論文・総説 - 髙木　正稔

41. Yasuko Aoyagi, Yoshihito Kano, Kohki Tohyama, Shotaro Matsudera, Yuichi Kumaki, Kenta Takahashi, Takahiro Mitsumura, Yohei Harada, Akemi Sato, Hideaki Nakamura, Eisaburo Sueoka, Naoko Aragane, Koichiro Kimura, Iichiro Onishi, Akira Takemoto, Keiichi Akahoshi, Hiroaki Ono, Toshiaki Ishikawa, Masanori Tokunaga, Tsuyoshi Nakagawa, Noriko Oshima, Reiko Nakamura, Masatoshi Takagi, Takahiro Asakage, Hiroyuki Uetake, Minoru Tanabe, Satoshi Miyake, Yusuke Kinugasa, Sadakatsu Ikeda. Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PLoS One. 2022.03; 17 (3): e0266112. ( PubMed, DOI )

42. Takaya Honda, Masayoshi Yamaoka, Yoko Mikami Terao, Daisuke Hasegawa, Tadashi Kumamoto, Masatoshi Takagi, Kenichi Yoshida, Seishi Ogawa, Hiroaki Goto, Masaharu Akiyama. Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation. Int J Hematol. 2022.01; 115 (1): 140-145. ( PubMed, DOI )

43. Teppei Ohkawa, Akira Nishimura, Kenjiro Kosaki, Yuki Aoki-Nogami, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio, Motohiro Kato, Shuki Mizutani, Masatoshi Takagi. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022.01; 67 (1): 51-54. ( PubMed, DOI )

44. Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane. Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study. Front Immunol. 2022.01; 12 784901. ( PubMed, DOI )

45. Eguchi S, Isoda T, Yamaguchi A, Takagi M. Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth. Pediatr Int. 2022.01; 64 (1): e15149. ( PubMed, DOI )

46. Ohkawa Teppei, Nishimura Akira, Kosaki Kenjiro, Aoki-Nogami Yuki, Tomizawa Daisuke, Kashimada Kenichi, Morio Tomohiro, Kato Motohiro, Mizutani Shuki, Takagi Masatoshi. Schuurs-Hoeijmakers症候群におけるPAX3/7-FOXO1融合遺伝子陰性の胞巣型横紋筋肉腫(PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome) Journal of Human Genetics. 2022.01; 67 (1): 51-54. ( 医中誌 )

47. Honda Takaya, Yamaoka Masayoshi, Mikami Terao Yoko, Hasegawa Daisuke, Kumamoto Tadashi, Takagi Masatoshi, Yoshida Kenichi, Ogawa Seishi, Goto Hiroaki, Akiyama Masaharu. フルダラビン、大量シタラビン、その後の非血縁臍帯血移植が奏効した肝脾T細胞リンパ腫(Successful treatment of hepatosplennic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation) International Journal of Hematology. 2022.01; 115 (1): 140-145. ( 医中誌 )

48. Niizato D, Isoda T, Mitsuiki N, Kaneko S, Tomomasa D, Kamiya T, Takagi M, Imai K, Kajiwara M, Shimizu M, Morio T, Kanegane H. Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Frontiers in immunology. 2022; 13 977463. ( PubMed, DOI )

49. Niizato D, Isoda T, Mitsuiki N, Kaneko S, Tomomasa D, Kamiya T, Takagi M, Imai K, Kajiwara M, Shimizu M, Morio T, Kanegane H. Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Frontiers in immunology. 2022; 13 977463. ( PubMed, DOI )

50. Shotaro Matsudera, Yoshihito Kano, Yasuko Aoyagi, Kohki Tohyama, Kenta Takahashi, Yuichi Kumaki, Takahiro Mitsumura, Koichiro Kimura, Iichiro Onishi, Akira Takemoto, Daisuke Ban, Hiroaki Ono, Atsushi Kudo, Noriko Oshima, Kei Ogino, Shun Watanabe, Yukiko Tani, Takeshi Yamaguchi, Masanobu Nakajima, Shinji Morita, Satoru Yamaguchi, Masatoshi Takagi, Toshiaki Ishikawa, Tsuyoshi Nakagawa, Kentaro Okamoto, Hiroyuki Uetake, Minoru Tanabe, Satoshi Miyake, Takashi Tsuchioka, Kazuyuki Kojima, Sadakatsu Ikeda. A Pilot Study Analyzing the Clinical Utility of Comprehensive Genomic Profiling Using Plasma Cell-Free DNA for Solid Tumor Patients in Japan (PROFILE Study). Ann Surg Oncol. 2021.12; 28 (13): 8497-8505. ( PubMed, DOI )

51. Masaki Shimizu, Asami Shimbo, Masatoshi Takagi, Katsuhide Eguchi, Masataka Ishimura, Junichi Sugita, Tomohiro Morio, Hirokazu Kanegane. Successful treatment of joint and fascial chronic graft-versus-host disease with baricitinib. Rheumatology (Oxford). 2021.12; 61 (1): e1-e3. ( PubMed, DOI )

52. Tomohiro Tago, Tomonori Suzuki, Ayako Kashimada, Masatoshi Takagi, Tomoko Mizuno. Two case reports of KBG syndrome with Dandy-Walker variant. Pediatr Int. 2021.12; 63 (12): 1530-1532. ( PubMed, DOI )

53. Tsubasa Okano, Akira Nishimura, Kento Inoue, Takuya Naruto, Shown Tokoro, Takahiro Tomoda, Takahiro Kamiya, Asami Simbo, Yuko Akutsu, Keisuke Okamoto, Tzuwen Yeh, Takeshi Isoda, Masakatsu Yanagimachi, Michiko Kajiwara, Kohsuke Imai, Hirokazu Kanegane, Masaaki Mori, Tomohiro Morio, Masatoshi Takagi. Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations. Rheumatology (Oxford). 2021.12; 60 (12): e429-e431. ( PubMed, DOI )

54. Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Takaya Moriyama, Rina Nishii, Hiroyuki Takahashi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Akitoshi Kinoshita, Moeko Hino, Toshihiko Imamura, Daisuke Hasegawa, Yozo Nakazawa, Mayuko Okuya, Harumi Kakuda, Nao Takasugi, Akiko Inoue, Kentaro Ohki, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Masashi Sanada, Nobutaka Kiyokawa, Akira Ohara, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato. NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv. 2021.12; 5 (23): 5420-5428. ( PubMed, DOI )

55. Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Motoi Yamashita, Aoi Morishita, Takahiro Tomoda, Tsubasa Okano, Akifumi Endo, Takahiro Kamiya, Masakatsu Yanagimachi, Kohsuke Imai, Hirokazu Kanegane, Masatoshi Takagi, Tomohiro Morio. Successful ruxolitinib administration for a patient with steroid-refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review. Clin Case Rep. 2021.12; 9 (12): e05242. ( PubMed, DOI )

56. Kumamoto Tadashi, Yamazaki Fumito, Nakano Yoshiko, Tamura Chieko, Tashiro Shimon, Hattori Hiroyoshi, Nakagawa Akira, Tsunematsu Yukiko, Hamashima Chisato, Terasawa Teruhiko, Katayama Takafumi, Kaneko Yasuhiko, Suzuki Shigenobu, Kawai Akira, Tajiri Tatsuro, Manabe Atsushi, Takagi Masatoshi, Miyasaka Mikiko, Nozaki Taiki, Takita Junko, Funato Michinori, Ito Michiya, Kakee Naoko, Hishiki Tomoro, Hirabayashi Shinsuke, Mori Tomoaki, Sakurai Akihiro, Fujii Katsunori, Yagata Hiroshi, Shimada Akira, Hiyama Eizou, Muramatsu Hideki, Yao Masahiro, Tsutsumi Masayoshi, Kawakubo Naonori, Yoshida Teruhiko, Nakajima Takeshi, Nakayama Yoshiko, Higuchi Akiko, Kondo Hiroko, Katayama Asako. リー・フラウメニ症候群の診療ガイドライン2019年度版ver.1.1(Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1) International Journal of Clinical Oncology. 2021.12; 26 (12): 2161-2178. ( 医中誌 )

57. Togo Tomohiro, Suzuki Tomonori, Kashimada Ayako, Takagi Masatoshi, Mizuno Tomoko. Dandy-Walker variantを呈するKBG症候群の2症例報告(Two case reports of KBG syndrome with Dandy-Walker variant) Pediatrics International. 2021.12; 63 (12): 1530-1532. ( 医中誌 )

58. Yuko Ishii, Aiko Sato-Otsubo, Junko Takita, Tomohiro Morio, Masatoshi Takagi. Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction. Pediatr Int. 2021.10; 63 (10): 1192-1197. ( PubMed, DOI )

59. Ryota Shirai, Tomoo Osumi, Aiko Sato-Otsubo, Kazuhiko Nakabayashi, Takeshi Mori, Masanori Yoshida, Kaoru Yoshida, Mika Kohri, Takashi Ishihara, Shiho Yasue, Toshihiko Imamura, Mikiya Endo, Satoshi Miyamoto, Kentaro Ohki, Masashi Sanada, Nobutaka Kiyokawa, Seishi Ogawa, Takako Yoshioka, Kenichiro Hata, Masatoshi Takagi, Motohiro Kato. Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken). 2021.09; 5 (9): e1559. ( PubMed, DOI )

60. Yoichi Tanaka, Allen Eng Juh Yeoh, Takaya Moriyama, Chi-Kong Li, Ko Kudo, Yuki Arakawa, Jassada Buaboonnam, Hui Zhang, Hsi-Che Liu, Hany Ariffin, Zhiwei Chen, Shirley K Y Kham, Rina Nishii, Daisuke Hasegawa, Junya Fujimura, Dai Keino, Kensuke Kondoh, Atsushi Sato, Takahiro Ueda, Masaki Yamamoto, Yuichi Taneyama, Moeko Hino, Masatoshi Takagi, Akira Ohara, Etsuro Ito, Katsuyoshi Koh, Hiroki Hori, Atsushi Manabe, Jun J Yang, Motohiro Kato. An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia. Haematologica. 2021.07; 106 (7): 2026-2029. ( PubMed, DOI )