JAK2 V617F-dependent upregulation of PU.1 expression in the peripheral blood of myeloproliferative neoplasm patients.

Myeloproliferative neoplasms (MPN) are multiple disease entities characterized by clonal expansion of one or more of the myeloid lineages (i.e. granulocytic, erythroid, megakaryocytic and mast cell).

Transient abnormal myelopoiesis in a Down syndrome newborn followed by acute myeloid leukemia: identification of the same chromosomal abnormality in both stages.

A transient abnormal myelopoiesis was observed in a newborn with Down syndrome. Cytogenetic study revealed multiple oligoclonal abnormalities: 47,XY,inv(6)(p23q21),+21c[3]/47,XY,der(7)t(1;7)(q25;p15),+21c[1]/47,XY,del(13)(q?),+21c[1]/47,XY,+21c[15]. Ten months after the patient achieved remission, the transient abnormal myelopoiesis evolved to an acute megakaryoblastic leukemia.

Establishment of real-time polymerase chain reaction method for quantitative analysis of asparagine synthetase expression.

We established a real-time quantitative PCR (RQ-PCR) with which to measure abundance of the asparagine synthetase (AS) mRNA. The level of AS mRNA paralleled AS enzyme activity, as well as the AS protein level detected by Western blotting and by in situ immunostaining. Cytotoxicity tests in vitro showed that the AS mRNA level also synchronized with cellular resistance to L-asparaginase in cell lines.

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.

The authors report 2 male patients with dyskeratosis congenita (DC) in a Japanese kindred. Sequencing of the complementary DNA of the dyskerin gene (DKC1) revealed a T-to-C transition at nucleotide 1285 in exon 12 that resulted in a novel missense mutation L398P. Despite harboring the same mutation in the DKC1 gene, one patient had significantly milder hematological symptoms than the other, indicating that there may be other factors that determine the severity of DC.