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Whole Exome Sequencing Shows a Paucity Of Somatic Gene Mutations In Pediatric Idiopathic Bone Marrow Failure Syndrome

BLOOD 2013年第21期122卷 3708-3708页

作者： Narita, Atsushi Muramatsu, Hideki Yoshida, Kenichi Okuno, Yusuke Hama, Asahito Wang, Xinan Xu, Yinyan Kawashima, Nozomu Sakaguchi, Hirotoshi Doisaki, Sayoko Takahashi, Yoshiyuki Shiraishi, Yuichi Chiba, Kenichi Tanaka, Hiroko Miyano, Satoru Ogawa, Seishi Kojima, Seiji Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Pathology and Tumor biology Kyoto University Kyoto Japan

3708

来源：评论

Molecular Characterization Of Adult T-Cell Leukemia/Lymphoma

引用

BLOOD 2013年第21期122卷 1766-1766页

作者： Nagata, Yasunobu Kitanaka, Akira Sanada, Masashi Sato, Aiko Okuno, Yusuke Shiraishi, Yuichi Chiba, Kenichi Tanaka, Hiroko Yoshizato, Tetsuichi Kon, Ayana Yoshida, Kenichi Ishiyama, Ken Miyawaki, Shuichi Miyano, Satoru Shimoda, Kazuya Ogawa, Seishi Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Division of Gastroenterology and Hematology Department of Internal Medicine Faculty of Medicine Miyazaki University Miyazaki Japan Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Division of Hematology Department of Internal Medicine Tokyo Metropolitan Ohtsuka Hospital Tokyo Japan

1766

来源：评论

Whole Exome analysis Of Germline Alterations Associated With Myelodysplastic Syndrome

引用

BLOOD 2013年第21期122卷 2800-2800页

作者： McMahon, Sarah Przychodzen, Bartlomiej P. Makishima, Hideki LaFramboise, Thomas Yoshida, Kenichi Shiraishi, Yuichi Sanada, Masashi Nagata, Yasunobu Sato, Yusuke Chiba, Kenichi Tanaka, Hiroko Miyano, Satoru Sato-Otsubo, Aiko Ogawa, Seishi Maciejewski, Jaroslaw P. Translational Hematology and Oncology Research Taussig Cancer Institute Cleveland Clinic Cleveland OH USA Translational Hematology and Oncology Research Cleveland Clinic Taussig Cancer Institute Cleveland OH USA Translational Hematology and Oncology Research Cleveland Clinic Taussig Cancer Institute Cleveland OH USA Case Western Reserve University Cleveland OH USA Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Laboratory of Sequence Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Pathology and Tumor biology Kyoto University Kyoto Japan Translational Hematology and Oncology Department Cleveland Clinic Taussig Cancer Institute Cleveland OH USA

2800

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Spectrum Of Genetic Alterations In Acquired Aplastic Anemia

引用

BLOOD 2013年第21期122卷 2464-2464页

作者： Yoshizato, Tetsuichi Dumitriu, Bogdan Hosokawa, Kohei Makishima, Hideki Yoshida, Kenichi Okuno, Yusuke Chiba, Kenichi Tanaka, Hiroko Shiraishi, Yuichi Nagata, Yasunobu Katagiri, Takamasa Kon, Ayana Clemente, Michael J. Sanada, Masashi Miyano, Satoru Maciejewski, Jaroslaw P. Nakao, Shinji Young, Neal S. Ogawa, Seishi Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Hematology Branch National Heart Lung and Blood Institute National Institutes of Health Bethesda MD USA Cellular Transplantation Biology Kanazawa University Graduate School of Medical Science Kanazawa Japan Translational Hematology and Oncology Research Cleveland Clinic Taussig Cancer Institute Cleveland OH USA Depertment of Pediatrics Graduate School of Medecine Nagoya University Nagoya Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Translational Hematology and Oncology Department Cleveland Clinic Taussig Cancer Institute Cleveland OH USA

2464

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Clinical and Genetic Characterization Of Patients With C-CBL Mutated Juvenile Myelomonocytic Leukemia By Whole-Exome/Deep Sequencing

引用

BLOOD 2013年第21期122卷 1564-1564页

作者： Muramatsu, Hideki Sakaguchi, Hirotoshi Wang, Xinan Yoshida, Kenichi Okuno, Yusuke Sanada, Masashi Xu, Yinyan Doisaki, Sayoko Narita, Atsushi Kawashima, Nozomu Hama, Asahito Takahashi, Yoshiyuki Yoshida, Nao Shiraishi, Yuichi Chiba, Kenichi Tanaka, Hiroko Makishima, Hideki Maciejewski, Jaroslaw P. Miyano, Satoru Ogawa, Seishi Kojima, Seiji Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Division of Hematology and Oncology Children's Medical Center Japanese Red Cross Nagoya First Hospital Nagoya Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Translational Hematology and Oncology Research Cleveland Clinic Taussig Cancer Institute Cleveland OH USA Translational Hematology and Oncology Department Cleveland Clinic Taussig Cancer Institute Cleveland OH USA

1565

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Molecular Defects In BRCC3 Complex, a Novel Pathogenic Pathway In MDS

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BLOOD 2013年第21期122卷 264-264页

作者： Huang, Dayong Makishima, Hideki Du, Yang Hosono, Naoko Shen, Wenyi Polprasert, Chantana Sekeres, Mikkael A. Przychodzen, Bartlomiej Padgett, Richard A. Singh, Jarnail Guinta, Kathryn M. Clemente, Michael J. Dienes, Brittney Afable, Manuel Husseinzadeh, Holleh D. Mcmahon, Sarah Saunthararajah, Yogen Yoshida, Kenichi Shiraishi, Yuichi Chiba, Kenichi Tanaka, Hiroko Miyano, Satoru Ogawa, Seishi Maciejewski, Jaroslaw P. Translational Hematology and Oncology Research Taussig Cancer Institute Cleveland Clinic Cleveland OH USA Translational Hematology and Oncology Research Cleveland Clinic Taussig Cancer Institute Cleveland OH USA Department of Pediatrics Uniformed Services University of the Health Sciences Bethesda MD USA Department of Translational Hematology and Oncology Research Taussig Cancer Institute Cleveland Clinic Cleveland OH USA Leukemia Program Taussig Cancer Institute Cleveland Clinic Cleveland OH USA Molecular Genetics Lerner Research Institute Cleveland Clinic Cleveland OH USA Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan

264

来源：评论

A Novel Diagnostic Method For AITL By Detecting RHOA G17V Hotspot Mutation Using Allele-Specific Real-Time PCR

引用

BLOOD 2013年第21期122卷 3000-3000页

作者： Nakamoto-Matsubara, Rie Sakata-Yanagimoto, Mamiko Enami, Terukazu Yoshida, Kenichi Shiraishi, Yuichi Muto, Hideharu Kamada, Yuhei Obara, Naoshi Kurita, Naoki Seki, Masanori Yokoyama, Yasuhisa Noguchi, Emiko Izutsu, Koji Ota, Yasunori Sanada, Masashi Chiba, Kenichi Tanaka, Hiroko Shimizu, Seiichi Komeno, Takuya Satou, Yuji Itoh, Takayoshi Suzukawa, Kazumi Hasegawa, Yuichi Takeuchi, Kengo Miyano, Satoru Nakamura, Naoya Ogawa, Seishi Chiba, Shigeru Department of Hematology Faculty of Medicine University of Tsukuba Tsukuba Japan Department of Pathology and Tumor biology Kyoto University Kyoto Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Medical Genetics Faculty of Medicine University of Tsukuba Tsukuba Japan Department of Hematology Toranomon Hospital Tokyo Japan Department of Pathology Toranomon Hospital Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Hematology Tsuchiura Kyodo General Hospital Tsuchiura Japan Department of Hematology National Hospital Organization Mito Medical Center Higashiibarakigun Japan Department of Hematology Tsukuba Memorial Hospital Tsukuba Japan Department of Hematology JA TORIDE MEDICAL CENTER Toride Japan Department of Pathology Cancer Institute of Japanese Foundation for Cancer Research Tokyo Japan Department of pathology Tokai University School of Medicine Isehara Japan

3000

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NGS-Based Copy Number analysis in 1,185 Patients with Myeloid Neoplasms

引用

BLOOD 2016年第22期128卷 955-955页

作者： Saiki, Ryunosuke Shiozawa, Yusuke Yoshizato, Tetsuichi Yoshida, Kenichi Shiraishi, Yuichi Tanaka, Hiroko Chiba, Kenichi Atsuta, Yoshiko Onizuka, Makoto Itonaga, Hidehiro Kanda, Yoshinobu Sekeres, Mikkael A. Guinta, Kathryn M. Miyawaki, Shuichi Nakamaki, Tsuyoshi Chiba, Shigeru Shih, Lee-Yung Miyazaki, Yasushi Miyano, Satoru Makishima, Hideki Maciejewski, Jaroslaw P. Ogawa, Seishi Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Department of Pediatrics Graduate School of Medicine The University of Tokyo Tokyo Japan Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of DNA information Analysis & Laboratory of Sequence Analysis Human Genome Center The University of Tokyo Tokyo Japan Japanese Data Center for Hematopoietic Cell Transplantation Nagoya Japan Nagoya University Graduate School of Medicine Nagoya Japan Department of Hematology and Oncology Tokai University School of Medicine Isehara Japan Department of Hematology Atomic Bomb Disease and Hibakusha Medicine Unit Atomic Bomb Disease Institute Nagasaki University Nagasaki Japan Division of Hematology Saitama Medical Center Jichi Medical University Saitama Japan Department of Translational Hematology and Oncology Research Taussig Cancer Institute Cleveland Clinic Cleveland OH Leukemia Program Department of Hematology and Medical Oncology Cleveland Clinic Cleveland OH Division of Hematology Tokyo Metropolitan Ohtsuka Hospital Tokyo Japan Department of Hematology Showa University School of Medicine Tokyo Japan Department of Hematology Faculty of Medicine University of Tsukuba Tsukuba Japan Division of Hematology-Oncology Department of Internal Medicine Chang Gung Memorial Hospital Chang Gung University Taoyuan Taiwan

955

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Somatic G17V Rhoa Mutation Specifies Angioimmunoblastic T-Cell Lymphoma

引用

BLOOD 2013年第21期122卷 815-815页

作者： Sakata-Yanagimoto, Mamiko Enami, Terukazu Yoshida, Kenichi Shiraishi, Yuichi Ishii, Ryohei Miyake, Yasuyuki Muto, Hideharu Tsuyama, Naoko Okuno, Yusuke Sakata, Seiji Kamada, Yuhei Nakamoto-Matsubara, Rie Tran Nguyen Izutsu, Koji Ohta, Yasunori Furuta, Junichi Shimizu, Seiichi Komeno, Takuya Sato, Yuji Ito, Takayoshi Noguchi, Masayuki Noguchi, Emiko Sanada, Masashi Chiba, Kenichi Tanaka, Hiroko Suzukawa, Kazumi Nanmoku, Toru Hasegawa, Yuichi Nureki, Osamu Miyano, Satoru Nakamura, Naoya Takeuchi, Kengo Ogawa, Seishi Chiba, Shigeru Department of Hematology Faculty of Medicine University of Tsukuba Tsukuba Japan Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Biophysics and Biochemistry The University of Tokyo Tokyo Japan Pathology Project for Molecular Targets The Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo Japan Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Department of Hematology Toranomon Hospital Tokyo Japan Department of Pathology Toranomon Hospital Tokyo Japan Department ot Dermatology Faculty of Medicine University of Tsukuba Tsukuba Japan Department of Hematology Tsuchiura Kyodo General Hospital Tsuchiura Japan Department of Hematology National Hospital Organization Mito Medical Center Mito Japan Tsukuba Memorial Hospital Tsukuba Japan Department of Hematology JA Toride Medical Center Toride Japan Department of Pathology Faculty of Medicine University of Tsukuba Tsukuba Japan Department of Medical Genetics Faculty of Medicine University of Tsukuba Tsukuba Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Clinical Laboratory University of Tsukuba Hospital Tsukuba Japan Department of Pathology Tokai University School of Medicine Isehara Japan Pathology Project for Molecular Targets The Cancer Institutue Hospital Japanese Foundation for Cancer Reserach Tokyo Japan

815

来源：评论

Genetic Landscapes Of Childhood T-Cell Acute Lymphoblastic Leukemia

引用

Blood 2013年第21期122卷 3786-3786页

作者： Masafumi Seki Kenichi Yoshida Yusuke Sato Yuichi Shiraishi Kenichi Chiba Hiroko Tanaka Motohiro Kato Mitsuteru Hiwatari Katsuyoshi Koh Ryoji Hanada Masashi Sanada Satoru Miyano Akira Oka Yasuhide Hayashi Seishi Ogawa Junko Takita Department of Pediatrics Graduate School of Medicine The University of Tokyo Tokyo Japan Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan Cancer Genomics Project Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory of DNA Information Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Laboratory of Sequence Data Analysis Human Genome Center Institute of Medical Science The University of Tokyo Tokyo Japan Department of Hematology/Oncology Saitama Children's Medical Center Saitama Japan Department of Hematology/Oncology Gunma Children's Medical Center Shibukawa Japan

T-cell acute lymphoblastic leukemia (T-ALL) accounts for 10% to 15% of newly diagnosed cases of childhood acute lymphoblastic leukemia (ALL). Generally, childhood T-ALL patients have a worse prognosis than B cell prec...

T-cell acute lymphoblastic leukemia (T-ALL) accounts for 10% to 15% of newly diagnosed cases of childhood acute lymphoblastic leukemia (ALL). Generally, childhood T-ALL patients have a worse prognosis than B cell precursor ALL patients. Recent studies have identified a subtype of T-ALL termed “early T-cell precursor” (ETP) ALL, which is associated with a high risk of treatment failure. In spite of recent improvements of risk stratified multiagent chemotherapy, relapsed patients have a poor prognosis even if they were non-ETP ALL. Recent genome-wide approach revealed frequent NOTCH1 and FBXW7 oncogenic mutations mutations in T-ALL. In addition, previous whole-exome sequencing disclosed novel CNOT3 mutations in approximately 10% of adult T-ALL cases, and thus, CNOT3 was thought to be one of the novel tumor suppressor gene for adult T-ALL. CNOT3 is part of the CCR4-NOT complex that is the major deadenylase of mRNA. NT5C2 , encoding a 5ʹ-nucleotidase was identified as relapse specific mutation, of which mutation is associated with the outgrowth of drug-resistant clones in ALL. However, these mutations have been found in a fraction of childhood T-ALL suggests that the existence of other genetic pathogenesis. To discover new oncogenic gene mutations which involved in the pathogenesis of relapsed T-ALL and to identify novel prognostic markers of childhood T-ALL, we performed genome-wide analysis using whole-exome sequencing and 250K SNP array analyses in 8 cases with relapsed T-ALL and 16 cases with non-relapsed T-ALL. The mean coverage in the whole-exome sequencing of tumor and germline samples was 108× and 100× for the 50-Mb target regions, respectively, by which more than 90% of the coding sequences were represented by more than 20 independent reads on average. A mean of nonsilent mutations per sample at presentation was 18, and sample at 1st relapsed was 19. There were only 16 recurrent mutations in 24 cases; however no shared mutation in 8 relapsed cases other than NO

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