Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Translocation (6;9)(p23;q34) is a cytogenetic aberration that can be found in specific subtypes of both acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). This translocation is associated with an unfavourable prognosis. Recently, the genes involved in the t(6;9) were isolated and characterized. Breakpoints in both the dek gene on chromosome 6 and the can gene on chromosome 9 appear to occur in defined regions, which allows us to diagnose this type of leukemia at the molecular level. Moreover, because of the translocation a chimeric dek-can mRNA is formed which, as we show here, is an additional target for diagnosis via cDNA-preparation and the polymerase chain reaction (PCR). We studied 17 patients whose blood cells and/or bone marrow cells showed a t(6;9) with karyotypic analysis. Fourteen patients suffered from AML, one patient had a refractory anemia with excess of blasts in transformation (RAEBt), one patient had an acute myelofibrosis (AMF), and one patient a chronic myeloid leukemia (CML). In nine cases studies at the DNA and RNA levels were possible while in seven cases only the DNA could be analyzed. In one case only RNA was available. Conventional Southern blot analysis showed the presence of rearrangements of both the dek gene and the can gene. In both genes, breakpoints cluster in one intron in the patients investigated. The presence of a consistent chimeric dek-can product after cDNA preparation followed by the PCR was demonstrated. We conclude from our data that the t(6;9) is found in myeloproliferative disorders with typical clinical characteristics. This translocation results in highly consistent abnormalities at the molecular level.
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PMID:The translocation (6;9) (p23;q34) shows consistent rearrangement of two genes and defines a myeloproliferative disorder with specific clinical features. 158 43

The translocation (6;9)(p23;q34) is mainly found in specific subtypes of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). The diagnosis of this translocation is not easy since the cytogenetic change is quite subtle. The two genes involved in this translocation were recently isolated and diagnosis at the DNA-level became an additional option. Both the dek gene on chromosome 6 and the can gene on chromosome 9 contain one specific intron where breakpoints of t(6;9) patients were found to cluster. The translocation results in a consistent chimeric dek-can mRNA which is generated from the 6p- derivative. Five centers participated in a study to estimate the incidence of t(6;9) in leukemic patients using conventional Southern blot analysis. Patients (n = 320) with either acute undifferentiated leukemia (AUL), AML, MDS or acute lymphoblastic leukemia (ALL) were screened for rearrangement of the genes involved in this translocation. Four of these 320 patients showed rearrangement of the can gene on chromosome 9, of which one also had a rearranged dek gene on chromosome 6. A further 20 patients were studied with karyotypic aberrations in which either the short arm of chromosome 6 or the long arm of chromosome 9 were specifically involved. Both conventional Southern blot analysis and contour-clamped homogeneous electric field (CHEF) analysis failed to show dek-can rearrangement in any of these patients. The results of our study indicate that the incidence of the t(6;9) is a low as reported based on cytogenetic data and that rearrangement of the dek and can genes is mainly restricted to this specific translocation.
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PMID:Dek-can rearrangement in translocation (6;9)(p23;q34). 160 86

Translocation t(6:9)(p23;q34), resulting in a dek-can gene fusion, is a recurrent chromosomal abnormality mainly associated with specific subtypes of acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Patients with this type of chromosomal change are usually young and their prognosis is poor. The role of fusion protein generated from dek-can chimaeric transcript on the leukaemogenesis oft(6;9) AML or MDS is as yet unknown. We have established the first permanent cell line (FKH-1) with t(6;9). derived from the peripheral blood of a patient with t(6:9) AML transformed from Philadelphia chromosome (Ph1)-negative chronic myelocytic leukaemia (CML). The FKH-1 expressed myelomonocytic markers and dek-can chimaeric transcript. In the presence of 10 ng/ml recombinant human granulocyte colony-stimulating factor (G-CSF), the cells doubled every 54 h and showed multilineage myeloid differentiation, resulting in heterogenous morphologies such as macrophages, basophils, eosinophils and neutrophils. Thus, this cell line may be derived from a pluripotent myeloid stem cell and should be a useful tool for biomolecular studies on the pathogenesis of t(6;9) myeloid malignancies which have rarely been investigated because of the lack of continuously proliferating cells.
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PMID:Establishment of a novel human myeloid leukaemia cell line (FKH-1) with t(6;9)(p23;q34) and the expression of dek-can chimaeric transcript. 975 53