Michihiko Katsuura

Severe hypertension and cardiac failure associated with neuroblastoma: A case report

The authors report on 3-year-old-girl with neuroblastoma complicated by severe hypertension and cardiac failure. She had cardiomegaly and pleural and pericardial effusions. Echocardiogram showed left ventricular hypertrophy and decrease of the left ventricular ejection fraction to 0.36 (normal > .40). Abdominal computed tomographic scan indicated a 7 x 7-cm tumor in the left suprarenal area. There was a marked increase in catecholamines and metabolites in her body fluids. After hypertension was controlled with doxazosin (a long-acting alpha 1 adrenergic blocker), her cardiac function gradually improved. A tumor was surgically removed and diagnosed as a poorly differentiated ganglioneuroblastoma. Preoperative differentiation between neuroblastoma and pheochromocytoma was not possible on the basis of catecholamine analysis or imaging studies including computed tomography scan and magnetic resonance imaging. It is important to control hypertension quickly in the patients with catecholamine-induced cardiomyopathy to facilitate surgical intervention for diagnosis and treatment.

Novel breakpoints of the EWS gene and the WT1 gene in a desmoplastic small round cell tumor.

We report here a 15-year-old boy with an intraabdominal desmoplastic small round cell tumor (DSRCT). Cytogenetic analysis of the tumor cells showed the chromosomal translocation (11;22). Reverse-transcriptase polymerase chain reaction and sequencing analysis revealed a chimeric transcriptional message of the EWS gene exon 10 fused to the WT1 gene exon 8. The typical chimeric transcript seen in DSRCT is an in-frame fusion of EWS exon 7 to WT1 exon 8. The tumor in this case had a novel and longer chimeric transcript, which should be a potent transcription factor. Genetic analysis is a very powerful and specific aid in the differential diagnosis of small round cell tumors.

Successful unrelated donor bone marrow transplantation for shwachman-diamond syndrome with leukemia

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful results are rarely obtained. Poor outcomes are often related to graft failure and cardiac and other organ toxicitics. We describe in this report successful unrelated donor bone marrow transplantation for a patient with SDS who progressed to acute myelogenous leukemia. The patient received attenuated intensified chemotherapy because of his intolerance to ordinary chemotherapy and went into remission. Sustained unrelated donor bone marrow engraftment was accomplished after treatment with a reduced amount of cyclophosphamide and antithymocyte globulin with 12 Gy of total body irradiation as a conditioning regimen. To the best of our knowledge, this report is the first to describe unrelated donor bone marrow transplantation with complete engraftment for an SDS patient with myelogenous leukemia.

Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα

Purpose The genetic basis of Bernard-Soulier syndrome (BSS) was studied to clarify a relationship between severe clinical manifestations and gene abnormality. Patient and Methods A patient with BSS had a severe bleeding tendency that was sometimes life threatening. Flow cytometric analysis of the patients and normal control platelets was performed to study which glycoprotein (GP) was impaired in glycoprotein Ib/V/IX complex. The genes encoding GPIbα from the patients and control genomic DNA were amplified and directly sequenced. Results Flow cytometric analysis revealed a defect of GPIbα on the surface of the patients platelets. A homozygous single base pair deletion was identified in seven repeats of adenine at positions 1932 to 1938 in the GPIbα gene. This mutation, which has been previously reported, results in a frameshift and predicts a premature stop codon leading to a truncated peptide that cannot fix on the platelet membrane. Conclusion This patients severe clinical phenotype would be explained by this mutation in the GPIbα gene.

Multiple sulphatase deficiency and haemophagocytic syndrome

Abstract A 3-year-old boy with multiple sulphatase deficiency, complicated by a haemophagocytic syndrome, recovered with conventional treatment. Haemophagocytic syndrome can be a complication of many disorders including metabolic diseases, frequently triggered by intracellular viral and bacterial infections or even by drug administration.

CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen

Background: The function of CD48, one of the pan leukocyte cell surface antigens, is not yet well understood. CD48 was recently shown to enhance the CD40‐mediated activating signal to B lymphocytes. As CD48 is one of the activation antigens of monocytes, neutrophils and lymphocytes, a change of its expression on the cells could be expected in infectious diseases.

Haemophagocytic lymphohistiocytosis following measles vaccination

A 19-month-old girl developed haemophagocytic lymphohistiocytosis following a measles vaccination. She developed persistent high fever 1 week after vaccination, and then showed pancytopenia, liver dysfunction and hepatosplenomegaly with marked haemophagocytosis. Based on the clinical and laboratory findings, she was diagnosed as having haemophagocytic lymphohistiocytosis probably due to measles vaccination. She did not respond fully to first-line immunosuppressive therapy and required immunochemotherapy with cytotoxic drugs. Conclusion: to the best of our knowledge, this is the first detailed report of haemophagocytic lymphohistiocyosis associated with measles vaccination documented in the English literature. Haemophagocytic lymphohistiocyosis should be kept in mind as one of the rare adverse effects of vaccination.

Intermittent jaundice in patients with acute leukaemia : A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among asians

The Gly71Arg mutation of the hepatic bilirubin UDP glucuronosyltransferase (B-UGT) gene associated with Gilbert syndrome prevails among Japanese and its gene frequency is 0.13. Among 20 patients with acute leukaemia, 4 patients showed intermittent unconjugated hyperbilirubinaemia during the course of combined chemotherapy. The Gly71Arg mutation was detected in all 4 patients with hyperbilirubinaemia, but was not found in 16 patients without hyperbilirubinaemia. Two of them were heterozygotes and one was a homozygote for the Gly71Arg mutation, and the other was a compound heterozygote of the Gly71Arg mutation and TA insertion mutation in the TATA box of the B-UGT gene. In addition to the complications leading to hyperbilirubinaemia, including liver damage due to drugs, viral infections or tumour cell infiltrations and alloimmune haemolysis, carrier status for the Gly71Arg mutation should be considered in a patient with leukaemia showing intermittent hyperbilirubinaemia during the course of chemotherapy, especially among Japanese, Koreans and Chinese owing to its prevalence in those populations.

Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)]

We report on a 2-year-old girl with probable limb-girdle muscular dystrophy associated with an extra-abdominal desmoid tumor of the right mandible. This association is previously undescribed. The tumor was totally removed. Cytogenetic analysis of the tumor showed a clonal karyotypic abnormality: 46,XX,add(1)(p36) in 3 of 20 cells analyzed. Since an association of a neoplasm with limb-girdle muscular dystrophy has previously been reported in 3 cases, the two abnormalities are likely related causally. The chromosome abnormality in our patient may play a role in the occurrence of her desmoid tumor.

Lipoblastoma with aberration in the long arm of chromosome 8.

Abstract We report a case of lipoblastoma in a 6-month-old girl with a new chromosomal aberration, 46, XX, der (2) add (2) (p23) del (2) (q33), add (8) (q1?). In addition to the patients age and pathological features, aberration of long arm of chromosome 8 in lipoblastoma can assist the differential diagnosis from myxoid or well differentiated liposarcoma.