Machiko Kawamura

Saitama Cancer Center, Saitama, Saitama, Japan

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Publications (15)27.58 Total impact

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    ABSTRACT: A man in his early forties who had undergone 3 years of unsuccessful treatment for infertility due to oligospermia and asthenospermia developed fever and bone pain in December 20XX. He was subsequently diagnosed with acute lymphocytic leukemia. Conventional cytogenetic analysis revealed Robertsonian translocation (RT) with der(13;14)(q10;q10) in addition to the Philadelphia (Ph) chromosome. Dasatinib and prednisolone induced complete remission (CR) with disappearance of the Ph chromosome. However, RT persisted despite achieving CR. We speculate that RT is possibly congenital in our present case and might also have been responsible for the aforementioned infertility. Hematologists should be aware of the possibility that congenital chromosomal disorders might be found incidentally through diagnostic chromosome analysis for leukemia.
    No preview · Article · Jun 2015 · [Rinshō ketsueki] The Japanese journal of clinical hematology
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    ABSTRACT: We have identified a novel SPAG9-JAK2 fusion in a B-cell precursor acute lymphoblastic leukemia (ALL) with t(9;17)(p24;q21) and a poor outcome, using paired-end transcriptome sequencing. Homozygous deletions of CDKN2B and CDKN2B hemizygous deletions of CDKN2A, PAX5, BTG1, CDK6, ADARB2, and IKZF1 were also identified by multiple ligation-dependent probe amplification and single nucleotide polymorphism array analyses. Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    No preview · Article · May 2015 · Genes Chromosomes and Cancer
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    Full-text · Article · Aug 2011 · International journal of hematology
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    ABSTRACT: Patients diagnosed with t(8;21)-acute myeloid leukemia (AML) are currently considered to have good prognoses, but about half of these patients relapse. FLT3-internal tandem duplication (ITD) is generally thought to be strongly associated with poor prognosis in AML, but is rarely reported in patients with t(8;21)-AML. Expression of the neural cell-adhesion molecule (CD56) is also associated with a significantly shorter complete remission duration and survival in patients with t(8;21)-AML. Patients with t(8;21)-AML expressing CD56 have been reported to exhibit a higher incidence of granulocytic sarcoma (GS), and t(8;21)-AML with GS results in a less favorable prognosis than AML with this translocation alone. Here, we report on a 15-year-old girl with t(8;21)-AML having both CD56 expression and FLT3-ITD. This patient underwent unrelated donor bone marrow transplantation and achieved complete remission, but thereafter presented with obstructive jaundice caused by GS compression of the common bile duct without bone marrow invasion at relapse. Autopsy revealed multiple nodules of the stomach membrane and invasion into the head of the pancreas. For earlier detection of relapse, we suggest that it would be useful to examine existence of GS in CD56-positive t(8;21)-AML patients at diagnosis and hematologic remission. Even though t(8;21)-AML is less likely to co-occur with FLT3-ITD in pediatric patients, this report suggests that prognostic factors, including FLT3 and KIT genes and the surface marker CD56, should be analyzed in these patients.
    No preview · Article · Dec 2010 · Cancer genetics and cytogenetics
  • Machiko Kawamura

    No preview · Article · Jun 2010 · Nippon rinsho. Japanese journal of clinical medicine
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    ABSTRACT: Recent studies have shown that high BAALC expression predicts an adverse prognosis and may define an important risk factor in acute myeloid leukemia patients with normal karyotype. We performed, using real-time quantitative reverse transcriptase polymerase chain reaction (RQ-PCR), the molecular analysis of BAALC gene as a possible minimal residual disease (MRD) marker in 45 patients with newly diagnosed acute leukemia. BAALC transcript levels in 32 patients with CD34 expressed in leukemic blasts were 2-3 logs higher than background levels, and the copy number was reduced in patients achieving hematological remission. Comparative monitoring of MRD by RQ-PCR for the Wilms' tumor gene 1(WT1) or specific translocation markers demonstrated that BAALC had similar kinetics as WT1, AML1/ETO and minor BCR/ABL, but not PML/RARA. Quantitation of BAALC gene expression made it possible to assess MRD in patients with CD34-positive acute leukemia. To our knowledge, this is the first report concerning the use of BAALC mRNA expression for MRD monitoring.
    No preview · Article · Apr 2010 · International journal of hematology
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    ABSTRACT: Hemophagocytic lymphohistiocytosis (HLH) is characterized by hypercytokinemia caused by macrophage and T cell activation. We analyzed the serum concentrations of monocyte chemoattractant protein (MCP)-1, macrophage inflammatory protein (MIP)-1beta, and interleukin (IL)-8 to investigate the roles of these chemokines in the pathophysiology of HLH. Seven patients clinically diagnosed with HLH were examined. Serum cytokines and chemokines were measured. The differences in the serum concentrations between the patients with HLH and the controls were investigated. In patients with an active phase of HLH, the serum MCP-1, MIP-1beta, and IL-8 levels all were significantly higher than in healthy controls. The chemokine elevations decreased rapidly after initiation of chemotherapy. During increases in disease activity, elevation of MCP-1 and MIP-1beta preceded elevation of the serum ferritin level, which is a clinical indicator of HLH disease activity. These results suggest that MCP-1, MIP-1beta, and IL-8 play important roles in the pathophysiology of HLH. In addition, the serum concentrations of these chemokines may be sensitive markers for assessing disease activity in patients with HLH.
    No preview · Article · Nov 2008 · Pediatric Blood & Cancer
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    ABSTRACT: The prognosis of leukemia developed in Down syndrome (DS) patients has improved markedly. Most DS leukemia occurs before 3 years of age and is classified as acute megakaryocytic leukemia (AMKL). Mutations in the GATA1 gene have been found in almost all DS patients with AMKL. In contrast, it has been shown that occurrence of DS acute myeloid leukemia (DS-AML) after 3 years of age may indicate a higher risk for a poor prognosis, but its frequency is very low. Age is one of the significant prognostic indicators in DS-AML. The prognostic factor of gene alterations has not been reported in older DS-AML patients. We here describe the case of a 7-year-old DS boy with AML-M2, who had no history of transient abnormal myelopoiesis or any clinical poor prognostic factors, such as high white blood cell counts or extramedullary infiltration. We molecularly analyzed the GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 (previously AML1) genes and did not detect any alterations. The patient has lived for more than 5 years after treatment on the AML99-Down protocol in Japan. This suggests that a patient lacking these genes alterations might belong to a subgroup of older DS-AML patients with good prognosis. Accumulation of more data on older pediatric DS-AML patients is needed.
    No preview · Article · Feb 2008 · Cancer Genetics and Cytogenetics
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    ABSTRACT: We report the case of a 21-month-old boy with urinary retention secondary to aseptic meningitis. After high fever for 10 days, appetite loss, somnolence, acute transient urinary retention, constipation and mild dysesthesia in bilateral lower limbs developed. Brisk reflexes were present in the lower extremities along with a positive Babinski reflex. Cerebrospinal fluid (CSF) examination revealed mild mononuclear cell-dominant pleocytosis. Human herpes virus (HHV)-6 was not detected in the CSF by polymerase chain reaction (PCR) analysis; however, it was detected in the throat, plasma, and mononuclear cells of the peripheral blood. Virus-specific immunoglobulin M antibodies against HHV-6 were not detected by enzyme immunoassay. Brain magnetic resonance imaging (MRI) yielded normal results; however, T1-weighted MRI of the conus terminalis with contrast enhancement showed region of high intensity from the lower thoracic to lumbar meninges. In T2-weighted imaging, slight hyperintensity was observed in the lumbar spinal cord without enhancement effect. The catheter was removed 1 week after high-dose intravenous methyl-prednisolone treatment and the patient was able to walk 3 weeks later without any sequelae. Vesicorectal disturbance and the neurological symptoms observed in aseptic meningitis were similar to those of HSV type 2-induced lumbosacral meningo-radiculitis, designated as Elsberg syndrome or meningitis-retention syndrome in adults. The recurrence of HHV-6 might be immunologically related to this meningitis-retention syndrome based on the results of PCR analysis and enzyme immunoassay for virus-specific antibodies. Several reports have described lumbosacral meningo-radiculitis in adults and older children, but this appears to be particularly rare in infants.
    No preview · Article · Dec 2007 · Brain and nerve = Shinkei kenkyū no shinpo
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    Preview · Article · Oct 2006 · British Journal of Haematology
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    ABSTRACT: We investigated the alterations of the p53, p21, p16, p15 and RAS genes in childhood T-cell acute lymphoblastic leukemia (T-ALL) and T-ALL cell lines by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing. Mutations of the p53 gene were found in three of 57 (5%) patients at diagnosis, one of 14 (7%) patients at relapse and in 12 of 18 (67%) cell lines. In these 12 cell lines, four had more than two mutations of the p53 gene. The p53 mutations were found in four of five cell lines whose original fresh leukemic cells were simultaneously examined original fresh leukemic cells. However, only one of the four fresh leukemic cells had the same mutation. All patients with p53 mutations in the course of disease died. Mutations of the p21 gene were not identified in 71 fresh samples and in 18 cell lines. N-RAS mutations were found in two of 57 (4%) fresh T-ALL patients at diagnosis, and four of 18 cell lines (22%), whereas no mutations were detected in any samples at relapse. Alterations of the p16 gene were found in 18 of 47 (38%) patients at diagnosis and in seven of 14 (50%) at relapse. These differences were not statistically significant. There were no differences in the frequency of alteration of the p16 and p15 genes between event-free patients and the remaining patients. Furthermore, we found the methylation of p16 gene in three of seven patients lacking homozygous deletions, suggesting higher frequency of p16 inactivation than previous reports in T-ALL. Interestingly, we found that one allele is inactivated by methylation and another allele had nonsense mutation in one cell line (KOPT-KI), resulting in loss of protein expression of p16. This type of p16 inactivation has not been so far reported in leukemia. We conclude that, (1) p53 mutations are infrequent at diagnosis but tend to be associated with poor clinical outcome; (2) RAS and p21 mutations may not be involved in the pathogenesis of T-ALL; (3) not only frequent alterations of p16 and p15 genes but also methylation of p16 gene are involved in initiating the leukemogenesis of T-ALLs, and (4) these 5 genes are independently involved in T-ALL.
    No preview · Article · Mar 1999 · Leukemia Research
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    ABSTRACT: Using the polymerase chain reaction-single strand conformation polymorphism method and direct sequencing, 12 acute myeloid leukemia (AML) cell lines and 108 fresh childhood myeloid tumor specimens, including 67 AML, 29 myelodysplastic syndrome (MDS), and 12 juvenile chronic myelocytic leukemia (JCML) were examined for mutation in H-, K-, and N-RAS genes. The mutation was found in eight of the 120 samples (6.7%), which consisted of four cell lines (33.3%) and four fresh myeloid tumors (3.7%). The frequency of the mutation in the cell lines was apparently higher than that in fresh myeloid tumors. K-RAS gene mutations were found in two of the 67 fresh AML specimens (3%). Interestingly, these two patients had 11q23 translocations. The N-RAS gene mutation was found in one of the 29 specimens (3.4%) of MDS and in one of the 12 specimens (8.3%) of JCML. All mutations were found in codon 12, 13 or 61 of the N-RAS and K-RAS genes. Frequency of mutation of RAS genes in fresh myeloid malignancies was very low. These findings suggest that mutation of RAS genes does not play an important role in the development of childhood myeloid malignancies.
    No preview · Article · Sep 1997 · Leukemia Research
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    ABSTRACT: We have investigated the mutation of the TP53 gene in hepatoblastomas (HBLs) by using polymerase chain reaction-single strand conformation polymorphism and direct sequencing in 38 HBL tumor samples and in two HBL cell lines. We detected the TP53 gene mutation in an anaplastic hepatoblastoma cell line, but no aberration of the TP53 gene (exons 5–9) was found in tumor samples and in the other HBL cell line. The mutation of the cell line was a missense mutation from GAC (asparagine) to CAC (histidine) at codon 281, which was different from the G-to-T transversion of codon 249 that is frequently found in adult hepatocellular carcinomas (HCCs). In addition, we performed Southern blot analysis of the MDM2 gene, but we did not find MDM2 gene amplification in 19 cases tested. Our results suggest that, in contrast to the findings in HCCs in adults, TP53 gene aberrations are not involved in the development or progression of HBLs in children. Genes Chromosom Cancer 15:187–190 (1996). © 1996 Wiley-Liss, Inc.
    No preview · Article · Mar 1996 · Genes Chromosomes and Cancer

  • No preview · Article · Jan 1996
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    ABSTRACT: We have investigated the frequency of p53 gene mutations in Ewing's sarcoma (ES) and neuroblastoma (NB) by using polymerase chain reac tion-single strand conformation polymorphism analysis for genomic DNA or complementary DNA generated from total RNA. Mutations of the p53 gene were found in six of seven ES cell lines: a missense mutation of TGC (Cys)-»TAC (Try) at codon 141 in one, a missense mutation of CGT (Arg)-»TGT (Cys) at codon 273 in one, a missense mutation of TGC (Cys)-»TTC (Phe) at codon 176 in three, and one base deletion of CGC-»CGat codon 283 in one. Further analysis of 14 ES and related primary tumors showed mutations of the p53 gene in only two: one base insertion of CCGâ€"»CCCG at codon 152 in one and a missense mutation of GGC (Gly)-»GTC(Val) at codon 154 in the other. Both of the two tumors were obtained from patients with an advanced stage disease. Three of the eight ESs with mutations of the p53 gene showed the same missense mutation at codon 176, suggesting the mutational hot spot of the/753 gene in ESs. In contrast to ES, none of 6 NB cell lines or 48 NB tumors including advanced-stage ones with or without N-myt? amplification showed any aberration of the p53 gene. Our findings suggest that mutations of the p53 gene in ES might represent late genetic events related to tumor progres sion, and that aberrations of the p53 gene might not be involved in the development or the progression of NB.
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Publication Stats

217 Citations
27.58 Total Impact Points


  • 2015
    • Saitama Cancer Center
      Saitama, Saitama, Japan
  • 2011
    • Tokyo Metropolitan Cancer and Infectious Diseases Center
      Edo, Tōkyō, Japan
  • 2006-2010
    • Tokyo Metropolitan Komagome Hospital
      Edo, Tōkyō, Japan
  • 1996-1999
    • The University of Tokyo
      • • Department of Pediatrics
      • • Department of Pediatric Surgery
      Edo, Tōkyō, Japan