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)

Neoplasia can be associated with a wide range of rheumatologic manifestations. Literature over the last 12 months has reviewed metastasis of solid tumors to the joint and hypertrophic pulmonary osteoarthropathy. Vasculitis has been reported as a paraneoplastic syndrome associated with both hematologic and solid malignancies. Paraproteinemia occurs in association with rheumatoid arthritis and may progress to lymphoproliferative malignancy. A careful review of 23 rheumatoid arthritis patients with a serum paraprotein has attempted to study the predictive value of monoclonal gammopathy in rheumatoid arthritis for the later development of lymphoproliferative malignancy. Rheumatic manifestations, including cutaneous vasculitis and lupuslike syndromes, are seen in up to 10% of patients with myelodysplastic syndromes. Leukemias sometimes present as synovitis, and immunocytologic analysis of joint fluids can help to establish the diagnosis of leukemic arthritis at an early stage. Several other cases reports of arthritis associated either directly or indirectly with neoplasia are presented.
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PMID:Rheumatic manifestations of neoplasia. 154 70

Monoallelic RUNX1 mutations cause familial platelet disorder with predisposition for acute myelogenous leukemia (FPD/AML). Sporadic mono- and biallelic mutations are found at high frequencies in AML M0, in radiation-associated and therapy-related myelodysplastic syndrome and AML, and in isolated cases of AML M2, M5a, M3 relapse, and chronic myelogenous leukemia in blast phase. Mutations in RUNX2 cause the inherited skeletal disorder cleidocranial dysplasia (CCD). Most hematopoietic missense mutations in Runx1 involve DNA-contacting residues in the Runt domain, whereas the majority of CCD mutations in Runx2 are predicted to impair CBFbeta binding or the Runt domain structure. We introduced different classes of missense mutations into Runx1 and characterized their effects on DNA and CBFbeta binding by the Runt domain, and on Runx1 function in vivo. Mutations involving DNA-contacting residues severely inactivate Runx1 function, whereas mutations that affect CBFbeta binding but not DNA binding result in hypomorphic alleles. We conclude that hypomorphic RUNX2 alleles can cause CCD, whereas hematopoietic disease requires more severely inactivating RUNX1 mutations.
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PMID:Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 1729 Feb 19

Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Occurrence of Ollier's disease with myelodysplastic syndrome has never been reported in the literature. The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow characterized by one or more cytopenias despite a relatively hypercellular bone marrow. We hereby report the case of a 14 years boy who presented with painless finger swelling and hepatosplenomegaly. Radiological and bone marrow findings confirmed the diagnosis of Ollier's disease with Refractory Anemia and Excess Blasts (RAEB-1).
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PMID:Ollier's Disease with Myelodysplastic Syndrome. 2645 95