Faculty Profiles - MURAMATSU, Hideki

Papers - MURAMATSU, Hideki

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Long-term outcomes of 95 children with moderate aplastic anemia treated with horse antithymocyte globulin and cyclosporine Reviewed

Nishikawa Eri, Yagasaki Hiroshi, Hama Asahito, Yabe Hiromasa, Ohara Akira, Kosaka Yoshiyuki, Kudo Kazuko, Kobayashi Ryoji, Ohga Shouichi, Morimoto Akira, Watanabe Ken-ichiro, Yoshida Nao, Muramatsu Hideki, Takahashi Yoshiyuki, Kojima Seiji

PEDIATRIC BLOOD & CANCER Vol. 64 ( 5 ) 2017.5

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing Reviewed

Ichimura Takuya, Yoshida Kenichi, Okuno Yusuke, Yujiri Toshiaki, Nagai Kozo, Nishi Masanori, Shiraishi Yuichi, Ueno Hiroo, Toki Tsutomu, Chiba Kenichi, Tanaka Hiroko, Muramatsu Hideki, Hara Toshiro, Kanno Hitoshi, Kojima Seiji, Miyano Satoru, Ito Etsuro, Ogawa Seishi, Ohga Shouichi

INTERNATIONAL JOURNAL OF HEMATOLOGY Vol. 105 ( 4 ) page： 515 - 520 2017.4

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia Reviewed

Ikeda Fumika, Yoshida Kenichi, Toki Tsutomu, Uechi Tamayo, Ishida Shiori, Nakajima Yukari, Sasahara Yoji, Okuno Yusuke, Kanezaki Rika, Terui Kiminori, Kamio Takuya, Kobayashi Akie, Fujita Takashi, Sato-Otsubo Aiko, Shiraishi Yuichi, Tanaka Hiroko, Chiba Kenichi, Muramatsu Hideki, Kanno Hitoshi, Ohga Shouichi, Ohara Akira, Kojima Seiji, Kenmochi Naoya, Miyano Satoru, Ogawa Seishi, Ito Etsuro

HAEMATOLOGICA Vol. 102 ( 3 ) page： e93 - e96 2017.2

Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia Reviewed

Sugimoto Masayo, Takeichi Takuya, Muramatsu Hideki, Kojima Daiei, Osada Yukari, Kono Michihiro, Kojima Seiji, Akiyama Masashi

ACTA DERMATO-VENEREOLOGICA Vol. 97 ( 2 ) page： 277 - 278 2017.2

Clinical utility of next-generation sequencing-based minimal residual disease in paediatric B-cell acute lymphoblastic leukaemia Reviewed

Sekiya Yuko, Xu Yinyan, Muramatsu Hideki, Okuno Yusuke, Narita Atsushi, Suzuki Kyogo, Wang Xinan, Kawashima Nozomu, Sakaguchi Hirotoshi, Yoshida Nao, Hama Asahito, Takahashi Yoshiyuki, Kato Koji, Kojima Seiji

BRITISH JOURNAL OF HAEMATOLOGY Vol. 176 ( 2 ) page： 248 - 257 2017.1

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency Reviewed

Tsujita Y., Mitsui-Sekinaka K., Imai K., Yeh T.W., Mitsuiki N., Asano T., Ohnishi H., Kato Z., Sekinaka Y., Zaha K., Kato T., Okano T., Takashima T., Kobayashi K., Kimura M., Kunitsu T., Maruo Y., Kanegane H., Takagi M., Yoshida K., Okuno Y., Muramatsu H., Shiraishi Y., Chiba K., Tanaka H., Miyano S., Kojima S., Ogawa S., Ohara O., Okada S., Kobayashi M., Morio T., Nonoyama S.

Journal of Allergy and Clinical Immunology Vol. 138 ( 6 ) page： 1672 - 1680.e10 2016.12

Language：Japanese Publisher：Journal of Allergy and Clinical Immunology

Background Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess phosphatidylinositol 3-kinase (PI3K) activity linked to mutations in 2 PI3K genes, PIK3CD and PIK3R1, causes APDS through hyperphosphorylation of AKT, mammalian target of rapamycin (mTOR), and S6. Objective This study aimed to identify novel genes responsible for APDS. Methods Whole-exome sequencing was performed in Japanese patients with PIDs. Immunophenotype was assessed through flow cytometry. Hyperphosphorylation of AKT, mTOR, and S6 in lymphocytes was examined through immunoblotting, flow cytometry, and multiplex assays. Results We identified heterozygous mutations of phosphatase and tensin homolog (PTEN) in patients with PIDs. Immunoblotting and quantitative PCR analyses indicated that PTEN expression was decreased in these patients. Patients with PTEN mutations and those with PIK3CD mutations, including a novel E525A mutation, were further analyzed. The clinical symptoms and immunologic defects of patients with PTEN mutations, including lymphocytic AKT, mTOR, and S6 hyperphosphorylation, resemble those of patients with APDS. Because PTEN is known to suppress the PI3K pathway, it is likely that defective PTEN results in activation of the PI3K pathway. Conclusion PTEN loss-of-function mutations can cause APDS-like immunodeficiency because of aberrant PI3K pathway activation in lymphocytes.

DOI： 10.1016/j.jaci.2016.03.055

Scopus

Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita Reviewed

Elmahadi S., Muramatsu H., Kojima S.

Current Opinion in Hematology Vol. 23 ( 6 ) page： 501 - 507 2016.11

Language：Japanese Publisher：Current Opinion in Hematology

Purpose of review Dyskeratosis congenita is an inherited bone marrow failure syndrome caused by defects in telomere maintenance. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure because of dyskeratosis congenita. The present review summarizes the literature with respect to the diagnosis and treatment of patients with dyskeratosis congenita who received HSCT, and discusses the recent progress in the management of dyskeratosis congenita. Recent findings The recent systematic review of the literature showed poor long-term outcome, with 10-year survival estimates of only 23% in 109 patients with dyskeratosis congenita who received HSCT. Multivariate analysis identified age greater than 20 years at HSCT, HSCT before 2000, and alternative donor source to be poor prognostic markers. HSCT for dyskeratosis congenita is characterized by a marked decline in long-term survival because of late deaths from pulmonary complications. However, a prospective study using danazol showed promising results in gain in telomere length and hematologic responses. Summary A recent prospective study may support the recommendation that HSCT is not indicated for patients with dyskeratosis congenita; instead, they should receive androgen, particularly danazol, as a first-line therapy. Another option may be routine use of androgen after HSCT for the prophylaxis of pulmonary fibrosis.

DOI： 10.1097/MOH.0000000000000290

Scopus

Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome Reviewed

Kojima D., Muramatsu H., Okuno Y., Kataoka S., Murakami N., Tanahashi Y., Suzuki K., Kato T., Sekiya Y., Kawashima N., Narita A., Nishio N., Hama A., Imai K., Nonoyama S., Takahashi Y., Kojima S.

Journal of Allergy and Clinical Immunology Vol. 138 ( 5 ) page： 1471 - 1473.e4 2016.11

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype Reviewed

Yabe M., Yabe H., Morimoto T., Fukumura A., Ohtsubo K., Koike T., Yoshida K., Ogawa S., Ito E., Okuno Y., Muramatsu H., Kojima S., Matsuo K., Hira A., Takata M.

British Journal of Haematology Vol. 175 ( 3 ) page： 457 - 461 2016.11

Language：Japanese Publisher：British Journal of Haematology

Studies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase-2 (ALDH2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from DNA damage. We studied the ALDH2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH2 allele was not essential for fetal development of ALDH2-deficient patients, and none of the post-natal clinical parameters were clearly affected by the maternal ALDH2 genotype in these patients.

DOI： 10.1111/bjh.14243

Scopus

MEF2D-BCL9 fusion gene is associated with high-risk acute B-cell precursor lymphoblastic leukemia in adolescents Reviewed

Suzuki K., Okuno Y., Kawashima N., Muramatsu H., Okuno T., Wang X., Kataoka S., Sekiya Y., Hamada M., Murakami N., Kojima D., Narita K., Narita A., Sakaguchi H., Sakaguchi K., Yoshida N., Nishio N., Hama A., Takahashi Y., Kudo K., Kato K., Kojima S.

Journal of Clinical Oncology Vol. 34 ( 28 ) page： 3451 - 3459 2016.10

Language：Japanese Publisher：Journal of Clinical Oncology

Purpose: Acute lymphoblastic leukemia (ALL) makes up a significant proportion of all pediatric cancers, and relapsed ALL is a leading cause of cancer-associated deaths in children. Identification of risk factors and druggable molecular targets in ALL can lead to a better stratification of treatments and subsequent improvement in prognosis. Patients and Methods: We enrolled 59 children with relapsed or primary refractory ALL who were treated in our institutions. We primarily performed RNA sequencing (RNA-seq) using patients' leukemic cells to comprehensively detect gene fusions and analyze gene expression profiles. On the basis of results obtained by RNA-seq, we performed genetic validation, functional analysis, and in vitro drug sensitivity testing using patients' samples and an exogenous expression model. Results: We identified a total of 26 gene fusions in 22 patients by RNA-seq. Among these, 19 were non-random gene fusions already described in ALL, and four of the remaining seven involved identical combination of MEF2D and BCL9. All MEF2D-BCL9-positive patients had B-cell precursor immunophenotype and were characterized as being older in age, being resistant to chemotherapy, having very early relapse, and having leukemic blasts that mimic morphologically mature B-cell leukemia with markedly high expression of HDAC9. Exogenous expression of MEF2D-BCL9 in a B-cell precursor ALL cell line promoted cell growth, increased HDAC9 expression, and induced resistance to dexamethasone. Using a primary culture of leukemic blasts from a patient, we identified several molecular targeted drugs that conferred inhibitory effects in vitro. Conclusion: A novel MEF2D-BCL9 fusion we identified characterizes a novel subset of pediatric ALL, predicts poor prognosis, and may be a candidate for novel molecular targeting.

DOI： 10.1200/JCO.2016.66.5547

Scopus

Kampo patterns and radiology in children receiving choreito for hemorrhagic cystitis after hematopoietic stem cell transplantation Reviewed

Kawashima N., Sekiya Y., Narita A., Kamei M., Muramatsu H., Nishio N., Hama A., Ito Y., Takahashi Y., Kojima S.

Traditional and Kampo Medicine Vol. 3 ( 2 ) page： 136 - 144 2016.10

Publisher：Traditional and Kampo Medicine

Aim: Choreito reduces the disease burden of hemorrhagic cystitis (HC) in children undergoing hematopoietic stem cell transplantation, but the underlying Kampo mechanism has not yet been clarified. To obtain pathophysiological insights, the present study evaluated changes in Kampo patterns and genitourinary imaging during choreito treatment. Methods: Ten consecutive children with late-onset HC after stem cell transplantation were treated with choreito. Kampo patterns and computed tomography (CT) before and after choreito treatment were retrospectively analyzed. Results: Ten children with a median age of 9.7 years (range, 5.4–14 years) were diagnosed with late-onset HC; 9 had BK virus and 1 had adenovirus. The median duration from the beginning of choreito intake to complete resolution was 12 days (range, 4–28 days). All 10 children fulfilled the Kampo pattern of Bladder damp–heat at diagnosis; all had heat and/or hardness in the lower abdomen, and 8 children had a slippery pulse. CT was obtained in 4 of the 10 children at the time of diagnosis, all of which showed bladder wall thickening and perivesical inflammation. After choreito treatment for a median of 26 days (range, 8–40 days), none of the children had any sign of damp–heat, which coincided with the disappearance of perivesical inflammation, as confirmed on CT. Conclusion: Lower abdominal heat/hardness with a slippery pulse may reflect damp–heat accumulation in the lower energizer, causing HC. Improvement in these examinations can be used as a surrogate response marker in choreito treatment for HC, which should be confirmed in future prospective studies.

DOI： 10.1002/tkm2.1053

Scopus

JAK2, MPL, and CALR mutations in children with essential thrombocythemia Reviewed

Sekiya Y., Okuno Y., Muramatsu H., Ismael O., Kawashima N., Narita A., Wang X., Xu Y., Hama A., Fujisaki H., Imamura T., Hasegawa D., Kosaka Y., Sunami S., Ohtsuka Y., Ohga S., Takahashi Y., Kojima S., Shimada A.

International Journal of Hematology Vol. 104 ( 2 ) page： 266 - 267 2016.8

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies. Reviewed

Kojima D, Wang X, Muramatsu H, Okuno Y, Nishio N, Hama A, Tsuge I, Takahashi Y, Kojima S

The Journal of allergy and clinical immunology Vol. 138 ( 1 ) page： 303 - 305.e3 2016.7

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. Reviewed

Imashuku S, Muramatsu H, Sugihara T, Okuno Y, Wang X, Yoshida K, Kato A, Kato K, Tatsumi Y, Hattori A, Kita S, Oe K, Sueyoshi A, Usui T, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Kanno H

International journal of hematology Vol. 104 ( 1 ) page： 125 - 129 2016.7

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia Reviewed

Kitamura K., Okuno Y., Yoshida K., Sanada M., Shiraishi Y., Muramatsu H., Kobayashi R., Furukawa K., Miyano S., Kojima S., Ogawa S., Kunishima S.

Journal of Thrombosis and Haemostasis Vol. 14 ( 7 ) page： 1462 - 1469 2016.7

Language：Japanese Publisher：Journal of Thrombosis and Haemostasis

Essentials Two groups recently reported GFI1B as a novel causative gene for congenital macrothrombocytopenia. We performed functional analysis of a novel GFI1B mutation and previous mutations. An immunofluorescence analysis of the platelet CD34 expression can be useful as a screening test. Mutant-transduced megakaryocytes produced enlarged proplatelet tips which were reduced in number. Summary: Background GFI1B is an essential transcription factor for megakaryocyte and erythrocyte development. Two groups have recently identified GFI1B as a novel causative gene for congenital macrothrombocytopenia associated with α-granule deficiency. Methods We performed whole exome sequencing and identified a novel GFI1B p.G272fsX274 mutation in a family with macrothrombocytopenia, and a decreased number of platelet α-granules and abnormally shaped red blood cells. p.G272fsX274 and the previous two mutations all predicted disruption of an essential DNA-binding domain in GFI1B. We therefore performed functional studies to characterize the biochemical and biological effects of these three patient-derived mutations. Results An immunofluorescence analysis revealed decreased thrombospondin-1 and increased CD34 expression in platelets from our patient. Consistent with the previous studies, the three patient-derived mutants were unable to repress the expression of the reporter gene and had a dominant-negative effect over wild-type GFI1B. In addition, the three mutations abolished recognition of a consensus-binding site in gel shift assays. Furthermore, transduction of mouse fetal liver-derived megakaryocytes with the three GFI1B mutants resulted in the production of abnormally large proplatelet tips, which were reduced in number. Conclusions Our study provides further proof of concept that GFI1B is an essential protein for the normal development of the megakaryocyte lineage.

DOI： 10.1111/jth.13350

Scopus

Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia Reviewed

Suzuki K., Muramatsu H., Okuno Y., Narita A., Hama A., Takahashi Y., Yoshida M., Horikoshi Y., Watanabe K.i., Kudo K., Kojima S.

International Journal of Hematology Vol. 104 ( 1 ) page： 130 - 133 2016.7

Language：Japanese Publisher：International Journal of Hematology

Idiopathic aplastic anemia (AA) is a rare hematological complication of Down syndrome (DS). The safety and efficacy of immunosuppressive therapy (IST) in individuals with DS remain unknown. We used a standard regimen of IST, comprising antithymocyte globulin and cyclosporine A, to treat three children with DS and idiopathic acquired AA. Two patients achieved a hematological (complete or partial) response and became transfusion independent at the final follow-up. The third patient failed to respond to IST and underwent bone marrow transplantation from a human leukocyte antigen (HLA)-mismatched unrelated donor. None of the patients experienced severe or unexpected adverse events during IST. Our experience suggests that IST is a safe and reasonable treatment, even in individuals with DS who suffer from AA and lack an HLA-matched sibling donor.

DOI： 10.1007/s12185-016-1997-z

Scopus

Genetic predisposition to pediatric myeloid malignancies Reviewed

Muramatsu H.

[Rinsho ketsueki] The Japanese journal of clinical hematology Vol. 57 ( 6 ) page： 730 - 735 2016.6

Language：Japanese Publisher：[Rinsho ketsueki] The Japanese journal of clinical hematology

Various genetic disorders are known to be associated with cancer predisposition. For example, children with Down syndrome are predisposed to developing acute myeloid leukemia, and those with RASopathies, such as Noonan syndrome, are predisposed to juvenile myelomonocytic leukemia. To date, more than 250 diseases or syndromes have been reported to be associated with the development of pediatric cancers. Recently, the advent of the massive parallel sequencing technique revealed several germline mutations, including RUNX1, CEBPA, GATA2, SRP72, ETV6, and DDX41, which are associated with familial myeloid malignancies. A significant number of children with myeloid malignancies may harbor pathognomonic germline variants. It is strongly recommended that precise diagnosis, genetic counseling, familial screening, and follow-up programs be provided for patients with such a predisposition to cancer. To identify genetic disorders associated with predispositions to pediatric myeloid malignancies, the development of an efficient screening system with the massive parallel sequencer for germline and somatic mutations, which would also be useful for familial genetic studies and prediction of tumor progression, is needed.

DOI： 10.11406/rinketsu.57.730

Scopus

Markedly High Plasma Thrombopoietin (TPO) Level is a Predictor of Poor Response to Immunosuppressive Therapy in Children With Acquired Severe Aplastic Anemia. Reviewed

Elmahdi S, Muramatsu H, Narita A, Ismael O, Hama A, Nishio N, Okuno Y, Xu Y, Wang X, Takahashi Y, Kojima S

Pediatric blood & cancer Vol. 63 ( 4 ) page： 659 - 664 2016.4

A Cytokine-Based Diagnostic Program in Pediatric Aplastic Anemia and Hypocellular Refractory Cytopenia of Childhood. Reviewed

Elmahdi S, Hama A, Manabe A, Hasegawa D, Muramatsu H, Narita A, Nishio N, Ismael O, Kawashima N, Okuno Y, Xu Y, Wang X, Takahashi Y, Ito M, Kojima S

Pediatric blood & cancer Vol. 63 ( 4 ) page： 652 - 658 2016.4

Leukostasis in Children and Adolescents with Chronic Myeloid Leukemia: Japanese Pediatric Leukemia/Lymphoma Study Group. Reviewed

Kurosawa H, Tanizawa A, Tono C, Watanabe A, Shima H, Ito M, Yuza Y, Hotta N, Muramatsu H, Okada M, Kajiwara R, Moriya Saito A, Mizutani S, Adachi S, Horibe K, Ishii E, Shimada H

Pediatric blood & cancer Vol. 63 ( 3 ) page： 406 - 411 2016.3

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Papers - MURAMATSU, Hideki