[Clinical efficacy of high-dose cepharanthine for idiopathic thrombocytopenic purpura: retrospective multicenter analysis].

Cepharanthine (CEP), an alkaloid drug that has a cell membrane stabilizing effect and an immunomodulating effect, has been reported to improve symptoms and signs of chronic immune thrombocytopenia (ITP). In this study, we retrospectively assessed the clinical efficacy and adverse events of high-dose CEP for 47 patients with ITP. The response rate (elevation of platelet count>5×10(4)/µl) was 44%, and CEP treatment was judged useful in clinical aspects by their attending doctors in 77% of the cases. Next, we made a comparative analysis between patients who were administered CEP as a single agent (22 patients) and those administered CEP in combination therapy with prednisolone (PSL) (20 patients). There was a marked increase in platelet count in both groups compared to the count before CEP treatment (P<0.01), and no significant difference was seen between the two groups. High-dose CEP was well tolerated, and in some patients single-agent CEP therapy resulted in a significant elevation of platelets, allowing a reduced dosage of PSL.

Hypokalemic rhabdomyolysis due to WDHA syndrome caused by VIP-producing composite pheochromocytoma: a case in neurofibromatosis type 1.

A 47-year-old woman with neurofibromatosis type 1 suffered from general muscle weakness and watery diarrhea. Laboratory findings showed elevated muscular enzymes, severe hypokalemia and excessive production of catecholamines and vasoactive intestinal polypeptide (VIP). A computed tomography scan showed a 10 cm left adrenal mass, in which [(131)I]-metaiodobenzylguanidine scintigraphy showed high uptake. After she underwent surgical removal of the tumor, all the symptoms and signs subsided. A histological study revealed that the mass consisted of pheochromocytoma and ganglioneuroma, respectively producing catecholamines and VIP. In immunohistochemical staining of neurofibromin, pheochromocytoma and ganglion cells showed positive staining, whereas the staining was negative for nerve bundles and Schwann cells. We concluded that the patient had hypokalemic rhabdomyolysis due to watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome, which was induced by a VIP-producing composite pheochromocytoma. Composite pheochromocytoma is a neuroendocrine tumor that is composed of pheochromocytoma and ganglioneuroma, both derived from the neural crest. Deficiency of neurofibromin in Schwann cells might have played an important role in the development and the growth of the composite pheochromocytoma in this patient.

Insertion (21;8)(q22;q22q22): a masked t(8;21) in a patient with acute myelocytic leukemia.

A 43-year-old man was diagnosed with acute myelocytic leukemia with cellular maturation (AML-M2, according to the French-American-British classification criteria). A cytogenetic study with a G-banding method initially reported the karyotype as 45,X,-Y; however, dual-color, dual-fusion fluorescence in situ hybridization (FISH) with probes for the AML1 and the ETO genes showed an unusual pattern of signals, presenting one fusion signal on chromosome 21. Molecular study by reverse transcriptase polymerase chain reaction revealed the presence of a typical AML1/ETO chimeric gene. FISH with whole-chromosome painting probes targeting chromosomes 8 and 21 revealed insertion of part of 8 chromosome into the long arm of chromosome 21. We concluded that complicated translocations involving chromosomes 8 and 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. This aberrant location of AML1/ETO gene and the final karyotype of 45,X,-Y,ins(21;8)(q22;q22q22) could not be determined without molecular analysis. This abnormality is considered a masked t(8;21).

A case of myelodysplastic syndrome developed blastic crisis of chronic myelogenous leukemia with acquisition of major BCR/ABL.

We describe a rare case of myelodysplastic syndrome that developed chronic myelogeneous leukemia with acquisition of Philadelphia chromosome. The major BCR/ABL transcript was confirmed by molecular analysis. Shortly thereafter, the patient showed transformation to blastic crisis. Hematological remission was achieved after 3 months of treatment with imatinib mesylate. The patient relapsed with additional chromosomal abnormalities and the disease became refractory to the treatment. Acquisition of the Philadelphia chromosome is an infrequent event in myelodysplastic syndrome, and the addition of this change to the initial genetic abnormality that caused MDS may have been associated with the accelerated clinical course of this patient.