BACKGROUND AND OBJECTIVE Patients with AML, RAEB-t, or RAEB and abnormalities involving chromosomes 5 and/or 7 (-5, -7) generally, but not always, have poorer prognoses than patients with a normal karyotype. Our objective was to see whether the occasional relatively favorable outcome in -5/-7 patients is a random event or, rather, reflects true heterogeneity in -5/-7. DESIGN AND METHODS We ex...

Restriction fragment length polymorphisms (RFLPs) of the X-chromosome genes hypoxanthine phosphoribosyl transferase (HPRT) and phosphoglycerate kinase (PGK) were studied in 34 female patients with primary myelodysplastic syndromes (MDS). Twelve patients (35%) were heterozygous at the HPRT or PGK loci for BamHI or BglI RFLPs, respectively. In eight patients showing PGK polymorphisms, clonality w...

A favorable prognosis and a low rate of leukemic transformation has been attributed to the 5q- syndrome, a myelodysplastic syndrome (MDS) characterized by macrocytic anemia, hypolobulated micromegakaryocytic hyperplasia, and an interstitial deletion of chromosome 5. We examined the characteristics and outcome of 43 consecutive patients in our institution strictly defined by morphologic criteria...

of viable CD41+ cells be harvested at day 14 of culture. Bcl-xL mRNA was detected at high levels in all samples of RAEB CD34+ cells at day 0, and it appeared progressively down-regulated at days 7 and 14 of culture (Figure 2A). Moreover, the Bcl-xL expression pattern was similar in control cultures and in cultures containing anti-TGF-β1 neutralizing antibody (Figure 2B). The deregulated express...

Alterations of epigenetic marks are thought to play an important role in myeloid malignancies. In particular, aberrant DNA methylation is a hallmark of these diseases. DNMT3A and DNMT3B methyltransferases have predominant role in de novo methylation of DNA. Mutations in DNMT3A have been found in roughly 20% of acute myeloid leukemia (AML). The precise mechanism by which DNMT3A may affect DNA me...

Previous studies have shown that approximately 40% of patients with myelodysplastic syndrome (MDS) and anaemia respond to treatment with human recombinant granulocyte-CSF (G-CSF) plus erythropoietin (epo). The present study was designed to investigate pre-treatment variables for their ability to predict erythroid responses to this treatment. 98 patients with MDS (30 RA, 31 RARS, 32 RAEB, five R...

Myelodysplastic Syndrome (MDS) is a problem of ineffective hematopoesis, due to a clonal disorder of the hematopoetic stem cells. MDS is rare in children and considered premalignant as it often progresses to leukemia over time. There are known inherited predisposing conditions to MDS that have been reported in the literature. We describe the case of a 12-year-old girl with multiple dysmorphic f...

Multiparametric flow cytometry is a useful co-criterion for diagnostic confirmation of MDS in patients with peripheral cytopenias and a normal karyotype. We examined the impact on patients' survival of several phenotypic aberrancies detected by a small 4-color panel of monoclonal antibodies (MoAbs). Diagnosis of the patients (54) was made by WHO criteria using peripheral blood counts, bone marr...

Tumor necrosis factor (TNF)-alpha, a potent stimulus of nuclear factor-kappaB (NF-kappaB), is up-regulated in myelodysplastic syndrome (MDS). Here, we show that bone marrow mononuclear cells (BMMCs) and purified CD34+ cells from patients with low-grade/early-stage MDS (refractory anemia/refractory anemia with ring sideroblasts [RA/RARS]) have low levels of NF-kappaB activity in nuclear extracts...

Tumor necrosis factor (TNF)– , a potent stimulus of nuclear factorB (NFB), is up-regulated in myelodysplastic syndrome (MDS). Here, we show that bone marrow mononuclear cells (BMMCs) and purified CD34 cells from patients with low-grade/early-stage MDS (refractory anemia/refractory anemia with ring sideroblasts [RA/RARS]) have low levels of NFB activity in nuclear extracts comparable with normal...