Faculty Profiles - MURAMATSU, Hideki

Papers - MURAMATSU, Hideki

Division display 61 - 80 of about 274 ／ All the affair displays >>

Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia Reviewed Open Access

Narita A., Miwata S., Imaya M., Tsumura Y., Yamamori A., Wakamatsu M., Hamada M., Taniguchi R., Okuno Y., Muramatsu H., Takahashi Y.

Blood Advances Vol. 6 ( 8 ) page： 2517 - 2519 2022.4

Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report Reviewed

Urata T., Imamura T., Osone S., Muramatsu H., Takahashi Y., Hosoi H.

Journal of Pediatric Hematology/Oncology Vol. 44 ( 2 ) page： E438 - E441 2022.3

Language：Japanese Publisher：Journal of Pediatric Hematology/Oncology

Fanconi anemia (FA) is a rare genetic disorder that manifests as congenital abnormalities and bone marrow failure (BMF). Most patients with FA present with BMF within the first decade of life; however, neonate and early infancy BMF is rare. Recent studies have shown that a defective aldehyde dehydrogenase 2 (ALDH2) variant accelerates BMF development in patients with FA. Herein, we described an infant case of FA with compound heterozygous FANCI mutation and the defective ALDH2 variant. Our case developed BMF early probably because of ALDH2 deficiency, while the mild malformation might be because of the locus of FANCI mutation.

DOI： 10.1097/MPH.0000000000002254

Scopus

PubMed

Nosocomial infection with rotavirus vaccine strain in paediatric patients with immunodeficiency Reviewed

Miura H., Taniguchi K., Narita K., Kawamura Y., Kozawa K., Muramatsu H., Takahashi Y., Ihira M., Yoshikawa T.

Journal of Hospital Infection Vol. 121 page： 9 - 13 2022.3

Publisher：Journal of Hospital Infection

In infants with immunodeficiency, rotavirus (RV) vaccines can be continuously excreted in stool. We analysed nosocomial infection with RV vaccine strain in immunodeficient paediatric patients. RV1 RNAs were detected in stool and serum samples from case A, who was vaccinated with RV1, and case B, who was not. PAGE analysis of serial stool samples of case A revealed several rearrangements of the RV genome. In case B, the only band pattern detected was the same as a rearrangement detected in case A at the same time. In summary, RV vaccination of infants with immunodeficiency poses a risk of nosocomial infections.

DOI： 10.1016/j.jhin.2021.12.009

Scopus

Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan Reviewed Open Access

Tanita K., Kawamura Y., Miura H., Mitsuiki N., Tomoda T., Inoue K., Iguchi A., Yamada M., Yoshida T., Muramatsu H., Tada N., Matsui T., Kato M., Eguchi K., Ishimura M., Ohga S., Imai K., Morio T., Yoshikawa T., Kanegane H.

Frontiers in Immunology Vol. 13 2022.2

Publisher：Frontiers in Immunology

Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 in 50,000 births, mainly due to impaired lymphocyte differentiation. Without curative treatment, such as hematopoietic cell transplantation (HCT) or gene therapy, severe infection in the first year of life could make this condition fatal. The results of HCT are poor when patients have active infections, thus requiring early diagnosis before onset of infection. In five cases of SCID diagnosed in Japan, the oral rotavirus vaccine had been administered before diagnosis. In this study, we demonstrated that the rotavirus from their stools was a vaccine-derived strain. In some cases, severe gastroenteritis triggered the diagnosis of SCID. However, newborn screening for SCID is available before the first rotavirus vaccination using assays for the detection of T-cell receptor excision circles (TRECs). Therefore, to improve the prognosis of patients with SCID in Japan, we should establish a screening system of TRECs for newborns throughout Japan.

DOI： 10.3389/fimmu.2022.786375

Open Access

Scopus

A retrospective analysis of azacitidine treatment for juvenile myelomonocytic leukemia Reviewed

Honda Y., Muramatsu H., Nanjo Y., Hirabayashi S., Meguro T., Yoshida N., Kakuda H., Ozono S., Wakamatsu M., Moritake H., Yasui M., Sano H., Manabe A., Sakashita K.

International Journal of Hematology Vol. 115 ( 2 ) page： 263 - 268 2022.2

Language：Japanese Publisher：International Journal of Hematology

Juvenile myelomonocytic leukemia (JMML) is a pediatric hematological malignancy with a poor prognosis. Although several case series have been published describing hematological and molecular responses to azacitidine (AZA) treatment in patients with JMML, the efficacy and safety profile of AZA is not well investigated, especially in Asian children and children undergoing hematopoietic stem cell transplantation (HSCT). We retrospectively analyzed 5 patients who received a total of 12 cycles (median 2 cycles) of AZA treatment in Japan. All five patients were boys and their ages at the time of treatment were 21, 23, 24, 26, and 46 months, respectively. All five patients tolerated AZA treatment, including four patients who received AZA after HSCT. Therapeutic toxicity with AZA was mostly limited to hematological toxicity. The only serious non-hematological adverse event was hyperbilirubinemia (grades III–IV) observed in a patient who received AZA after a second HSCT. Two out of five patients treated with AZA achieved a partial response (PR), while three patients treated for post-transplant relapse did not have an objective response. Future prospective studies should be conducted to develop combination therapies with AZA and other molecular targeted drugs for high-risk patients.

DOI： 10.1007/s12185-021-03248-x

Scopus

PubMed

Prospective validation of the provisional entity of refractory cytopenia of childhood, proposed by the World Health Organization Reviewed Open Access

Hama A., Hasegawa D., Manabe A., Nozawa K., Narita A., Muramatsu H., Kosaka Y., Kobayashi M., Koh K., Takahashi Y., Watanabe K., Ohara A., Ito M., Kojima S.

British Journal of Haematology Vol. 196 ( 4 ) page： 1031 - 1039 2022.2

Language：Japanese Publisher：British Journal of Haematology

In 2008, the World Health Organization proposed a new entity of childhood myelodysplastic syndrome (MDS), which was referred to as refractory cytopenia of childhood (RCC). However, whether this morphological classification reflects clinical outcomes remains unclear. We performed a prospective evaluation of bone marrow morphology in 252 children with acquired bone marrow failure between 2009 and 2013. Of 252 patients, 63 were diagnosed with aplastic anaemia (AA), 131 with RCC without multilineage dysplasia (RCC-w/o-MLD) and 58 with RCC with MLD (RCC-MLD). One patient with AA, three with RCC-w/o-MLD and nine with RCC-MLD presented with chromosomal abnormalities at diagnosis (P = 0·001). The response rates to immunosuppressive therapy (IST) at 6 months and the cumulative incidence of clonal evolution at 5 years did not significantly differ among the three groups. A multivariate analysis revealed that the morphological classification of RCC-MLD was a significant risk factor for secondary graft failure after haematopoietic cell transplantation (HCT) (P = 0·003). In view of these findings, RCC could be divided into two categories, RCC-w/o-MLD and RCC-MLD, because children with this condition exhibited a distinct morphology, frequent chromosomal abnormalities at diagnosis and a high frequency of secondary graft failure after HCT.

DOI： 10.1111/bjh.17921

Scopus

ライソゾーム病新生児マススクリーニング検査におけるカットオフ値と機能的多型,ヘテロ症例検出頻度の検討 Reviewed

中島葉子, 横井克幸, 若松学, 小島大英, 作田一実, 酒井好美, 村松秀城, 伊藤哲哉

日本小児科学会雑誌 Vol. 126 ( 2 ) page： 243 - 243 2022.2

Azacitidine as a bridge to transplantation in juvenile myelomonocytic leukemia Reviewed

Takebayashi A., Yamamoto M., Igarashi K., Muramatsu H., Kawasaki Y.

Pediatrics International Vol. 64 ( 1 ) 2022.1

Clinical Impact of Melphalan Pharmacokinetics on Transplantation Outcomes in Children Undergoing Hematopoietic Stem Cell Transplantation Reviewed Open Access

Maemura R., Wakamatsu M., Matsumoto K., Sakaguchi H., Yoshida N., Hama A., Yoshida T., Miwata S., Kitazawa H., Narita K., Kataoka S., Ichikawa D., Hamada M., Taniguchi R., Suzuki K., Kawashima N., Nishikawa E., Narita A., Okuno Y., Nishio N., Kato K., Kojima S., Morita K., Muramatsu H., Takahashi Y.

Cell Transplantation Vol. 31 2022.1

Publisher：Cell Transplantation

Melphalan is widely used for hematopoietic stem cell transplantation (HSCT) conditioning. However, the relationship between its pharmacokinetic (PK) and transplantation outcomes in children has not been thoroughly investigated. We prospectively analyzed the relationship between melphalan area under the curve (AUC) and transplantation outcome and examined the development of a predictive model for melphalan clearance in children. This study included 43 children aged 0 to 19 years who underwent HSCT following a melphalan-based conditioning regimen from 2017 to 2021. In univariable analysis, high-melphalan AUC resulted in a significantly lower cumulative incidence of acute graft-versus-host disease and a higher cumulative incidence of thrombotic microangiopathy, although no significant difference was observed in survival. Regression analysis of a randomly selected derivation cohort (n = 21) revealed the following covariate PK model: predicted melphalan clearance (mL/min) = 6.47 × 24-h urinary creatinine excretion rate (CER, g/day) × 24-h creatinine clearance rate (CCR, mL/min) + 92.8. In the validation cohort (n = 22), the measured melphalan clearance values were significantly correlated with those calculated based on the prediction equation (R2 = 0.663). These results indicate that melphalan exposure may be optimized by adjusting the melphalan dose according to CER and CCR.

DOI： 10.1177/09636897221143364

Scopus

Dorsal myelopathy after nelarabine and intrathecal methotrexate therapy Reviewed

Sawamura F., Natsume J., Nakata T., Muramatsu H., Takahashi Y.

Pediatrics International Vol. 64 ( 1 ) 2022.1

Microsatellite instability-high is rare events in refractory pediatric solid tumors Reviewed Open Access

Yoshida T., Muramatsu H., Wakamatsu M., Taniguchi R., Ichikawa D., Nakaguro M., Natsume A., Takahashi Y.

Pediatric Hematology and Oncology Vol. 39 ( 5 ) page： 468 - 474 2022

Language：Japanese Publisher：Pediatric Hematology and Oncology

Microsatellite instability (MSI)-high status is associated with good responsiveness to immune checkpoint inhibitors. Although MSI-high status has been actively investigated in pediatric brain tumors, studies of other pediatric solid tumors are lacking. Among 334 consecutive pediatric patients with solid tumors, we retrospectively analyzed formalin-fixed paraffin-embedded tumor tissues of 36 of 74 patients (49%) who died of disease. We assessed the MSI status in these tissues using five multiplexed markers. The results revealed that none of the patients had an MSI-high status. These results indicate that MSI-high status is a rare event in pediatric patients with refractory/relapsed solid tumors. Supplemental data for this article is available online at https://doi.org/10.1080/08880018.2021.1998266.

DOI： 10.1080/08880018.2021.1998266

Open Access

Scopus

Simple and robust methylation test for risk stratification of patients with juvenile myelomonocytic leukemia Reviewed Open Access

Kitazawa H., Okuno Y., Muramatsu H., Aoki K., Murakami N., Wakamatsu M., Suzuki K., Narita K., Kataoka S., Ichikawa D., Hamada M., Taniguchi R., Kawashima N., Nishikawa E., Narita A., Nishio N., Hama A., Loh M.L., Stieglitz E., Kojima S., Takahashi Y.

Blood Advances Vol. 5 ( 24 ) page： 5507 - 5518 2021.12

Language：Japanese Publisher：Blood Advances

Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm that develops during infancy and early childhood. The array-based international consensus definition of DNA methylation has recently classified patients with JMML into the following 3 groups: high (HM), intermediate (IM), and low methylation (LM). To develop a simple and robust methylation clinical test, 137 patients with JMML were analyzed using the Digital Restriction Enzyme Analysis of Methylation (DREAM), which is a next-generation sequencing–based methylation analysis. Unsupervised consensus clustering of the discovery cohort (n 5 99) using DREAM data identified HM (HM_DREAM; n 5 35) and LM subgroups (LM_DREAM; n 5 64). Of the 98 cases that could be compared with the international consensus classification, 90 HM (n 5 30) and LM (n 5 60) cases had 100% concordance with DREAM clustering results. Of the remaining 8 cases comprising the IM group, 4 were classified as belonging to the HM_DREAM group and 4 to the LM_DREAM group. A machine-learning classifier was successfully constructed using a support vector machine (SVM), which divided the validation cohort (n 5 38) into HM (HM_SVM, n 5 18) and LM (LM_SVM; n 5 20) groups. Patients with the HM_SVM profile had a significantly poorer 5-year overall survival rate than those with the LM_SVM profile. In conclusion, we developed a robust methylation test using DREAM for patients with JMML. This simple and straightforward test can be easily incorporated into diagnosis to generate a methylation classification for patients so they can receive risk-adapted treatment in the context of future clinical trials.

DOI： 10.1182/bloodadvances.2021005080

Scopus

PubMed

A neonate diagnosed with Noonan syndrome with myeloproliferative change Reviewed

Nagatomo K., Fukushima H., Kanai Y., Muramatsu H., Takada H.

Pediatrics International Vol. 63 ( 12 ) page： 1521 - 1523 2021.12

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas Reviewed Open Access

Ichikawa D., Yamashita K., Okuno Y., Muramatsu H., Murakami N., Suzuki K., Kojima D., Kataoka S., Hamada M., Taniguchi R., Nishikawa E., Kawashima N., Narita A., Nishio N., Hama A., Kasai K., Mizuno S., Shimoyama Y., Nakaguro M., Okita H., Kojima S., Nakazawa A., Takahashi Y.

npj Genomic Medicine Vol. 6 ( 1 ) page： 49 2021.12

Language：Japanese Publisher：npj Genomic Medicine

Pediatric solid tumors are a heterogeneous group of neoplasms with over 100 subtypes. Clinical and histopathological diagnosis remains challenging due to the overlapping morphological and immunohistochemical findings and the presence of atypical cases. To evaluate the potential utility of including RNA-sequencing (RNA-seq) in the diagnostic process, we performed RNA-seq in 47 patients with suspected pediatric sarcomas. Histopathologists specialized in pediatric cancer re-evaluated pathological specimens to reach a consensus diagnosis; 42 patients were diagnosed with known subtypes of solid tumors whereas 5 patients were diagnosed with undifferentiated sarcoma. RNA-seq analysis confirmed and refined consensus diagnoses and further identified diagnostic genetic variants in four of the five patients with undifferentiated sarcoma. Genetic lesions were detected in 23 patients, including the novel SMARCA4-THOP1 fusion gene and 22 conventional or recently reported genetic events. Unsupervised clustering analysis of the RNA-seq data identified a distinct cluster defined by the overexpression of rhabdomyosarcoma-associated genes including MYOG and CHRNG. These findings suggest that RNA-seq-based genetic analysis may aid in the diagnosis of suspected pediatric sarcomas, which would be useful for the development of stratified treatment strategies.

DOI： 10.1038/s41525-021-00210-y

Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases Reviewed Open Access

Horiba K., Torii Y., Okumura T., Takeuchi S., Suzuki T., Kawada J.I., Muramatsu H., Takahashi Y., Ogi T., Ito Y.

Open Forum Infectious Diseases Vol. 8 ( 11 ) 2021.11

Publisher：Open Forum Infectious Diseases

Background. Febrile neutropenia (FN) is a frequent complication in immunocompromised patients. However, causative microorganisms are detected in only 10% of patients. This study aimed to detect the microorganisms that cause FN using next-generation sequencing (NGS) to identify the genome derived from pathogenic microorganisms in the bloodstream. Here, we implemented a metagenomic approach to comprehensively analyze microorganisms present in clinical samples from patients with FN. Methods. FN is defined as a neutrophil count <500 cells/µL and fever ≥37.5°C. Plasma/serum samples of 112 pediatric patients with FN and 10 patients with neutropenia without fever (NE) were sequenced by NGS and analyzed by a metagenomic pipeline, PATHDET. Results. The putative pathogens were detected by NGS in 5 of 10 FN patients with positive blood culture results, 15 of 87 FN patients (17%) with negative blood culture results, and 3 of 8 NE patients. Several bacteria that were common in the oral, skin, and gut flora were commonly detected in blood samples, suggesting translocation of the human microbiota to the bloodstream in the setting of neutropenia. The cluster analysis of the microbiota in blood samples using NGS demonstrated that the representative bacteria of each cluster were mostly consistent with the pathogens in each patient. Conclusions. NGS technique has great potential for detecting causative pathogens in patients with FN. Cluster analysis, which extracts characteristic microorganisms from a complex microbial population, may be effective to detect pathogens in minute quantities of microbiota, such as those from the bloodstream.

DOI： 10.1093/ofid/ofab223

Open Access

Scopus

Acquisition of a rare NUP98–BPTF fusion gene associated with recurrence of acute myeloid leukemia Reviewed

Kawaguchi K., Azumi S., Itakura Y., Takachi T., Ogura T., Horikoshi Y., Suzuki K., Muramatsu H., Hama A., Takahashi Y., Watanabe K.

Pediatric Blood and Cancer Vol. 68 ( 10 ) page： e29201 2021.10

Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes Reviewed Open Access

Miwata S., Narita A., Okuno Y., Suzuki K., Hamada M., Yoshida T., Imaya M., Yamamori A., Wakamatsu M., Narita K., Kitazawa H., Ichikawa D., Taniguchi R., Kawashima N., Nishikawa E., Nishio N., Kojima S., Muramatsu H., Takahashi Y.

Haematologica Vol. 106 ( 9 ) page： 2511 - 2515 2021.9

Autoantibodies against the plakin family proteins as a novel marker for chronic graft-versus-host disease of the lung Reviewed Open Access

Kawashima N., Nishikawa E., Tsuchisaka A., Hashimoto T., Okuno Y., Hamada M., Ichikawa D., Narita A., Muramatsu H., Nishio N., Kojima S., Muro Y., Takahashi Y.

Bone Marrow Transplantation Vol. 56 ( 9 ) page： 2291 - 2294 2021.9

Echocardiography Monitoring of Pulmonary Hypertension after Pediatric Hematopoietic Stem Cell Transplantation: Pediatric Pulmonary Arterial Hypertension and Pulmonary Veno-Occlusive Disease after Hematopoietic Stem Cell Transplantation Reviewed Open Access

Kawashima N., Fukasawa Y., Nishikawa E., Ohta-Ogo K., Ishibashi-Ueda H., Hamada M., Ichikawa D., Narita A., Okuno Y., Muramatsu H., Nishio N., Kojima S., Kato T., Takahashi Y.

Transplantation and Cellular Therapy Vol. 27 ( 9 ) page： 786.e1 - 786.e8 2021.9

Language：Japanese Publisher：Transplantation and Cellular Therapy

Pulmonary hypertension (PH) is associated with high morbidity in children undergoing hematopoietic stem cell transplantation (HSCT). However, owing to the lack of sequential echocardiography, the nature of the condition is not fully understood. This study was conducted to investigate whether routine echocardiography performed after HSCT could detect patients with PH at an earlier stage and elucidate the role of intervention using tadalafil. The study population comprised 93 consecutive children age <18 years who underwent a total of 109 HSCTs. All patients underwent routine transthoracic echocardiography during HSCT. Four children (4%) with a median age of 4 years (range, 0.7 to 6 years) were found to have PH, and their median tricuspid regurgitation peak velocity (TRV) was 4.1 m/s (range, 3.5 to 4.2 m/s). PH was diagnosed at a median of 52 days (range, 21 to 118 days) after HSCT. Three of them were diagnosed with neuroblastoma, and 1 was diagnosed with infantile leukemia. One patient developed PH after autologous HSCT, and 3 received killer immunoglobulin-like receptor ligand-mismatched cord blood. Busulfan was used for conditioning in all patients, and the proportion of patients receiving this medication was significantly higher in the PH group compared with the non-PH group (100% versus 30%; P =.011). Three of the 4 patients had a durable response (TRV ≤2.8 m/s) at a median of 46 days (range, 14 to 79 days) after starting treatment with tadalafil. No patient experienced exacerbation of PH, and treatment was completed at median of 96 days (range, 46 to 212 days). Our data suggest that routine echocardiography monitoring after HSCT should be considered in children receiving busulfan, although the precise follow-up timing needs further study. In addition, safe and effective administration of tadalafil must be ensured by close monitoring.

DOI： 10.1016/j.jtct.2021.05.017

急性リンパ性白血病に対するpiggyBacトランスポゾン法によるCD19 CAR-T療法の臨床第I相試験(Phase I study of piggyBac transposon mediated CD19: CAR-T therapy for acute lymphoblastic leukemia) Reviewed

西尾信博, 葉名尻良, 石川裕一, 寺倉精太郎, 西田徹也, 村田誠, 濱田太立, 西川英里, 川島希, 奥野友介, 成田敦, 村松秀城, 高橋義行

日本血液学会学術集会 Vol. 83回 page： OS2 - 4 2021.9

　 PREV - NEXT 　

<MURAMATSU, Hideki>

Papers - MURAMATSU, Hideki