研究者詳細 - 村松　秀城

論文 - 村松　秀城

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Risk factors of bloodstream infection after allogeneic hematopoietic cell transplantation in children/adolescent and young adults. 査読有り Open Access

Sajiki D, Muramatsu H, Wakamatsu M, Yamashita D, Maemura R, Tsumura Y, Imaya M, Yamamori A, Narita K, Kataoka S, Taniguchi R, Narita A, Nishio N, Takahashi Y

PloS one 19 巻 ( 8 ) 頁： e0308395 2024年

Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation. 査読有り Open Access

Kagajo M, Moritani K, Iwamoto M, Miyamoto M, Imai T, Hamada M, Wakamatsu M, Muramatsu H, Eguchi-Ishimae M, Eguchi M

Leukemia research reports 22 巻頁： 100476 2024年

Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review. 査読有り国際誌

Yuki Hoshino, Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yu Hashimoto, Satoshi Nakayama, Daichi Sajiki, Hideki Muramatsu, Hidetoshi Hagiwara, Shuichi Suzuki, Yujin Sekinaka, Hajime Wakamatsu, Hiroyuki Kawaguchi, Kohsuke Imai

Journal of pediatric hematology/oncology 2023年12月

記述言語：英語掲載種別：研究論文（学術雑誌）

Noonan syndrome-related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia (JMML) are rare MPDs that occur in young children. We herein report a case of NS/MPD with neonatal onset. The patient had a characteristic appearance and high monocyte count in the peripheral blood and bone marrow. Genetic testing showed the E139D mutation in PTPN11; however, the patient did not meet all the diagnostic criteria for JMML, and we thus diagnosed him with NS/MPD. Eight other cases of NS/MPD with neonatal onset are also summarized. The initial presentation varied, and the prognosis was considered poor compared with previous reports of NS/MPD.

DOI： 10.1097/MPH.0000000000002803

PubMed

A Japanese retrospective study of non-tuberculous mycobacterial infection in children, adolescents, and young adult patients with hematologic-oncologic diseases. 査読有り国際誌

Yusuke Tsumura, Hideki Muramatsu, Nobuyuki Tetsuka, Takahiro Imaizumi, Kikue Sato, Kento Inoue, Yoshitomo Motomura, Yuko Cho, Daiki Yamashita, Daichi Sajiki, Ryo Maemura, Ayako Yamamori, Masayuki Imaya, Manabu Wakamatsu, Kotaro Narita, Shinsuke Kataoka, Motoharu Hamada, Rieko Taniguchi, Eri Nishikawa, Atsushi Narita, Nobuhiro Nishio, Seiji Kojima, Yoshihiko Hoshino, Yoshiyuki Takahashi

Haematologica 2023年10月

記述言語：英語掲載種別：研究論文（学術雑誌）

Non-tuberculous mycobacterial infection (NTM) is rare in healthy children, with lymphadenitis being the most common presentation. Immunocompromised populations are known to be at high risk, but the clinical picture of NTM infection in pediatric hematology/oncology patients is unclear. In this nationwide retrospective analysis of patients under the age of 40 treated in Japanese pediatric hematology/oncology departments who developed NTM infection between January 2010 and December 2020, 36 patients (21 patients with hematopoietic stem cell transplantation (HSCT) and 15 nontransplant patients) were identified. Post-transplant patients were infected with NTM at 24 sites, including the lungs (n = 12), skin and soft tissues (n = 6), bloodstream (n = 4), and others (n = 2). Nine of twelve patients with pulmonary NTM infection had a history of pulmonary graft-versus-host disease (GVHD), and rapid-growing mycobacteria (RGM) were isolated from five of them. In nontransplant patients, the primary diseases were acute lymphoblastic leukemia (ALL; n = 5), inborn errors of immunity (IEI; n = 6), and others (n = 4). All cases of ALL had bloodstream infections with RGM, whereas all cases of IEI were infected with slow-growing mycobacteria (SGM). In summary, three typical clinical scenarios for pediatric hematology/oncology patients have been established: RGM-induced pulmonary disease in patients with pulmonary GVHD, RGM bloodstream infection in patients with ALL, and SGM infection in patients with IEI. Our findings suggest that NTM must be regarded as a pathogen for infections in these high-risk patients, especially those with pulmonary GVHD, who may require active screening for NTM.

DOI： 10.3324/haematol.2023.283636

PubMed

Severe β-thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia. 査読有り国際誌

Jun Nagahama, Takuro Nishikawa, Tatsuro Nakamura, Shunsuke Nakagawa, Yuichi Kodama, Hideyuki Terazono, Manabu Wakamatsu, Hideki Muramatsu, Yasuhiro Yamashiro, Hitoshi Kanno, Yasuhiro Okamoto

Pediatric blood & cancer 70 巻 ( 12 ) 頁： e30706 2023年10月

Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors 査読有り

Kono A., Wakamatsu M., Umezawa Y., Muramatsu H., Fujiwara H., Tomomasa D., Inoue K., Hattori K., Mitsui T., Takada H., Minegishi Y., Takahashi Y., Yamamoto M., Mori T., Kanegane H.

International Journal of Hematology 118 巻 ( 4 ) 頁： 519 - 525 2023年10月

出版者・発行元：International Journal of Hematology

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by eczematous dermatitis, elevated serum IgE, and recurrent infections, comprising a seemingly hyper-IgE syndrome (HIES). DOCK8 deficiency is only curable with allogeneic hematopoietic cell transplantation (HCT), but the outcome of HCT from alternative donors is not fully understood. Here, we describe the cases of two Japanese patients with DOCK8 deficiency who were successfully treated by allogeneic HCT from alternative donors. Patient 1 underwent cord blood transplantation at the age of 16 years, and Patient 2 underwent haploidentical peripheral blood stem cell transplantation with post-transplant cyclophosphamide at the age of 22 years. Each patient received a fludarabine-based conditioning regimen. Their clinical manifestations, including refractory molluscum contagiosum, promptly improved post-HCT. They achieved successful engraftment and immune reconstitution without serious complications. Alternative donor sources such as cord blood and haploidentical donors can be options for allogeneic HCT for DOCK8 deficiency.

DOI： 10.1007/s12185-023-03613-y

Scopus

Pediatric erythroblastic transformation of JAK2-mutated prefibrotic primary myelofibrosis with concurrent PHF6 mutations 査読有り

Oshiro T., Hamada S., Kiyuna S., Sakiyama H., Hyakuna N., Tamaki T., Muramatsu H., Nakanishi K.

Pediatric Blood and Cancer 70 巻 ( 10 ) 2023年10月

Updated guidelines for chronic active Epstein–Barr virus disease 査読有り

Kawada J.i., Ito Y., Ohshima K., Yamada M., Kataoka S., Muramatsu H., Sawada A., Wada T., Imadome K.I., Arai A., Iwatsuki K., Ohga S., Kimura H.

International Journal of Hematology 2023年9月

掲載種別：研究論文（学術雑誌）出版者・発行元：International Journal of Hematology

Chronic active Epstein–Barr virus disease (CAEBV), formerly named chronic active Epstein–Barr virus infection, is characterized by systemic inflammation and clonal proliferation of Epstein–Barr virus (EBV)-infected T or NK cells. As CAEBV is a potentially life-threatening illness, appropriate diagnosis and therapeutic interventions are necessary for favorable clinical outcomes. Substantial evidence regarding the pathogenesis and treatment of CAEBV has been accumulated since previous guidelines for the diagnosis of CAEBV were proposed. To reflect this evidence, we updated the guidelines for the diagnosis and treatment of CAEBV to improve clinical management of the disease. The details of the updated guidelines are presented in this report. Diagnosis of CAEBV now requires confirmation of a high copy number of EBV genome and EBV-infected T or NK cells. An EBV DNA load ≥ 10,000 IU/mL in whole blood is proposed as the diagnostic cutoff value for CAEBV in this updated guideline. A standard treatment approach for CAEBV has not been established, and hematopoietic stem cell transplantation (HSCT) is considered the only curative treatment. Chemotherapy can be administered to control disease activity before HSCT.

DOI： 10.1007/s12185-023-03660-5

Scopus

その他リンク： https://link.springer.com/article/10.1007/s12185-023-03660-5/fulltext.html

Vedolizumab for children with intestinal graft-versus-host disease: a case report and literature review 査読有り

Fukuta T., Muramatsu H., Yamashita D., Sajiki D., Maemura R., Tsumura Y., Yamamori A., Imaya M., Wakamatsu M., Nishikawa E., Narita K., Kataoka S., Taniguchi R., Narita A., Nishio N., Takahashi Y.

International Journal of Hematology 118 巻 ( 3 ) 頁： 411 - 417 2023年9月

出版者・発行元：International Journal of Hematology

Acute graft-versus-host disease (aGVHD) is a challenging complication of allogeneic hematopoietic stem cell transplantation, and alternative therapies for patients showing inadequate response to steroids are limited. Vedolizumab, an anti-α4β7 integrin antibody widely used for treating inflammatory bowel diseases, has recently been studied in adult patients with steroid-refractory intestinal aGVHD. However, few studies have examined its safety and effectiveness in pediatric patients with intestinal aGVHD. We report the case of a male patient with intestinal late-onset aGVHD treated with vedolizumab. He underwent allogeneic cord blood transplantation for warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome and developed intestinal late-onset aGVHD 31 months after transplantation. The patient was refractory to steroids; however, vedolizumab was initiated 43 months after transplantation (at the age of 7 years) and the symptoms of intestinal aGVHD were alleviated. Additionally, favorable endoscopic findings were observed, such as reduction of erosion and regenerative epithelial growth. We also evaluated the efficacy of vedolizumab in 10 patients with intestinal aGVHD (9 from the literature review and the present case). Six patients (60%) showed an objective response to vedolizumab. No serious adverse events were observed in any patients. Vedolizumab is a potential treatment option for steroid-refractory intestinal aGVHD in pediatric patients.

DOI： 10.1007/s12185-023-03590-2

Scopus

Two Cases of Juvenile Myelomonocytic Leukemia and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease 査読有り

Yamamoto H., Natsume J., Kaneko K., Takahashi T., Wakamatsu M., Ogawa C., Kumai S., Suzui R., Sawamura F., Shiraki A., Nakata T., Kidokoro H., Muramatsu H., Takahashi Y.

Pediatric Neurology 144 巻頁： 1 - 4 2023年7月

出版者・発行元：Pediatric Neurology

Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder that often manifests after infections or vaccinations. We report two patients who developed MOGAD out of eight patients with juvenile myelomonocytic leukemia (JMML) that has never been reported. Methods: We investigated two patients with JMML who developed MOGAD among 127 patients with leukemia from 2012 to 2021. Results: Patient 1 was treated for JMML and developed fever and impaired consciousness at two years and one month of age. Magnetic resonance imaging revealed high-intensity lesions in the left frontal and left occipital white matter. The serum anti-MOG antibody test was positive, while the test was negative in the stored serum 45 days before the onset of encephalopathy. He had relapse of MOGAD after steroid therapy and plasmapheresis. Patient 2, who was treated for JMML, became apathetic and mute at three years and seven months of age. Magnetic resonance imaging revealed left frontoparietal subcortical high-intensity lesions. Anti-MOG antibody at the onset of encephalopathy was positive, while it was negative in stored serum 57 days before and 47 days after the onset. Conclusion: We treated two patients who developed MOGAD out of eight patients with JMML and none with MOGAD out of 119 patients with acute lymphocytic leukemia, acute myelocytic leukemia, or chronic myelocytic leukemia. The activated autoimmune process via the RAS pathway abnormality may have led to the formation of the anti-MOG antibody and the onset of MOGAD. MOGAD can occur in children with JMML, and abnormalities of the RAS pathway possibly contribute to its onset.

DOI： 10.1016/j.pediatrneurol.2023.03.002

Scopus

Human leukocyte antigen 7/8-matched unrelated bone marrow transplantation using anti-thymocyte globulin in children 査読有り

Hamada M., Muramatsu H., Torii Y., Suzuki K., Narita A., Yoshida T., Imaya M., Yamamori A., Wakamatsu M., Miwata S., Narita K., Kataoka S., Kawashima N., Taniguchi R., Nishikawa E., Nishio N., Ito Y., Kojima S., Takahashi Y.

International Journal of Hematology 118 巻 ( 1 ) 頁： 125 - 130 2023年7月

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

Scopus

Successful living-donor liver transplantation for sustained liver failure even after resolution of infiltrative massive hepatic invasion of stage 4S neuroblastoma: a case report. 査読有り国際誌

Kanta Jobara, Ayako Yamamori, Masato Shizuku, Nobuhiko Kurata, Yasuhiro Fujimoto, Hideki Muramatsu, Yoshiyuki Takahashi, Yasuhiro Ogura

Surgical case reports 9 巻 ( 1 ) 頁： 100 - 100 2023年6月

記述言語：英語掲載種別：研究論文（学術雑誌）

BACKGROUND: Neuroblastoma is the most common extracranial solid tumor in childhood. Stage 4S neuroblastoma is a unique subset of neuroblastoma characterized by a favorable course and potentially low malignancy with a high rate of spontaneous tumor regression. However, recent reports have shown that there is a subgroup of patients with stage 4S neuroblastoma characterized by MYCN amplification, chromosomal aberrations, age of < 2 months at diagnosis, and significantly poorer outcomes. CASE PRESENTATION: A 1-month-old male infant with a huge abdominal tumor was transferred to our hospital and diagnosed with stage 4S neuroblastoma. The patient showed respiratory distress due to abdominal compartment syndrome secondary to massive hepatic invasion, and he required a silo operation and mechanical ventilation. After chemotherapy using carboplatin and etoposide, the infiltrative massive hepatic invasion was resolved and the abdominal compartment syndrome gradually improved; however, liver dysfunction as evidenced by hyperbilirubinemia, coagulopathy, and hyperammonemia continued. At the age of 3 months, living-donor liver transplantation was performed for treatment of sustained liver failure using a reduced lateral segment graft from the patient's father. Post-transplant liver function recovered immediately. Examination of the explanted liver demonstrated that the majority of liver tissue had been replaced by fibroblastic cells after massive hepatocyte dropout. There were only small areas of residual neuroblastoma cells in the liver specimen. The patient was discharged from the hospital 5 months after transplantation with home intermittent respiratory support. At the time of this writing (23 months after liver transplantation), he was in good condition with no signs of recurrence of neuroblastoma. CONCLUSIONS: We have herein presented a case of successful pediatric living-donor liver transplantation for sustained liver failure even after resolution of infiltrative massive hepatic invasion of stage 4S neuroblastoma. Our case clearly shows that liver transplantation can be added as an appropriate extended treatment option for liver failure after resolution of stage 4S neuroblastoma.

DOI： 10.1186/s40792-023-01681-0

PubMed

Neonatal intestinal obstruction in Hoyeraal–Hreidarsson syndrome with novel RTEL1 variants 査読有り

Tobai H., Endo M., Ishimura M., Moriya K., Yano J., Kanamori K., Sato N., Amanuma F., Maruyama H., Muramatsu H., Shibahara J., Narita M., Fumoto S., Peltier D., Ohga S.

Pediatric Blood and Cancer 70 巻 ( 6 ) 2023年6月

Efficacy and safety of bevacizumab, irinotecan, and temozolomide combination for relapsed or refractory pediatric central nervous system embryonal tumor: a single-institution study 査読有り

Shiba Y., Motomura K., Taniguchi R., Kurimoto M., Mizutani K., Ohka F., Aoki K., Ito E., Nishikawa T., Yamaguchi J., Kibe Y., Shimizu H., Maeda S., Nakashima T., Suzuki H., Muramatsu H., Takahashi Y., Saito R.

Journal of Neurosurgery: Pediatrics 31 巻 ( 6 ) 頁： 624 - 632 2023年6月

出版者・発行元：Journal of Neurosurgery: Pediatrics

OBJECTIVE This study aimed to evaluate the efficacy and safety of combination therapy with bevacizumab (Bev), irinotecan (CPT-11), and temozolomide (TMZ) in children with central nervous system (CNS) embryonal tumor relapse. METHODS The authors retrospectively examined 13 consecutive pediatric patients with relapsed or refractory CNS embryonal tumors who received combination therapy comprising Bev, CPT-11, and TMZ. Specifically, 9 patients had medulloblastoma, 3 had atypical teratoid/rhabdoid tumor (AT/RT), and 1 had CNS embryonal tumor with rhabdoid features. Of the 9 medulloblastoma cases, 2 were categorized in the Sonic hedgehog subgroup and 6 in molecular subgroup 3 for medulloblastoma. RESULTS The complete and partial objective response rates were 66.6% in patients with medulloblastoma and 75.0% in patients with AT/RT or CNS embryonal tumors with rhabdoid features. Furthermore, the 12- and 24-month progression-free survival rates were 69.2% and 51.9% for all patients with recurrent or refractory CNS embryonal tumors, respectively. In contrast, the 12- and 24-month overall survival rates were 67.1% and 58.7%, respectively, for all patients with relapsed or refractory CNS embryonal tumors. The authors observed grade 3 neutropenia, thrombocytopenia, proteinuria, hypertension, diarrhea, and constipation in 23.1%, 7.7%, 23.1%, 7.7%, 7.7%, and 7.7% of patients, respectively. Furthermore, grade 4 neutropenia was observed in 7.1% of patients. Nonhematological adverse effects, such as nausea and constipation, were mild and controlled with standard antiemetics. CONCLUSIONS This study demonstrated favorable survival outcomes in patients with relapsed or refractory pediatric CNS embryonal tumors and thus helped to investigate the efficacy of combination therapy comprising Bev, CPT-11, and TMZ. Moreover, combination chemotherapy had high objective response rates, and all adverse events were tolerable. To date, data supporting the efficacy and safety of this regimen in the relapsed or refractory AT/RT population are limited. These findings suggest the potential efficacy and safety of combination chemotherapy in patients with relapsed or refractory pediatric CNS embryonal tumors.

DOI： 10.3171/2023.1.PEDS22345

Scopus

Droplet Digital PCR Development for Adenovirus Load Monitoring in Children after Hematopoietic Stem Cell Transplantation 査読有り

Haruta K., Takeuchi S., Yamaguchi M., Horiba K., Suzuki T., Torii Y., Narita A., Muramatsu H., Takahashi Y., Ito Y., Kawada J.i.

Journal of Molecular Diagnostics 25 巻 ( 6 ) 頁： 403 - 409 2023年6月

出版者・発行元：Journal of Molecular Diagnostics

Human adenovirus (AdV) reactivation after hematopoietic stem cell transplantation (HSCT) is associated with life-threatening clinical manifestations. Although real-tme quantitative PCR (qPCR) has been widely used to measure AdV loads, it has not been standardized for AdV. Droplet digital PCR (ddPCR) is a novel pathogen detection technology that enables the absolute quantification of viral loads. ddPCR would enable a more accurate AdV DNA detection compared with qPCR. In this study, ddPCR was developed for AdV DNA and its performance characteristics compared with those of qPCR. AdV DNAemia incidence during the first 12 weeks after allogenic HSCT was then retrospectively examined by qPCR and ddPCR in 97 HSCT procedures using the preserved 545 DNA samples. ddPCR exhibited better reproducibility and sensitivity, as well as equivalent quantifiability, compared with qPCR. AdV DNA among HSCT patients was detected in 11 (2.0%) and 49 (9.0%) of 545 samples by qPCR and ddPCR, respectively. AdV DNA levels >1000 copies/mL were observed in five cases by qPCR and/or ddPCR. However, two patients developed fulminant hepatitis and died; other patients remained asymptomatic with subsequently undetectable AdV DNA. In conclusion, ddPCR was more sensitive and reproducible in detecting AdV DNA among pediatric HSCT recipients than qPCR. ddPCR offers the potential to provide a more accurate DNAemia detection, determine cutoff values for treatment initiation, and enable antiviral efficacy assessment.

DOI： 10.1016/j.jmoldx.2023.03.004

Scopus

Juvenile Hemochromatosis with Non-Transfused Hemolytic Anemia Caused by a de Novo PIEZO1 Gene Mutation 査読有り

Imashuku S., Suemori S.I., Wakamatsu M., Okuno Y., Muramatsu H., Makino S., Miyoshi T., Chonabayashi K., Kanno H.

Journal of Pediatric Hematology/Oncology 45 巻 ( 4 ) 頁： E510 - E513 2023年5月

出版者・発行元：Journal of Pediatric Hematology/Oncology

Differential diagnosis of juvenile hemochromatosis along with hemolytic anemia is often difficult. We report a 23-year-old woman with macrocytic hemolytic anemia with iron overload. The patient showed high serum ferritin and transferrin saturation and low serum transferrin and ceruloplasmin. We also noticed stomatocytes in her blood smear, which was confirmed by scanning electron microscopy. Target gene sequencing identified a mutation in PIEZO1 (heterozygous c.6008C>A: p.A2003D). This mutation was reported previously in a family with dehydrated hereditary stomatocytosis (DHS1, [OMIM 194380]), but in the current case, it was identified to be a de novo mutation. We underscore DHS1 in the differential diagnosis of iron overload associated with non-Transfused hemolytic anemia in children and young adults.

DOI： 10.1097/MPH.0000000000002639

Scopus

Haematopoietic cell transplantation for children with acute megakaryoblastic leukaemia without Down syndrome 査読有り

Hama A., Taga T., Tomizawa D., Muramatsu H., Hasegawa D., Adachi S., Yoshida N., Noguchi M., Sato M., Okada K., Koh K., Mitsui T., Takahashi Y., Miyamura T., Hashii Y., Kato K., Atsuta Y., Okamoto Y.

British Journal of Haematology 201 巻 ( 4 ) 頁： 747 - 756 2023年5月

出版者・発行元：British Journal of Haematology

Patients with acute megakaryoblastic leukaemia of Down syndrome (DS-AMKL) have an excellent survival rate; however, patients with non-DS-AMKL experience poor outcomes. Therefore, this study retrospectively analysed 203 children with non-DS-AMKL who underwent their first haematopoietic cell transplantation (HCT) from 1986 to 2015 using a nationwide Japanese HCT registry data to assess HCT outcomes for non-DS-AMKL. The 5-year overall survival (OS) and event-free survival (EFS) rates were 43% and 38% respectively. The 5-year OS rate was significantly higher for patients who underwent HCT in the first complete remission (CR1, 72%) than for those in the second CR (CR2, 23%) and non-CR (16%) (p < 0.001), and for those from a human leukocyte antigen (HLA)-matched (52%) than for those from an HLA-mismatched donor (27%) (p < 0.001). Multivariate analysis for OS revealed that HCT in CR2 and non-CR was a significant risk factor (hazard ratio, 5.86; 95% confidence interval, 3.56–9.53; p < 0.001). The 3-year EFS in patients who received HCT in CR1 using reduced-intensity conditioning (RIC, 35%) was significantly lower than in those using myeloablative conditioning (busulfan-based, 71%; total body irradiation-based, 58%) (p < 0.001). Risk stratification in patients with non-DS-AMKL should be established to determine HCT indication in CR1.

DOI： 10.1111/bjh.18691

Scopus

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort 査読有り

Yamamori A., Hamada M., Muramatsu H., Wakamatsu M., Hama A., Narita A., Tsumura Y., Yoshida T., Doi T., Terada K., Higa T., Yamamoto N., Miura H., Shiota M., Watanabe K., Yoshida N., Maemura R., Imaya M., Miwata S., Narita K., Kataoka S., Taniguchi R., Suzuki K., Kawashima N., Nishio N., Iwafuchi H., Ito M., Kojima S., Okuno Y., Takahashi Y.

American Journal of Hematology 98 巻 ( 5 ) 頁： E102 - E105 2023年5月

愛知県における副腎白質ジストロフィーの拡大新生児マススクリーニングの現状と課題査読有り

中田智彦, 伊藤祐史, 村松秀城, 山本啓之, 城所博之, 久保田一生, 山田晋一郎, 勝野雅央, 伊藤哲哉, 下澤伸行, 夏目淳

脳と発達 55 巻 ( Suppl. ) 頁： S314 - S314 2023年5月

A nationwide survey of late effects in survivors of juvenile myelomonocytic leukemia in Japan 査読有り

Ozono S., Sakashita K., Yoshida N., Kakuda H., Watanabe K., Maeda M., Ishida Y., Manabe A., Taga T., Muramatsu H.

Pediatric Blood and Cancer 70 巻 ( 2 ) 2023年2月

出版者・発行元：Pediatric Blood and Cancer

We conducted a cross-sectional study using a questionnaire to explore the late effects in survivors of allogenic hematopoietic stem cell transplantation (HSCT) for juvenile myelomonocytic leukemia (JMML). The attending pediatric hematologists/oncologists completed the questionnaires. Of the 30 survivors, approximately 83% showed more than one late effect. The identified late effects included endocrine, dental, skin, ophthalmologic, musculoskeletal, pulmonary, neurocognitive, and cardiovascular dysfunction. The prevalence of short stature, pulmonary, cardiovascular, and nephrological complications was significantly elevated among survivors who were 12 years or more lapsed after HSCT. Therefore, a multidisciplinary follow-up system for survivors of JMML is crucial.

DOI： 10.1002/pbc.30126

Scopus

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