Atsushi Manabe

Publications (53)182.12 Total impact

• Article: Aggressive Transformation of Juvenile Myelomonocytic Leukemia Associated with Duplication of Oncogenic KRAS due to Acquired Uniparental Disomy.

  Motohiro Kato, Naoko Yasui, Masafumi Seki, Hiroshi Kishimoto, Aiko Sato-Otsubo, Daisuke Hasegawa, Nobutaka Kiyokawa, Ryoji Hanada, Seishi Ogawa, Atsushi Manabe, Junko Takita, Katsuyoshi Koh
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  ABSTRACT: A small fraction of cases of juvenile myelomonocytic leukemia (JMML) develop massive disease activation. Through genomic analysis of JMML, which developed in an individual with mosaicism for oncogenic KRAS mutation with rapid progression, we identified acquired uniparental disomy at 12p. We demonstrated that duplication of oncogenic KRAS is associated with rapid JMML progression.
  The Journal of pediatrics 02/2013; · 4.02 Impact Factor
• Article: Childhood acute lymphoblastic leukemia (ALL).

  Atsushi Manabe, Daisuke Hasegawa
  [Rinshō ketsueki] The Japanese journal of clinical hematology 01/2013; 54(1):100-8.
• Article: Clinicians' perspectives on support for children with a parent who is diagnosed with breast cancer.

  Yuko Takei, Miwa Ozawa, Yasushi Ishida, Shin-Ichi Suzuki, Shinji Ohno, Atsushi Manabe
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  ABSTRACT: BACKGROUND: There are few data on clinicians' perspectives regarding support for children who have a parent who has been diagnosed with breast cancer. The purpose of this study was to survey the attitudes of physicians and nurses regarding the care of children who had a parent diagnosed with breast cancer. METHODS: A survey was mailed to 898 physicians and 135 nurses who were members of the Japanese Breast Cancer Society in 2009. They were asked to answer questions about their attitudes toward and current practice regarding care for children who had a parent with breast cancer. RESULTS: A total of 340 surveys (284 physicians and 56 nurses) were used in this analysis. The mean age of the respondents was 47.2 years, and their mean number of years of practice was 21.7 years. While 69.1 % of them reported that they felt it important for people in their roles to provide support for children, 84.4 % felt they could not provide sufficient support. The results also suggested that female gender in practitioners and nurses as opposed to doctor status seemed to be associated with preference for intervention, current practice of intervention, and recognition of difficulty to support. CONCLUSIONS: Physicians and nurses express a variety of opinions with regard to support for children with a parent who has breast cancer. It is important to cooperate with other specialists including physicians, nurses, and psychologists and allocate roles appropriately among them to improve outcomes for these children.
  Breast Cancer 10/2012; · 1.36 Impact Factor
• Article: Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.

  Ayami Yoshimi, Yoshiro Kamachi, Kosuke Imai, Nobuhiro Watanabe, Hisaya Nakadate, Takashi Kanazawa, Shuichi Ozono, Ryoji Kobayashi, Misa Yoshida, Chie Kobayashi, Asahito Hama, Hideki Muramatsu, Yoji Sasahara, Marcus Jakob, Tomohiro Morio, Stephan Ehl, Atsushi Manabe, Charlotte Niemeyer, Seiji Kojima
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  ABSTRACT: BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency caused by defects of the WAS protein (WASP) gene. Patients with WAS typically demonstrate micro-thrombocytopenia. PROCEDURES: The report describes seven male infants with WAS that initially presented with leukocytosis, monocytosis, and myeloid and erythroid precursors in the peripheral blood (PB) and dysplasia in the bone marrow (BM), which was initially indistinguishable from juvenile myelomonocytic leukaemia (JMML). RESULTS: The median age of affected patients was 1 month (range, 1-4 months). Splenomegaly was absent in four of these patients, which was unusual for JMML. A mutation analysis of genes in the RAS-signalling pathway did not support a diagnosis of JMML. Non-haematological features, such as eczema (n = 7) and bloody stools (n = 6), ultimately led to the diagnosis of WAS at a median age of 4 months (range, 3-8 months), which was confirmed by absent (n = 6) or reduced (n = 1) WASP expression in lymphocytes by flow cytometry (FCM) and a WASP gene mutation. Interestingly, mean platelet volume (MPV) was normal in three of five patients and six of seven patients demonstrated occasional giant platelets, which was not compatible with WAS. CONCLUSIONS: These data suggest that WAS should be considered in male infants presenting with JMML-like features if no molecular markers of JMML can be detected. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.
  Pediatric Blood & Cancer 09/2012; · 1.89 Impact Factor
• Article: Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

  Rie Ohba, Kazumichi Furuyama, Kenichi Yoshida, Tohru Fujiwara, Noriko Fukuhara, Yasushi Onishi, Atsushi Manabe, Etsuro Ito, Keiya Ozawa, Seiji Kojima, Seishi Ogawa, Hideo Harigae
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  ABSTRACT: Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to clarify the pathophysiology of sideroblastic anemia, a nationwide survey consisting of clinical and molecular genetic analysis was performed in Japan. As of January 31, 2012, data of 137 cases of sideroblastic anemia, including 72 cases of myelodysplastic syndrome (MDS)-refractory cytopenia with multilineage dysplasia (RCMD), 47 cases of MDS-refractory anemia with ring sideroblasts (RARS), and 18 cases of CSA, have been collected. Hemoglobin and MCV level in CSA are significantly lower than those of MDS, whereas serum iron level in CSA is significantly higher than those of MDS. Of 14 CSA for which DNA was available for genetic analysis, 10 cases were diagnosed as X-linked sideroblastic anemia due to ALAS2 gene mutation. The mutation of SF3B1 gene, which was frequently mutated in MDS-RS, was not detected in CSA patients. Together with the difference of clinical data, it is suggested that genetic background, which is responsible for the development of CSA, is different from that of MDS-RS.
  Annals of Hematology 09/2012; · 2.62 Impact Factor
• Article: Outcome of children with refractory anaemia with excess of blast (RAEB) and RAEB in transformation (RAEB-T) in the Japanese MDS99 study.

  Akira Kikuchi, Daisuke Hasegawa, Yoshitoshi Ohtsuka, Kazuko Hamamoto, Seiji Kojima, Jun Okamura, Tatsutoshi Nakahata, Atsushi Manabe
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  ABSTRACT: We report the outcome of 16 children with refractory anaemia with excess of blasts (RAEB; n = 4) and RAEB in transformation (RAEB-T; n = 12) following induction therapy with etoposide, cytarabine and mitoxantrone (ECM) prior to haematopoietic stem cell transplantation (HSCT). The median observation period was 77 months (range 5-123). Complete remission rate was 81% following induction; no toxic deaths occurred. Eight-year event-free survival and overall survival was 50% and 56%, respectively. None of the three patients with a complex karyotype survived, suggesting karyotype is a crucial prognostic factor for survival. This study indicates the safety and high remission rate of ECM and high survival rates after HSCT for paediatric RAEB and RAEB-T.
  British Journal of Haematology 06/2012; 158(5):657-61. · 4.94 Impact Factor
• Article: Acute Myeloid Leukemia with Multilineage Dysplasia in Children

  Souichi Adachi, Atsushi Manabe, Masue Imaizumi, Takashi Taga, Akio Tawa, Masahito Tsurusawa, Akira Kikuchi, Atsuko Masunaga, Masahiro Tsuchida, Tatsutoshi Nakahata, MDS Committee of the Japanese Society of Pediatric Hematology
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  ABSTRACT: We retrospectively surveyed pediatric acute myeloid leukemia (AML) patients with multilineage dysplasia treated with the AML 99 and the Children's Cancer and Leukemia Study Group (CCLSG) AML 9805 protocols. We found only 9 AML patients (2.6%) with multilineage dysplasia among the 341 patients with newly diagnosed de novo AML. Eight of the 9 patients obtained complete remission (CR) following the intensive AML-oriented treatments. Three of 7 patients who underwent stem cell transplantation were alive in CR for more than 4 years, and the 2 patients treated only with chemotherapy were alive in CR for more than 30 months. We did not identify any particular chromosomal abnormalities or differentiation according to the French-American-British classification in these 9 patients. No reports have described AML with multilineage dysplasia in children, and the incidence of the disease is expected to be very low. We plan to conduct a prospective pathologic review to select cases with this disease entity in the next Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) AML-05 protocol.
  International Journal of Hematology 04/2012; 86(4):358-363. · 1.27 Impact Factor
• Article: [Myelodysplastic syndrome in childhood and juvenile myelomonocytic leukemia].

  Daisuke Hasegawa, Atsushi Manabe
  Nippon rinsho. Japanese journal of clinical medicine 04/2012; 70 Suppl 2:681-6.
• Article: Long-term haematological improvement after non-intensive or no chemotherapy in juvenile myelomonocytic leukaemia and poor correlation with adult myelodysplasia spliceosome-related mutations.

  Kazuyuki Matsuda, Nao Yoshida, Shuhei Miura, Yozo Nakazawa, Kazuo Sakashita, Nobuyuki Hyakuna, Masahiro Saito, Fumiyo Kato, Atsushi Ogawa, Akihiro Watanabe, Manabu Sotomatsu, Chie Kobayashi, Toshiro Ito, Fumihiro Ishida, Atsushi Manabe, Seiji Kojima, Kenichi Koike
  British Journal of Haematology 02/2012; 157(5):647-50. · 4.94 Impact Factor
• Article: The activity of the inosine triphosphate pyrophosphatase affects toxicity of 6-mercaptopurine during maintenance therapy for acute lymphoblastic leukemia in Japanese children.

  Yoichi Tanaka, Atsushi Manabe, Hisaya Nakadate, Kensuke Kondoh, Kozue Nakamura, Katsuyoshi Koh, Tomoyuki Utano, Akira Kikuchi, Takako Komiyama
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  ABSTRACT: The association between inosine triphosphate pyrophosphatase (ITPA) activity and toxicity of 6-mercaptopurine (6-MP) was retrospectively evaluated in 65 Japanese children with acute lymphoblastic leukemia (ALL). Patients with an ITPA activity of less than 126 μmol/h/gHb presented with hepatotoxicity more frequently than those with higher ITPA activity (p<0.01). The average 6-MP dose during maintenance therapy administered to two patients with the ITPA deficiency was lower than that given to the other patients. Measuring ITPA activity is important for ensuring the safety of maintenance therapy for Asians with ALL because thiopurine S-methyl transferase mutations are rare in the Asian population.
  Leukemia research 12/2011; 36(5):560-4. · 2.36 Impact Factor
• Article: CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML).

  Norio Shiba, Daisuke Hasegawa, Myoung-ja Park, Chisato Murata, Aiko Sato-Otsubo, Chitose Ogawa, Atsushi Manabe, Hirokazu Arakawa, Seishi Ogawa, Yasuhide Hayashi
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  ABSTRACT: Familial platelet disorder with a propensity to develop acute myeloid leukemia (FPD/AML) is a rare autosomal dominant disease characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop myelodysplastic syndrome (MDS) and AML. So far, > 20 affected families have been reported. Recently, a second RUNX1 alteration has been reported; however, no additional molecular abnormalities have been found so far. We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia. This finding suggests that alterations of the CBL gene and RUNX1 gene may cooperate in the pathogenesis of CMML in patients with FPD/AML. The presence of CBL mutations and 11q-aUPD was an important "second hit" that could be an indicator of leukemic transformation of MDS or AML in patients with FPD/AML.
  Blood 12/2011; 119(11):2612-4. · 9.90 Impact Factor
• Article: [Prognosis of 75 patients with juvenile myelomonocytic leukemia: prospective study by MDS committee in the Japanese Society of Pediatric Hematology].

  Nao Yoshida, Shinsuke Hirabayashi, Shizuka Watanabe, Yuji Zaike, Masahiro Tsuchida, Ayami Yoshimi, Atsuko Masunaga, Yoshitoshi Otsuka, Masafumi Ito, Seiji Kojima, Tatsutoshi Nakahata, Atsushi Manabe
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  ABSTRACT: Juvenile myelomonocytic leukemia (JMML) is a myelodysplastic/myeloproliferative disorder of young children. Because the disease is rare and the diagnosis is difficult, a prospective registration of patients suspected of having JMML with a pathological central review have been conducted by the MDS Committee of the Japanese Society of Pediatric Hematology. Between 1999 and 2006, 75 children with JMML were enrolled and diagnosed through this system. Median age at diagnosis was 20 months (1∼85 months). Cytogenetic abnormalities were detected in 21 patients, including 11 with monosomy 7. The 5-year overall survival (OS) was 60%. Regarding the treatment, 61 of the 75 patients received stem cell transplantation (SCT). Conditioning regimen varied widely, and the source of grafts was bone marrow for 43 patients, peripheral blood for 5, and cord blood for 13. The 5-year OS after SCT was 61%. Notably, patients who received cord blood transplantation had inferior survival than those who received grafts from other sources (38 vs. 68%; P=0.03). Given better recognition of the disease, a multi-center protocol study on SCT, JMML11, is now being planned by the Japanese Pediatric Leukemia/Lymphoma Study Group.
  [Rinshō ketsueki] The Japanese journal of clinical hematology 12/2011; 52(12):1853-8.
• Article: Clinical significance of early T-cell precursor acute lymphoblastic leukaemia: results of the Tokyo Children's Cancer Study Group Study L99-15.

  Takeshi Inukai, Nobutaka Kiyokawa, Dario Campana, Elaine Coustan-Smith, Akira Kikuchi, Miyuki Kobayashi, Hiroyuki Takahashi, Katsuyoshi Koh, Atsushi Manabe, Masaaki Kumagai, Koichiro Ikuta, Yasuhide Hayashi, Masahiro Tsuchida, Kanji Sugita, Akira Ohara
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  ABSTRACT: Early T-cell precursor acute lymphoblastic leukaemia (ETP-ALL) is a recently identified subtype of T-ALL with distinctive gene expression and cell marker profiles, poor response to chemotherapy and a very high risk of relapse. We determined the reliability of restricted panel of cell markers to identify EPT-ALL using a previously classified cohort. Then, we applied the cell marker profile that best discriminated ETP-ALL to a cohort of 91 patients with T-ALL enrolled in the Tokyo Children's Cancer Study Group L99-15 study, which included allogeneic stem cell transplantation (allo-SCT) for patients with poor prednisone response. Five of the 91 patients (5·5%) met the ETP-ALL criteria. There were no significant differences in presenting clinical features between these and the remaining 86 patients. Response to early remission induction therapy was inferior in ETP-ALL as compared with T-ALL. The ETP-ALL subgroup showed a significantly poorer event-free survival (4-year rate; 40%) than the T-ALL subgroup (70%, P=0·014). Of note, three of four relapsed ETP-ALL patients survived after allo-SCT, indicating that allo-SCT can be effective for this drug-resistant subtype of T-ALL.
  British Journal of Haematology 11/2011; 156(3):358-65. · 4.94 Impact Factor
• Article: [Bone marrow findings of childhood aplastic anemia: analyses of 140 cases by central reviewers].

  Asahito Hama, Ayami Yoshimi, Hirotoshi Sakaguchi, Sayoko Doisaki, Hideki Muramatsu, Akira Shimada, Yoshiyuki Takahashi, Kazue Nozawa, Masafumi Ito, Masahiro Tsuchida, Atsushi Manabe, Akira Ohara, Seiji Kojima
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  ABSTRACT: The revised WHO classification proposed the term "refractory cytopenia of childhood (RCC)" for children with myelodysplastic syndrome (MDS) with a low blast count. The differential diagnosis between RCC and aplastic anemia (AA) is challenging, especially when bone marrow is hypoplastic and there is no detectable chromosomal abnormality. To reveal the difference between AA and RCC with respect to the clinical and biological features, we retrospectively reviewed the bone marrow smears of 140 patients registered for childhood AA-97 study, which were classified into three groups as follows; the AA group was defined as having no morphologically dysplastic changes; the AA-RCC borderline group was defined as having <10% dysplastic changes in the erythroid lineage only; and the RCC group was defined as having dysplastic changes in more than two cell lineages or >10% in a single cell lineage. The patients were classified into the AA group (n=96, 69%), AA-RCC borderline group (n=20, 14%) and RCC group (n=24, 17%). Most of the patients in the AA group were classified as having very severe disease, whereas most of the patients in the RCC group were classified as non-severe disease. Only 2 patients in the AA group developed acute myeloid leukemia. The response rate to immunosuppressive therapy did not differ among the 3 groups. To demonstrate whether the two diseases are truly different entities, it is necessary to compare molecular backgrounds between the AA and RCC groups.
  [Rinshō ketsueki] The Japanese journal of clinical hematology 08/2011; 52(8):653-8.
• Article: Intellectual development after treatment in children with acute leukemia and brain tumor.

  Shizuka Watanabe, Yuriko Azami, Miwa Ozawa, Takahiro Kamiya, Daisuke Hasegawa, Chitose Ogawa, Yasushi Ishida, Ryota Hosoya, Junko Kizu, Atsushi Manabe
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  ABSTRACT: The influence of central nervous system (CNS)-directed chemotherapy on intelligence remains controversial. In this study, we investigated the influence of treatment on intellectual development in acute lymphoblastic leukemia (ALL) and brain tumor patients undergoing CNS-directed treatments. Among patients treated in the Department of Pediatrics, St Luke's International Hospital between April 2000 and March 2009, the subjects were 38 patients with ALL or brain tumors who underwent regular Wechsler intelligence tests. The subjects consisted of 26 patients with ALL and 12 with brain tumors. Prophylactic cranial irradiation was not performed in patients with ALL, whereas it was done for all those with brain tumor. In patients with ALL, the IQ 1 year later was not changed from the start of treatment. In those with brain tumors, the verbal IQ 1 year later was significantly lower than that at the start of treatment. In patients with ALL, intelligence tests were performed 3 years after the start of treatment and there were no marked changes between the two time-points (n = 11). In those with a brain tumor, intellectual functions further decreased after the completion of treatment to as late as 5 years after the initiation of treatment (n = 7). There is no intellectual impairment in any patient with ALL at post-treatment follow-up 3 years after the start of treatment, while intelligence is serially reduced in brain tumor patients. An innovative intervention may be needed for this group of patients.
  Pediatrics International 03/2011; 53(5):694-700. · 0.63 Impact Factor
• Article: The utility of performing the initial lumbar puncture on day 8 in remission induction therapy for childhood acute lymphoblastic leukemia: TCCSG L99-15 study.

  Daisuke Hasegawa, Atsushi Manabe, Akira Ohara, Akira Kikuchi, Katsuyoshi Koh, Nobutaka Kiyokawa, Takashi Fukushima, Yasushi Ishida, Tomohiro Saito, Ryoji Hanada, Masahiro Tsuchida
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  ABSTRACT: Traumatic lumbar puncture with leukemic blasts (TLP+), which has been reported to occur 5-10%, in the previous studies, adversely affects the outcome of children with acute lymphoblastic leukemia (ALL). Based on the results from our previous study, we deferred the initial lumbar puncture until day 8 in remission induction therapy in order to reduce the frequency of cases with TLP+. The study was conducted as a prospective cohort study within the Tokyo Children's Cancer Study Group (TCCSG) L99-15 study. Between April 1999 and June 2003, 754 children with newly diagnosed ALL enrolled. The patients received the initial intrathecal chemotherapy after 7 days of prednisolone treatment. The incidence of central nervous system (CNS)-positive (the presence of leukemic blasts in cerebrospinal fluid or cranial nerve palsy) including TLP+ cases and cumulative incidence of CNS relapse were examined. The incidence of CNS-positive and TLP+ was 2.9% (n = 22) and 0.8% (n = 6), respectively. These incidences were much lower than those in the representative study groups employing the initial IT on day 1. Of 22 patients with CNS-positive, only one patient relapsed in CNS, whereas 22 of the remaining CNS-negative 723 patients suffered from CNS relapse. Overall, event-free survival at 4 year was 78.2 ± 1.6%. Four-year cumulative incidence of any CNS relapse was 3.3 ± 0.7%, which improved from our previous study in spite of limiting the use of cranial irradiation. Our strategy reduced the frequency of CNS-positive patients who required reinforcement of CNS-directed therapy without compromising overall outcome.
  Pediatric Blood & Cancer 01/2011; 58(1):23-30. · 1.89 Impact Factor
• Source

  Available from: Kiyoko Kamibeppu

  Article: Validation of the Japanese version of the Pediatric Quality of Life Inventory (PedsQL) Cancer Module.

  Naoko Tsuji, Naoko Kakee, Yasushi Ishida, Keiko Asami, Ken Tabuchi, Hisaya Nakadate, Tsuyako Iwai, Miho Maeda, Jun Okamura, Takuro Kazama, Yoko Terao, Wataru Ohyama, Yuki Yuza, Takashi Kaneko, Atsushi Manabe, Kyoko Kobayashi, Kiyoko Kamibeppu, Eisuke Matsushima
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  ABSTRACT: The PedsQL 3.0 Cancer Module is a widely used instrument to measure pediatric cancer specific health-related quality of life (HRQOL) for children aged 2 to 18 years. We developed the Japanese version of the PedsQL Cancer Module and investigated its reliability and validity among Japanese children and their parents. Participants were 212 children with cancer and 253 of their parents. Reliability was determined by internal consistency using Cronbach's coefficient alpha and test-retest reliability using intra-class correlation coefficient (ICC). Validity was assessed through factor validity, convergent and discriminant validity, concurrent validity, and clinical validity. Factor validity was examined by exploratory factor analysis. Convergent and discriminant validity were examined by multitrait scaling analysis. Concurrent validity was assessed using Spearman's correlation coefficients between the Cancer Module and Generic Core Scales, and the comparison of the scores of child self-reports with those of other self-rating depression scales for children. Clinical validity was assessed by comparing the on- and off- treatment scores using Kruskal-Wallis and Mann-Whitney U tests. Cronbach's coefficient alpha was over 0.70 for the total scale and over 0.60 for each subscale by age except for the 'pain and hurt' subscale for children aged 5 to 7 years. For test-retest reliability, the ICC exceeded 0.70 for the total scale for each age. Exploratory factor analysis demonstrated sufficient factorial validity. Multitrait scaling analysis showed high success rates. Strong correlations were found between the reports by children and their parents, and the scores of the Cancer Module and the Generic Core Scales except for 'treatment anxiety' subscales for child reports. The Depression Self-Rating Scale for Children (DSRS-C) scores were significantly correlated with emotional domains and the total score of the cancer module. Children who had been off treatment over 12 months demonstrated significantly higher scores than those on treatment. The results demonstrate the reliability and validity of the Japanese version of the PedsQL Cancer Module among Japanese children.
  Health and Quality of Life Outcomes 01/2011; 9:22. · 2.11 Impact Factor
• Article: Congenital dyserythropoietic anemia.

  Takahiro Kamiya, Atsushi Manabe
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  ABSTRACT: Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of rare hereditary disorders of erythropoiesis characterized by morphologic abnormal erythroblasts in the bone marrow. Three types of the disease are known as type I, II and III, and the variant type of CDA and several minor subgroups of CDA have been also reported since the first classification. Recently, responsible genes for type I (CDAN1) and type II (SEC23B) have been identified and the molecular pathogenesis of the disease is currently being explored. Although CDAs rarely transform to myelodysplastic syndrome or leukemia, the disease is important to understand the mechanism of hemopoiesis in humans.
  International journal of hematology 10/2010; 92(3):432-8. · 1.17 Impact Factor
• Article: Bullous exudative retinal detachment due to infiltration of leukemic cells in a child with acute lymphoblastic leukemia.

  Kenichi Yoshida, Daisuke Hasegawa, Ayako Takusagawa, Itaru Kato, Chitose Ogawa, Nariaki Echizen, Kishiko Ohkoshi, Tatsuo Yamaguchi, Ryota Hosoya, Atsushi Manabe
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  ABSTRACT: Acute lymphoblastic leukemia (ALL) is known to cause several ocular involvements, but exudative retinal detachment is a rare complication. We describe a case report of a 4-year-old boy with T cell ALL who developed bilateral exudative retinal detachment caused by leukemic infiltration in the retinas after achieving hematological remission. Intravenous steroid pulse therapy and local irradiation reversed the condition, but it recurred concurrently with disease progression after a second relapse in the bone marrow. It is suggested that ophthalmic examination is crucial for ALL patients, especially for those whose white blood cell count is very high at onset.
  International journal of hematology 10/2010; 92(3):535-7. · 1.17 Impact Factor
• Article: Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations.

  Yuka Sugimoto, Hideki Muramatsu, Hideki Makishima, Courtney Prince, Anna M Jankowska, Nao Yoshida, Yinyan Xu, Nobuhiro Nishio, Asahito Hama, Hiroshi Yagasaki, Yoshiyuki Takahashi, Koji Kato, Atsushi Manabe, Seiji Kojima, Jaroslaw P Maciejewski
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  ABSTRACT: Mutations in NF1, PTPN11, NRAS, KRAS and CBL have been reported to play a pathogenetic role in juvenile myelomonocytic leukaemia (JMML), a rare myelodyplastic/myeloproliferative neoplasm occurring in children. Recently, mutations in ASXL1 were identified in chronic myelomonocytic leukaemia and other myeloid malignancies. We sequenced exon 12 of ASLX1 in 49 JMML patients, and found 2 novel heterozygous (nonsense and frameshift) mutations, one occurring as a sole lesion, the other was in conjunction with a PTPN11 mutation. ASXL1 cooperates with KDM1A in transcriptional repression and thereby ASXL1 mutations may synergize with or mimic other JMML-related mutations.
  British Journal of Haematology 07/2010; 150(1):83-7. · 4.94 Impact Factor