y; Kato, T; Yamamoto, H; Natsume, J; Kojima, S; Nishino, I; Taketani, T; Ohnishi, H; Takahashi, Y

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

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    記述言語:英語   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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  35. Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas

    Ichikawa, D; Yamashita, K; Okuno, Y; Muramatsu, H; Murakami, N; Suzuki, K; Kojima, D; Kataoka, S; Hamada, M; Taniguchi, R; Nishikawa, E; Kawashima, N; Narita, A; Nishio, N; Hama, A; Kasai, K; Mizuno, S; Shimoyama, Y; Nakaguro, M; Okita, H; Kojima, S; Nakazawa, A; Takahashi, Y

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

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    記述言語:英語   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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  36. Detection of subclonal <i>SETBP1</i> and <i>JAK3</i> 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:英語   出版者・発行元:Leukemia  

    DOI: 10.1038/s41375-020-0817-x

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