Review
Hematology
Zachariah DeFilipp, Mehrdad Hefazi, Yi-Bin Chen, Bruce R. Blazar
Summary: This article discusses the application of transplantation in the treatment of congenital or acquired nonmalignant blood diseases. Unlike patients with hematologic malignancies, the priority for nonmalignant blood disease patients is to avoid graft-versus-host disease, and emerging therapeutic methods hold promise for advancing transplantation care.
Article
Pediatrics
Mariana Munhoz da Cunha, Fellype Carvalho Barreto, Samantha Nichele, Joanna Trennepohl, Lisandro Ribeiro, Gisele Loth, Adriana Koliski, Tyane de Almeida Pinto Jardim, Adriana Mello, Ricardo Pasquini, Lucimary de Castro Sylvestre, Carmem Bonfim
Summary: Fanconi anemia (FA) is a rare disease that can lead to bone marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is the only potential cure for FA, but it may cause acute kidney injury (AKI) and hypertension. A study on FA patients who underwent HCT found that the incidence of AKI within 100 days was 18.7%, with 72% of patients developing hypertension, and CAKUT was associated with hypertension and kidney function.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Pediatrics
Tomasz Jarmolinski, Monika Rosa, Blanka Rybka, Renata Ryczan-Krawczyk, Kornelia Gajek, Katarzyna Bogunia-Kubik, Maja Klaudel-Dreszler, Piotr Czubkowski, Piotr Kalicinski, Joanna Teisseyre, Marek Stefanowicz, Ewa Gorczynska, Krzysztof Kalwak, Marek Ussowicz
Summary: A child with Fanconi anemia underwent orthotopic liver transplantation (OLT) after hematopoietic stem cell transplantation (HSCT) complicated by acute graft versus host disease (GVHD). The liver can serve as a clinically significant source of hematopoietic stem cells. Close monitoring of hematopoietic chimerism after OLT is necessary in patients at risk for complications such as GVHD.
FRONTIERS IN PEDIATRICS
(2022)
Article
Hematology
Elizabeth O. Stenger, Benjamin Watkins, Kelsey Rogowski, Kuang-Yueh Chiang, Ann Haight, Kathryn Leung, Muna Qayed, Sharmila Raghunandan, Yvonne Suessmuth, Leslie Kean, John Horan
Summary: Four doses of abatacept added to standard GVHD prophylaxis were found to be tolerable in pediatric patients with nonmalignant diseases following unrelated donor HCT, with no significant impact on immune reconstitution.
Article
Oncology
L. Murillo-Sanjuan, J. Balmana, A. de Pablo Garcia-Cuenca, J. Lorente Guerrero, M. L. Uria Oficialdegui, E. Carrasco, C. Diaz-de-Heredia
Summary: HSCT is a curative option for FA patients with hematological manifestations, but does not prevent solid tumors such as head-and-neck SCC. Long-term follow-up showed a high cumulative incidence of SCC in FA patients, highlighting the importance of multidisciplinary cancer screening programs.
CLINICAL & TRANSLATIONAL ONCOLOGY
(2022)
Article
Pediatrics
Mohammed Saud Alsaidan, Ohoud Zaid Aljarbou, Waleed Alajroush
Summary: This article reports a rare case of Kaposi sarcoma in a child after hematopoietic stem cell transplantation (HSCT). The patient developed asymptomatic nodular skin lesions, and additional lesions in the liver and oral cavity were confirmed. The patient was treated with Sirolimus and topical timolol, and the lesions completely resolved.
Article
Immunology
Yuanfeng Zhang, Xin Chen, Donglin Yang, Aiming Pang, Rongli Zhang, Qiaoling Ma, Weihua Zhai, Yi He, Jialin Wei, Erlie Jiang, Mingzhe Han, Sizhou Feng
Summary: This study conducted a retrospective cohort analysis on patients with severe aplastic anemia (SAA) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) to compare their survival between those with infection and those without infection. The study found that patients with infection before transplantation had inferior survival compared to those without infection, highlighting the importance of prophylaxis and complete control of infectious complications before transplantation among SAA patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Hematology
Kimimori Kamijo, Yoshimitsu Shimomura, Akihito Shinohara, Shohei Mizuno, Minoru Kanaya, Yoshiaki Usui, Sung-Won Kim, Takahide Ara, Ishikazu Mizuno, Takuro Kuriyama, Hideyuki Nakazawa, Ken-ichi Matsuoka, Shigeru Kusumoto, Nobuo Maseki, Masaki Yamaguchi, Takashi Ashida, Makoto Onizuka, Takahiro Fukuda, Yoshiko Atsuta, Eisei Kondo
Summary: By comparing the effects of Flu/Bu2 and Flu/Bu4 on patients with non-Hodgkin lymphoma undergoing allogeneic hematopoietic cell transplantation, the study found that Flu/Bu4 was associated with higher nonrelapse mortality and lower 5-year overall survival compared to Flu/Bu2.
ANNALS OF HEMATOLOGY
(2023)
Article
Pediatrics
Fabiana Di Stasio, Michela Bravi, Sonia Bonanomi, Adriana Balduzzi, Giulia Prunotto, Guglielmo Marco Migliorino, Carlo Dufour, Lorenzo D'Antiga, Francesca Vendemini
Summary: We report a unique case of a child with Fanconi anemia with FANCD2 mutation who developed neonatal cryptogenic liver cirrhosis and bone marrow failure. The child successfully underwent sequential liver transplantation and hematopoietic stem cell transplantation in the first 2 years of life. Nineteen months after hematopoietic stem cell transplantation and 30 months after liver transplantation, the patient is clinically well with normal hematopoietic function and excellent liver function.
PEDIATRIC TRANSPLANTATION
(2023)
Article
Immunology
Qin Zhang, Yujia Huo, Qinggang Sun, Nan Liu, Hongchuan Shi, Minghui Wang, Jinming Xiao, Hanzi Yuan, Xiangfeng Tang
Summary: Unstable hemoglobinopathies are rare diseases that disrupt hemoglobin stability, causing chronic hemolysis and anemia. Hematopoietic stem cell transplantation has been reported as a curative approach for transfusion-dependent patients with unstable hemoglobinopathies. This case report describes the successful haploidentical HSCT treatment of Hb Bristol-Alesha variant in a 6-year-old boy with severe anemia. Two years post-transplantation, the patient achieved near normal hemoglobin levels without signs of hemolysis, confirming full engraftment with normal erythropoiesis through DNA analysis.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Pediatrics
Lakshmanan Krishnamurti
Summary: Sickle cell disease is a severe inherited disorder involving abnormal red blood cells, which can be treated with hematopoietic stem cell transplantation. Different types of HCT have varying outcomes, with HLA-matched transplants showing the most promising results.
FRONTIERS IN PEDIATRICS
(2021)
Article
Medicine, Research & Experimental
Sara Fananas-Baquero, Oscar Quintana-Bustamante, Daniel P. Dever, Omaira Alberquilla, Rebeca Sanchez-Dominguez, Joab Camarena, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Rolf Turk, Mollie S. Schubert, Annalisa Lattanzi, Liwen Xu, Jose L. Lopez-Lorenzo, Paola Bianchi, Juan A. Bueren, Mark A. Behlke, Matthew Porteus, Jose-Carlos Segovia
Summary: Pyruvate kinase deficiency (PKD) is the main cause of chronic non-spherocytic hemolytic anemia, with the only curative treatment being allogeneic hematopoietic stem and progenitor cell transplant. This study demonstrates the correction of PKD through precise gene editing at the PKLR locus, providing a potential lifelong therapy for PKD patients by restoring RPK function in red blood cells.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Medicine, General & Internal
Jiayu Wang, Meng Yuan, Guanghua Zhu, Runhui Wu, Chenguang Jia, Bin Wang, Jie Zheng, Jie Ma, Maoquan Qin, Sidan Li
Summary: This study analyzed the immune reconstitution of pediatric patients with aplastic anemia after hematopoietic stem-cell transplantation (HSCT) and found that early rapid immune reconstitution is a good predictor of clinical prognosis in children with AA.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Medicine, Research & Experimental
Yuzhu Li, Yilei Hong, Yingying Shen, Qi Liu, Ying Chen, Keding Shao, Yiping Shen, Baodong Ye, Dijiong Wu
Summary: This article presents a case of acute rhabdomyolysis developing during HLA-haploidentical HSCT in a patient with hepatitis-associated aplastic anemia. Despite timely diagnosis and treatment, the patient ultimately died of multi-organ failure. Whole-exome sequencing revealed a genetic mutation. The authors suggest genetic analysis should be performed during HSCT to better understand the pathological changes of this complication.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2022)
Article
Hematology
Mouhab Ayas, Khawar Siddiqui, Abdullah Al-Jefri, Ali Al-Ahmari, Ibrahim Ghemlas, Hawazen Al-Saedi, Awatif Al-Anazi, Saadiya Khan, Hasan El-Solh, Amal Al-Seraihi
Summary: Fanconi anemia cells are associated with genomic instability and increased risk of malignancies. Mixed chimerism in FA patients post-HCT does not seem to have adverse effects on outcomes in the follow-up period. Further long-term follow-up is necessary to confirm these findings.
TRANSPLANTATION AND CELLULAR THERAPY
(2021)
Article
Infectious Diseases
Nobuyuki Tetsuka, Hideki Muramatsu, Mitsutaka Iguchi, Keisuke Oka, Hiroshi Morioka, Yoshiyuki Takahashi, Tetsuya Yagi
Summary: This article reports a case in which M. furfur was detected in the blood of a 3-year-old boy. Although the automated blood culture system showed negative results, M. furfur growth was detected in the blood taken from the central venous catheter. The infection resolved without any specific treatment, suggesting that M. furfur may not cause systemic infections in humans.
JOURNAL OF INFECTION AND CHEMOTHERAPY
(2022)
Editorial Material
Pediatrics
Fumi Sawamura, Jun Natsume, Tomohiko Nakata, Hideki Muramatsu, Yoshiyuki Takahashi
PEDIATRICS INTERNATIONAL
(2022)
Article
Oncology
Shuichi Ozono, Kazuo Sakashita, Nao Yoshida, Harumi Kakuda, Kenichiro Watanabe, Miho Maeda, Yasushi Ishida, Atsushi Manabe, Takashi Taga, Hideki Muramatsu
Summary: In this study, a questionnaire was used to investigate the late effects in survivors of allogenic hematopoietic stem cell transplantation (HSCT) for juvenile myelomonocytic leukemia (JMML). The results showed that approximately 83% of the survivors experienced more than one late effect, including endocrine, dental, skin, ophthalmologic, musculoskeletal, pulmonary, neurocognitive, and cardiovascular dysfunction. The prevalence of short stature, pulmonary, cardiovascular, and nephrological complications was significantly higher among survivors who were more than 12 years post-HSCT. Therefore, establishing a multidisciplinary follow-up system for survivors of JMML is crucial.
PEDIATRIC BLOOD & CANCER
(2023)
Letter
Hematology
Ayako Yamamori, Motoharu Hamada, Hideki Muramatsu, Manabu Wakamatsu, Asahito Hama, Atsushi Narita, Yusuke Tsumura, Taro Yoshida, Takehiko Doi, Kazuki Terada, Takeshi Higa, Nobuyuki Yamamoto, Hiroki Miura, Mitsutaka Shiota, Kenichiro Watanabe, Nao Yoshida, Ryo Maemura, Masayuki Imaya, Shunsuke Miwata, Kotaro Narita, Shinsuke Kataoka, Rieko Taniguchi, Kyogo Suzuki, Nozomu Kawashima, Nobuhiro Nishio, Hideto Iwafuchi, Masafumi Ito, Seiji Kojima, Yusuke Okuno, Yoshiyuki Takahashi
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Sosuke Arakawa, Makoto Nakao, Kazuki Sone, Shuntaro Hayashi, Masahiro Sugihara, Yuya Hirata, Mamiko Kuriyama, Norihisa Takeda, Kazuhiro Ohtakara, Yoshimi Horikawa, Hideki Muramatsu
Summary: A 77-year-old man presented with cough, pharyngeal discomfort, and weight loss for 1 month. Chest radiography showed a mass shadow in the right upper lung field. Bronchoscopy revealed multiple white nodules along the tracheal cartilage ring. Adenocarcinoma cells were detected in the mass, but no malignancy was found in several biopsy specimens of the tracheal lesions. F-18-fluorodeoxyglucose positron emission tomography showed intense accumulation in the mass, nasal septum, and tracheal cartilage. Furthermore, the patient had elevated levels of anti-type II collagen antibody. He was finally diagnosed with lung cancer complicated by relapsing polychondritis. The treatment included oral prednisolone and sequential chemoradiotherapy for lung cancer.
Article
Hematology
Motoharu Hamada, Hideki Muramatsu, Yuka Torii, Kyogo Suzuki, Atsushi Narita, Taro Yoshida, Masayuki Imaya, Ayako Yamamori, Manabu Wakamatsu, Shunsuke Miwata, Kotaro Narita, Shinsuke Kataoka, Nozomu Kawashima, Rieko Taniguchi, Eri Nishikawa, Nobuhiro Nishio, Yoshinori Ito, Seiji Kojima, Yoshiyuki Takahashi
Summary: This single-center retrospective study evaluated the outcomes of 30 children who underwent bone marrow transplantation from HLA 7/8-matched unrelated donors with rATG as GVHD prophylaxis. The results showed favorable outcomes and acceptable GVHD, indicating the feasibility of this approach.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2023)
Review
Hematology
Taro Fukuta, Hideki Muramatsu, Daiki Yamashita, Daichi Sajiki, Ryo Maemura, Yusuke Tsumura, Ayako Yamamori, Masayuki Imaya, Manabu Wakamatsu, Eri Nishikawa, Kotaro Narita, Shinsuke Kataoka, Rieko Taniguchi, Atsushi Narita, Nobuhiro Nishio, Yoshiyuki Takahashi
Summary: This article presents a case study of vedolizumab treatment for pediatric intestinal acute graft-versus-host disease (aGVHD). The efficacy of vedolizumab in 10 pediatric patients with intestinal aGVHD was evaluated, and the results showed potential effectiveness of this drug with no serious adverse events.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Asuka Kono, Manabu Wakamatsu, Yoshihiro Umezawa, Hideki Muramatsu, Hiroki Fujiwara, Dan Tomomasa, Kento Inoue, Keiichiro Hattori, Tetsuo Mitsui, Hidetoshi Takada, Yoshiyuki Minegishi, Yoshiyuki Takahashi, Masahide Yamamoto, Takehiko Mori, Hirokazu Kanegane
Summary: DOCK8 deficiency is a rare genetic immune deficiency characterized by eczema, elevated IgE, and recurrent infections. Two Japanese patients with DOCK8 deficiency were successfully treated by allogeneic HCT from alternative donors, resulting in improved clinical manifestations and successful engraftment and immune reconstitution.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2023)
Article
Pathology
Kazunori Haruta, Suguru Takeuchi, Makoto Yamaguchi, Kazuhiro Horiba, Takako Suzuki, Yuka Torii, Atsushi Narita, Hideki Muramatsu, Yoshiyuki Takahashi, Yoshinori Ito, Jun-ichi Kawada
Summary: In this study, a novel pathogen detection technology called droplet digital PCR (ddPCR) was developed and compared with real-time quantitative PCR (qPCR) for detecting human adenovirus DNA. The results showed that ddPCR exhibited better reproducibility and sensitivity, as well as equivalent quantifiability, compared with qPCR. Therefore, ddPCR has the potential to provide a more accurate DNAemia detection, determine cutoff values for treatment initiation, and enable antiviral efficacy assessment.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2023)
Article
Oncology
Shinsaku Imashuku, Shin-ichiro Suemori, Manabu Wakamatsu, Yusuke Okuno, Hideki Muramatsu, Shigeru Makino, Takashi Miyoshi, Kazuhisa Chonabayashi, Hitoshi Kanno
Summary: Differential diagnosis of juvenile hemochromatosis with hemolytic anemia is challenging. We present a case of a 23-year-old woman with macrocytic hemolytic anemia and iron overload. A mutation in the PIEZO1 gene (heterozygous c.6008C>A: p.A2003D) was identified through target gene sequencing, which has been previously reported in a family with dehydrated hereditary stomatocytosis (DHS1, [OMIM 194380]). This case highlights the importance of considering DHS1 in the differential diagnosis of iron overload associated with non-transfused hemolytic anemia in children and young adults.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2023)
Letter
Oncology
Hiromi Tobai, Mikiya Endo, Masataka Ishimura, Kunihiko Moriya, Jun Yano, Keita Kanamori, Norio Sato, Fumitaka Amanuma, Hidekazu Maruyama, Hideki Muramatsu, Junji Shibahara, Masami Narita, Seiko Fumoto, Daniel Peltier, Shouichi Ohga
PEDIATRIC BLOOD & CANCER
(2023)
Article
Clinical Neurology
Hiroyuki Yamamoto, Jun Natsume, Kimihiko Kaneko, Toshiyuki Takahashi, Manabu Wakamatsu, Chikako Ogawa, Sumire Kumai, Ryosuke Suzui, Fumi Sawamura, Anna Shiraki, Tomohiko Nakata, Hiroyuki Kidokoro, Hideki Muramatsu, Yoshiyuki Takahashi
Summary: This study reports two rare cases of patients with juvenile myelomonocytic leukemia (JMML) who developed myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). We propose that abnormalities in the RAS pathway contribute to the formation of anti-MOG antibodies and the onset of MOGAD.
PEDIATRIC NEUROLOGY
(2023)
Meeting Abstract
Oncology
Masayuki Imaya, Atsushi Narita, Nobuhiro Nishio, Manabu Wakamatsu, Rieko Taniguchi, Shinsuke Kataoka, Hideki Muramatsu, Daisuke Ichikawa, Naoko Maeda, Yoshiyuki Takahashi
PEDIATRIC BLOOD & CANCER
(2022)
Meeting Abstract
Oncology
Shinsuke Kataoka, Ayako Yamamori, Masayuki Imaya, Manabu Wakamatsu, Kotaro Narita, Rieko Taniguchi, Atsushi Narita, Hideki Muramatsu, Nobuhiro Nishio, Yoshiyuki Takahashi
PEDIATRIC BLOOD & CANCER
(2022)
Meeting Abstract
Oncology
Rowaida Alahmadi, Nobuhiro Nishio, Manabu Wakamatsu, Shinsuke Kataoka, Kotaro Narita, Rieko Taniguchi, Atsushi Narita, Hideki Muramatsu, Yoshiyuki Takahashi
PEDIATRIC BLOOD & CANCER
(2022)