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  • Classification
  • Another classification schema directed toward MDS in childhood, mainly adapted by the European community, included MDS (refractory cytopenia, RAEB and RAEBT), JMML, and Down syndrome-specific diseases. (medscape.com)
  • Gene
  • It should be also kept in mind, that trisomy 13 is associated with overexpression of FLT3 gene located at the extra chromosome. (cttjournal.com)
  • Identification of RPS14 as 5q- syndrome gene by RNA interference screen. (springer.com)
  • Liu TX, Becker MW, Jelinek J et al (2007) Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. (springer.com)
  • Ebert BL, Pretz J, Bosco J et al (2008) Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. (springer.com)
  • The gene is flanked by the genes for granulocyte-macrophage colony-stimulating factor and Colony stimulating factor 1 receptor (also termed macrophage-colony stimulating factor receptor), all three of which may be lost together by a single deletional mutation thereby causing development of the 5q-syndrome. (wikipedia.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype" (PDF). (wikipedia.org)
  • The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is 12p13.2. (wikipedia.org)
  • A classic example of such a disease is chronic myelogenous leukemia, a neoplasm commonly caused by a mutation that creates the BCR-ABL1 fusion gene (see Philadelphia chromosome). (wikipedia.org)
  • This interstial (i.e. on the same chromosome) fusion creates a FIP1L1-PDGFRA fusion gene while usually losing intervening genetic material, typically including either the CHIC2 or LNX gene. (wikipedia.org)
  • Leukemia
  • Comparison of spectral karyotyping and conventional cytogenetics in 39 patients with acute myeloid leukemia and myelodysplastic syndrome. (springer.com)
  • Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis presenting with peripheral cytopenias in combination with a hyperplastic bone marrow and an increased risk of evolution to acute myeloid leukemia. (springer.com)
  • This syndrome is a unique type of myelodysplastic syndrome characterized by a prolonged disease course, a low rate of transformation to an aggressive form of leukemia, and an anemia which in many patients is profound, refractory to traditional therapies (e.g. iron supplements, Erythropoietin), and requiring maintenance red blood cell transfusions. (wikipedia.org)
  • This syndrome affects bone marrow cells causing treatment-resistant anemia and myelodysplastic syndromes that may lead to acute myelogenous leukemia. (wikipedia.org)
  • This Philadelphia chromosome positive form of chronic myelogenous leukemia used to be treated with chemotherapy but nonetheless was regarded as becoming lethal within 18-60 months of diagnosis. (wikipedia.org)
  • Absent these causes, patients were diagnosed in the World Health Organization's classification as having either 1) Chronic eosinophilic leukemia, not otherwise specified, (CEL-NOS) if blood or bone marrow blast cells exceeded 2% or 5% of total nucleated cells, respectively, and other criteria were met or 2) idiopathic hypereosinophilic syndrome (HES) if there was evidence of eosinophil-induced tissue damage but no criteria indicating chronic eosinophilic leukemia. (wikipedia.org)
  • MDSs
  • Myelodysplastic syndromes (MDSs) are a collection of clonal stem cell hematopoietic disorders that are characterized by ineffective hematopoiesis, multilineage dysplasia, peripheral cytopenias, and susceptibility to leukemic transformation. (springer.com)
  • disorders
  • Historically, patients suffering the cited eosinophil-related syndromes were evaluated for causes of their eosinophilia such as those due to allergic disease, parasite or fungal infection, autoimmune disorders, and various well-known hematological malignancies (e.g. (wikipedia.org)
  • Philadelphia
  • Philadelphia chromosome positive chronic myelogenous eukemia is now successfully treated with maintenance tyrosine kinase inhibiting drugs to achieve its long-term suppression. (wikipedia.org)