2023/04/15 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 24

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

    Hamada Motoharu, Muramatsu Hideki, Torii Yuka, Suzuki Kyogo, Narita Atsushi, Yoshida Taro, Imaya Masayuki, Yamamori Ayako, Wakamatsu Manabu, Miwata Shunsuke, Narita Kotaro, Kataoka Shinsuke, Kawashima Nozomu, Taniguchi Rieko, Nishikawa Eri, Nishio Nobuhiro, Ito Yoshinori, Kojima Seiji, Takahashi Yoshiyuki

    INTERNATIONAL JOURNAL OF HEMATOLOGY     2023年3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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  2. Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort

    Yamamori Ayako, Hamada Motoharu, Muramatsu Hideki, Wakamatsu Manabu, Hama Asahito, Narita Atsushi, Tsumura Yusuke, Yoshida Taro, Doi Takehiko, Terada Kazuki, Higa Takeshi, Yamamoto Nobuyuki, Miura Hiroki, Shiota Mitsutaka, Watanabe Kenichiro, Yoshida Nao, Maemura Ryo, Imaya Masayuki, Miwata Shunsuke, Narita Kotaro, Kataoka Shinsuke, Taniguchi Rieko, Suzuki Kyogo, Kawashima Nozomu, Nishio Nobuhiro, Iwafuchi Hideto, Ito Masafumi, Kojima Seiji, Okuno Yusuke, Takahashi Yoshiyuki

    AMERICAN JOURNAL OF HEMATOLOGY   98 巻 ( 5 ) 頁: E102 - E105   2023年2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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  3. Current Status and Issues of the Japan Oncofertility Registry

    Shigematsu Kosuke, Shimizu Chikako, Furui Tatsuro, Kataoka Shinsuke, Kawai Kiyotaka, Kishida Toru, Kuwahara Akira, Maeda Naoko, Makino Azumi, Mizunuma Naoki, Morishige Ken-ichirou, Nakajima Takako Eguchi, Ota Kuniaki, Ono Masanori, Shiga Naomi, Tada Yuma, Takae Seido, Tamura Nobuko, Watanabe Chie, Yumura Yasushi, Suzuki Nao, Takai Yasushi

    JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY     2022年12月

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

    Imaya Masayuki, Narita Atsushi, Nishio Nobuhiro, Wakamatsu Manabu, Taniguchi Rieko, Kataoka Shinsuke, Muramatsu Hideki, Ichikawa Daisuke, Maeda Naoko, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Wakamatsu Manabu, Kojima Daiei, Muramatsu Hideki, Okuno Yusuke, Kataoka Shinsuke, Nakamura Fumiko, Sakai Yoshimi, Tsuge Ikuya, Ito Tsuyoshi, Ueda Kazuto, Saito Akiko, Morihana Eiji, Ito Yasuhiko, Ohashi Naoki, Tanaka Makito, Tanaka Taihei, Kojima Seiji, Nakajima Yoko, Ito Tetsuya, Takahashi Yoshiyuki

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

    Kataoka Shinsuke, Yamamori Ayako, Imaya Masayuki, Wakamatsu Manabu, Narita Kotaro, Taniguchi Rieko, Narita Atsushi, Muramatsu Hideki, Nishio Nobuhiro, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Wakamatsu Manabu, Muramatsu Hideki, Kojima Daiei, Okuno Yusuke, Kataoka Shinsuke, Nakamura Tomiko, Sakai Yoshimi, Nakajima Yoko, Ito Tetsuya, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Alahmadi Rowaida, Nishio Nobuhiro, Wakamatsu Manabu, Kataoka Shinsuke, Narita Kotaro, Taniguchi Rieko, Narita Atsushi, Muramatsu Hideki, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Sajiki Daichi, Muramatsu Hideki, Wakamatsu Manabu, Narita Kotaro, Kataoka Shinsuke, Taniguchi Rieko, Narita Atsushi, Nishio Nobuhiro, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Yamamori Ayako, Muramatsu Hideki, Wakamatsu Manabu, Kataoka Shinsuke, Tsuyuki Yuta, Nishio Nobuhiro, Shimoyama Yoshie, Karube Kennosuke, Ogura Yasuhiro, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   69 巻   2022年11月

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

    Narita Kotaro, Muramatsu Hideki, Narumi Satoshi, Nakamura Yuji, Okuno Yusuke, Suzuki Kyogo, Hamada Motoharu, Yamaguchi Naoya, Suzuki Atsushi, Nishio Yosuke, Shiraki Anna, Yamamori Ayako, Tsumura Yusuke, Sawamura Fumi, Kawaguchi Masahiro, Wakamatsu Manabu, Kataoka Shinsuke, Kato Kohji, Asada Hideyuki, Kubota Tetsuo, Muramatsu Yukako, Kidokoro Hiroyuki, Natsume Jun, Mizuno Seiji, Nakata Tomohiko, Inagaki Hidehito, Ishihara Naoko, Yonekawa Takahiro, Okumura Akihisa, Ogi Tomoo, Kojima Seiji, Kaname Tadashi, Hasegawa Tomonobu, Saitoh Shinji, Takahashi Yoshiyuki

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

    Maemura Ryo, Wakamatsu Manabu, Matsumoto Kana, Sakaguchi Hirotoshi, Yoshida Nao, Hama Asahito, Yoshida Taro, Miwata Shunsuke, Kitazawa Hironobu, Narita Kotaro, Kataoka Shinsuke, Ichikawa Daisuke, Hamada Motoharu, Taniguchi Rieko, Suzuki Kyogo, Kawashima Nozomu, Nishikawa Eri, Narita Atsushi, Okuno Yusuke, Nishio Nobuhiro, Kato Koji, Kojima Seiji, Morita Kunihiko, Muramatsu Hideki, Takahashi Yoshiyuki

    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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  13. 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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  14. Urinary Biomarkers Predicting Treatment Outcomes in Neuroblastoma

    Narita Atsushi, Hinoki Akinari, Yokota Kazuki, Hamada Motoharu, Kataoka Shinsuke, Kawashima Nozomu, Muramatsu Hideki, Nishio Nobuhiro, Uchida Hiroo, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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  15. 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  

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  16. 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  

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  17. 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  

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  18. 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  

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

    Yamashita Daiki, Wakamatsu Manabu, Muramatsu Hideki, Kojima Daiei, Kataoka Shinsuke, Okuno Yusuke, Nakamura Fumiko, Sakai Yoshimi, Ito Tetsuya, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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

    Wakamatsu Manabu, Kojima Daiei, Muramatsu Hideki, Okuno Yusuke, Kataoka Shinsuke, Nakamura Tomiko, Sakai Yoshimi, Nakajima Yoko, Ito Tetsuya, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   68 巻   2021年11月

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    記述言語:日本語  

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  21. 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  

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  22. 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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  23. 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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  24. 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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