Review
Biochemistry & Molecular Biology
Valentina Giudice, Chiara Cardamone, Massimo Triggiani, Carmine Selleri
Summary: Bone marrow failure (BMF) syndromes are non-malignant hematologic diseases characterized by cytopenias, with immune system dysfunction playing a central role in the pathogenesis. Pro-inflammatory cytokines are crucial in shaping immune responses and sustaining inflammation during BMF.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pediatrics
Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Summary: Transcobalamin deficiency should be considered in infants with unexplained pancytopenia and acute hemolytic crisis. A novel homozygous TCN2 mutation was identified in a patient, highlighting the importance of genetic testing in diagnosis.
Review
Oncology
Momen Nassani, Riad El Fakih, Jakob Passweg, Simone Cesaro, Hazzaa Alzahrani, Ali Alahmari, Carmem Bonfim, Raheel Iftikhar, Amal Albeihany, Constantijn Halkes, Syed Osman Ahmed, Carlo Dufour, Mahmoud Aljurf
Summary: Bone marrow failure syndromes are a diverse group of diseases that can now be better classified and treated with the help of advanced diagnostic tools and sequencing techniques. Androgens, a historical group of drugs, have been used for decades to stimulate hematopoiesis and treat bone marrow failure. However, with the availability of more effective treatment options, androgens are now less commonly used. Nonetheless, they can still be considered for bone marrow failure patients who cannot receive standard therapy. This article reviews the use of androgens in bone marrow failure patients and provides recommendations for their optimal use in the current therapeutic landscape.
FRONTIERS IN ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Elena Crisa, Paola Boggione, Maura Nicolosi, Abdurraouf Mokhtar Mahmoud, Wael Al Essa, Bassel Awikeh, Anna Aspesi, Annalisa Andorno, Renzo Boldorini, Irma Dianzani, Gianluca Gaidano, Andrea Patriarca
Summary: Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) present unique challenges in terms of prognosis and treatment, requiring early detection and hematopoietic stem cell transplantation to improve outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Michell M. Lozano M. Chinga, Alison A. A. Bertuch, Zeinab Afify, Kaylee Dollerschell, Joanne I. I. Hsu, Tami D. D. John, Emily S. S. Rao, Robert Grant Rowe, Vijay G. G. Sankaran, Akiko Shimamura, David A. A. Williams, Taizo A. A. Nakano
Summary: The MECOM gene is crucial for hematopoietic stem cell self-renewal and maintenance. Variants in this gene have been associated with various disorders, such as congenital thrombocytopenia, radioulnar synostosis, and bone marrow failure. The phenotypic spectrum of MECOM-associated syndromes continues to expand, and more pathogenic variants are being identified.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Biochemistry & Molecular Biology
Antonio G. Solimando, Carmen Palumbo, Mary Victoria Pragnell, Max Bittrich, Antonella Argentiero, Markus Krebs
Summary: In recent years, it has become evident that bone marrow failures and myeloid malignancy predisposition syndromes have a wide range of phenotypes. Diagnosis of these diseases should be considered in patients with unexplained hematopoiesis defects. Treatment of hypocellular bone marrow failure remains challenging. Exogenous stressors, immune defects, and constitutional genetic defects contribute to disease progression. Understanding the diverse phenotypes of inherited and acquired bone marrow failures and predispositions to myeloid malignancies is crucial. Exploring the pathomechanisms of bone marrow failure may lead to the discovery of new therapeutic and diagnostic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Kristen E. Schratz, Valeriya Gaysinskaya, Zoe L. Cosner, Emily A. DeBoy, Zhimin Xiang, Laura Kasch-Semenza, Liliana Florea, Pali D. Shah, Mary Armanios
Summary: The study revealed that patients with germline telomere maintenance defects exhibit diverse somatic adaptive mutations, which may alleviate the telomere crisis that promotes transformation to MDS/AML.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Zhaolong Zeng, Xiangzheng Ma, Yifan Guo, Baodong Ye, Maosheng Xu, Wei Wang
Summary: IDEAL-IQ imaging can quantify fat fraction and iron content in bone marrow, aiding in distinguishing between patients with aplastic anemia and myelodysplastic syndrome.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Oncology
Harry Lesmana, Timothy Jacobs, Michelle Boals, Nathan Gray, Sara Lewis, Juan Ding, Guolian Kang, Melvanique Hale, Mitchell Weiss, Ulrike Reiss, Winfred Wang, Marcin Wlodarski
Summary: This study evaluated the efficacy and safety of standard immunosuppressive therapy and combination therapy with eltrombopag in pediatric severe aplastic anemia patients. The results showed a higher objective response rate in the treatment group with eltrombopag added, and no significant differences in infections between the two therapies.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Pediatrics
Nicole Vogel, Markus Schmugge, Raffaele Renella, Nicolas Waespe, Heinz Hengartner
Summary: Diamond-Blackfan anemia (DBA) is a rare genetic disorder caused by mutations in ribosomal subunit genes, leading to macrocytic anemia and congenital malformations. A retrospective study of 17 pediatric DBA patients in Switzerland revealed a wide range of clinical presentations and treatment needs, with patients carrying RPL mutations showing more physical malformations and milder anemia compared to RPS mutation carriers.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Hematology
Moonjung Jung, Parinda A. Mehta, Caroline S. Jiang, Rasim O. Rosti, Gabriel Usleaman, Joel M. Correa da Rosa, Francis P. Lach, Erica Goodridge, Arleen D. Auerbach, Stella M. Davies, Agata Smogorzewska, Farid Boulad
Summary: Among siblings with Fanconi anaemia, there is significant correlation in hematological progression, while constitutional abnormalities do not show strong concordance except for kidney abnormalities and microcephaly.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Cell Biology
Ju -Pi Li, Kang-Hsi Wu, Wan-Ru Chao, Yi-Ju Lee, Shun-Fa Yang, Yu-Hua Chao
Summary: Immune-mediated hematopoietic destruction plays a major role in idiopathic severe aplastic anemia. Mesenchymal stem cells (MSCs) have important immunomodulatory functions in the bone marrow niche. Dysfunction of MSCs is believed to be a major cause of immunological changes in SAA bone marrow.
Review
Biochemistry & Molecular Biology
Xing-An Wang, Ju-Pi Li, Kang-Hsi Wu, Shun-Fa Yang, Yu-Hua Chao
Summary: Aplastic anemia is a rare but life-threatening disease characterized by low blood cell count and reduced cellularity in the bone marrow. Mesenchymal stem cell dysfunction is believed to play a role in the development of the disease. This review provides a comprehensive understanding of the involvement of mesenchymal stem cells in acquired idiopathic aplastic anemia and discusses their clinical application. The pathophysiology of the disease, properties of mesenchymal stem cells, and results of mesenchymal stem cell therapy in animal models are also described. The authors anticipate that more patients with aplastic anemia can benefit from mesenchymal stem cell therapy in the future.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Albert K. Park, Anem Waheed, Deborah A. Forst, Hanny Al-Samkari
Summary: Temozolomide-induced aplastic anemia (TIAA) is a rare but challenging complication. In this retrospective study of 34 patients with central nervous system malignancies, TIAA had a rapid onset and resulted in varying outcomes, with some patients achieving hematologic recovery and others experiencing severe complications and even death.
Article
Medicine, Research & Experimental
Hui Li, Dexiao Kong, Yi Zhao, Xia Liu, Fang Xiao, Xiaoyan Li, Jianting Hu, Yingjie Chen, Shengli Li, Baozhu Wang, Yuan Chen, Yang Jiang, Xiaoli Liu, Xiumei Feng, Yanan Guo, Xiaoli Feng, Jing Ren, Fang Wang, Ying Han, William Donelan, Lijun Yang, Dawei Xu, Dongqi Tang, Chengyun Zheng
Summary: This study investigates the therapeutic effect of irisin in an AA mouse model. The results show that irisin plays a role in the pathogenesis of AA and can protect HPSC through stimulation of proliferation and regulation of mitochondria function, providing evidence for the application of irisin in AA therapy.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Letter
Hematology
Satoshi Ichikawa, Eijiro Furukawa, Kei Saito, Noriko Fukuhara, Koichi Onodera, Yasushi Onishi, Hisayuki Yokoyama, Ryo Ichinohasama, Hideo Harigae
ANNALS OF HEMATOLOGY
(2021)
Letter
Hematology
Satoshi Ichikawa, Tohru Fujiwara, Kei Saito, Noriko Fukuhara, Hisayuki Yokoyama, Shunsuke Hatta, Koichi Onodera, Yasushi Onishi, Fumiyoshi Fujishima, Ryo Ichinohasama, Hideo Harigae
ANNALS OF HEMATOLOGY
(2021)
Article
Biophysics
Satoko Morishima, Takahiro Fukuda, Noriko Doki, Takehiko Mori, Makoto Onizuka, Toshihiro Kawakita, Chiaki Kato, Yukiyasu Ozawa, Masatsugu Tanaka, Mineo Kurokawa, Tomohiko Kamimura, Masami Inoue, Junji Tanaka, Tatsuo Ichinohe, Yoshiko Atsuta, Yasuo Morishima
Summary: This study found that specific HLAs, such as HLA-B60 and HLA-B62, are significantly associated with the risk of acute GVHD in patients undergoing allo-HSCT. HLA-B62-positive patients have a higher risk of leukemia relapse, while overall survival is not affected by these specific HLAs. The findings suggest that consideration of specific HLAs may help predict transplant outcomes.
BONE MARROW TRANSPLANTATION
(2021)
Article
Biophysics
Hisayuki Yokoyama, Junya Kanda, Yuta Kawahara, Naoyuki Uchida, Masatsugu Tanaka, Satoshi Takahashi, Makoto Onizuka, Yuma Noguchi, Yukiyasu Ozawa, Yuna Katsuoka, Shuichi Ota, Takanori Ohta, Takafumi Kimura, Yoshinobu Kanda, Tatsuo Ichinohe, Yoshiko Atsuta, Hideki Nakasone, Satoko Morishima
Summary: The study revealed that in cord blood transplantation patients, CMV reactivation has a protective effect against disease relapse when there is a KIR3DL-ligand mismatch.
BONE MARROW TRANSPLANTATION
(2021)
Article
Infectious Diseases
Koichi Onodera, Yasushi Onishi, Jun Inoue, Yuya Tanaka, Lee Yonha, Satoshi Ichikawa, Noriko Fukuhara, Hisayuki Yokoyama, Kazunori Murai, Atsushi Masamune, Hideo Harigae
Summary: This article reports the clinical course of a umbilical cord blood recipient treated with direct-acting antivirals for HCV infection before transplantation. Confirming sustained virological response before transplantation is crucial but often challenging. Further investigation is needed to clarify the optimal management of HCV infection for allogeneic HSCT recipients in the DAA era.
JOURNAL OF INFECTION AND CHEMOTHERAPY
(2021)
Letter
Hematology
Koya Ono, Yasushi Onishi, Koichi Onodera, Daigo Michimata, Eijiro Furukawa, Kazuki Sakurai, Naoya Morota, Takumi Sawada, Satoshi Ichikawa, Noriko Fukuhara, Hisayuki Yokoyama, Hirofumi Watanabe, Chie Suzuki, Hideo Harigae
ANNALS OF HEMATOLOGY
(2022)
Article
Medicine, General & Internal
Satoshi Ichikawa, Tohru Fujiwara, Kei Saito, Kazuki Sakurai, Kyoko Inokura, Noriko Fukuhara, Hisayuki Yokoyama, Koichi Onodera, Yasushi Onishi, Junichi Kameoka, Hideo Harigae
Summary: This case report discusses a patient with acute megakaryoblastic leukemia, who had previously developed a mediastinal germ cell tumor and relapsed early after allogeneic hematopoietic stem cell transplantation. However, successful treatment was achieved through salvage cord blood transplantation with reduced-intensity conditioning, leading to sustained remission and a favorable general condition. The graft-versus-leukemia effect of CBT may hold promise for refractory AMKL therapy.
Article
Oncology
Naoko Hosono, Hisayuki Yokoyama, Nobuyuki Aotsuka, Kiyoshi Ando, Hiroatsu Iida, Takayuki Ishikawa, Kensuke Usuki, Masahiro Onozawa, Masahiro Kizaki, Kohmei Kubo, Junya Kuroda, Yukio Kobayashi, Takayuki Shimizu, Shigeru Chiba, Miho Nara, Tomoko Hata, Michihiro Hidaka, Shin-Ichiro Fujiwara, Yoshinobu Maeda, Yasuyoshi Morita, Mikiko Kusano, Qiaoyang Lu, Shuichi Miyawaki, Erhan Berrak, Nahla Hasabou, Tomoki Naoe
Summary: The FLT3 inhibitor gilteritinib has shown superior overall survival in Japanese patients with FLT3(mut+) R/R AML compared to salvage chemotherapy, with fewer adverse events in the gilteritinib group after adjustment for drug exposure.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Hematology
Isamu Sugiura, Noriko Doki, Tomoko Hata, Ryuko Cho, Toshiro Ito, Youko Suehiro, Masatsugu Tanaka, Shinichi Kako, Mitsuhiro Matsuda, Hisayuki Yokoyama, Yuichi Ishikawa, Yasuhiro Taniguchi, Maki Hagihara, Yukiyasu Ozawa, Yasunori Ueda, Daiki Hirano, Toru Sakura, Masaaki Tsuji, Tsuyoshi Kamae, Hiroyuki Fujita, Nobuhiro Hiramoto, Masahiro Onoda, Shin Fujisawa, Yoshihiro Hatta, Nobuaki Dobashi, Satoshi Nishiwaki, Yoshiko Atsuta, Yukio Kobayashi, Fumihiko Hayakawa, Shigeki Ohtake, Tomoki Naoe, Yasushi Miyazaki
Summary: This study evaluated the use of dasatinib-based 2-step induction in adults with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). The results showed that this treatment approach significantly improved the 3-year event-free survival rate in these patients.
Article
Biophysics
Hisayuki Yokoyama, Masahiro Hirayama, Yoshiyuki Takahashi, Naoyuki Uchida, Masatsugu Tanaka, Makoto Onizuka, Yukiyasu Ozawa, Daishi Onai, Yuna Katsuoka, Atsushi Wake, Masashi Sawa, Hikaru Kobayashi, Yumiko Maruyama, Kazutaka Ozeki, Takafumi Kimura, Junya Kanda, Takahiro Fukuda, Yoshiko Atsuta, Seitaro Terakura, Satoko Morishima
Summary: The effects of KIR-ligand mismatch in CBT recipients vary depending on the type of GVHD prophylaxis, with mismatch exacerbating non-relapse mortality and impacting overall survival in the MMF group. HLA-C2 mismatch showed favorable effects in reducing relapse incidence and improving OS in the MTX group, while HLA-A3/A11 mismatch in the MMF group worsened NRM and OS. These findings highlight the importance of assessing KIR-ligand mismatch status in CBT patients.
BONE MARROW TRANSPLANTATION
(2021)
Article
Oncology
Yoshimitsu Shimomura, Tomotaka Sobue, Shigeki Hirabayashi, Tadakazu Kondo, Shohei Mizuno, Junya Kanda, Takahiro Fujino, Keisuke Kataoka, Naoyuki Uchida, Tetsuya Eto, Shigesaburo Miyakoshi, Masatsugu Tanaka, Toshiro Kawakita, Hisayuki Yokoyama, Noriko Doki, Kaito Harada, Atsushi Wake, Shuichi Ota, Satoru Takada, Satoshi Takahashi, Takafumi Kimura, Makoto Onizuka, Takahiro Fukuda, Yoshiko Atsuta, Masamitsu Yanada
Summary: CBT transplantation resulted in better 5-year progression-free survival compared to MRDT in patients with non-remission R/R AML, mainly due to a lower relapse rate and a higher non-relapse mortality rate in the CBT group.
Article
Biophysics
Hisayuki Yokoyama, Minoru Kanaya, Tomoki Iemura, Masahiro Hirayama, Satoshi Yamasaki, Tadakazu Kondo, Naoyuki Uchida, Satoshi Takahashi, Masatsugu Tanaka, Makoto Onizuka, Yukiyasu Ozawa, Yasuji Kozai, Tetsuya Eto, Yasuhiro Sugio, Atsushi Hamamura, Toshiro Kawakita, Nobuyuki Aotsuka, Satoru Takada, Atsushi Wake, Takafumi Kimura, Tatsuo Ichinohe, Yoshiko Atsuta, Masamitsu Yanada, Satoko Morishima
Summary: KIR-ligand mismatch may have a positive impact on cord blood transplantation outcomes in acute myeloid leukemia (AML) patients, particularly when using calcineurin inhibitor plus methotrexate (CNI/MTX) for graft-versus-host disease (GVHD) prophylaxis. However, this effect was not observed in patients with other KIR-ligand mismatch types or those using CNI/mofetil (MMF) for GVHD prophylaxis.
BONE MARROW TRANSPLANTATION
(2022)
Article
Hematology
Yasushi Onishi, Koichi Onodera, Noriko Fukuhara, Hiroki Kato, Satoshi Ichikawa, Tohru Fujiwara, Hisayuki Yokoyama, Minami Yamada-Fujiwara, Hideo Harigae
Summary: Unrelated cord blood transplantation (UCBT) may be a promising treatment option for adult-onset EBV-T/NK-LPDs, but for CAEBV patients, there is a higher risk of graft failure.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2022)
Article
Mathematical & Computational Biology
Yuji Okamoto, Mitsuhito Hirano, Kai Morino, Masashi K. Kajita, Shinji Nakaoka, Mayuko Tsuda, Kei-ji Sugimoto, Shigehisa Tamaki, Junichi Hisatake, Hisayuki Yokoyama, Tadahiko Igarashi, Atsushi Shinagawa, Takeaki Sugawara, Satoru Hara, Kazuhisa Fujikawa, Seiichi Shimizu, Toshiaki Yujiri, Hisashi Wakita, Kaichi Nishiwaki, Arinobu Tojo, Kazuyuki Aihara
Summary: This study successfully classified CML patients with different nilotinib responses by using a dynamical model and laboratory findings. A method was proposed to identify patients who failed to achieve a treatment goal based on data collected at three initial time points only.
NPJ SYSTEMS BIOLOGY AND APPLICATIONS
(2022)
Article
Hematology
Satoshi Ichikawa, Noriko Fukuhara, Tsuyoshi Doman, Daichi Kiba, Yuya Tanaka, Kyoko Inokura, Naoya Morota, Koya Ono, Koichi Onodera, Yasushi Onishi, Hisayuki Yokoyama, Ryo Ichinohasama, Hideo Harigae
Summary: This case report presents a rare presentation of T-lymphoblastic leukemia/lymphoma (T-ALL/LBL), where the patient initially showed only central nervous system infiltration without leukemic symptoms. It emphasizes the importance of recognizing this exceptional presentation to avoid delayed diagnosis and treatment.
JOURNAL OF HEMATOPATHOLOGY
(2022)