نتایج جستجو برای: سندرم میلودیسپلاستیک mds raeb
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A cohort of MDS patients was examined for mutations affecting 4 splice genes (SF3B1, SRSF2, ZRSR2, and U2AF35) and evaluated in the context of clinical and molecular markers. Splice gene mutations were detected in 95 of 221 patients. These mutations were mutually exclusive and less likely to occur in patients with complex cytogenetics or TP53 mutations. SF3B1(mut) patients presented with lower ...
Recent work has identified heterozygous mutations in DNMT3a in 4.1–22.1% of patients with acute myeloid leukemia (AML). Here we show that 3.3% of patients with high risk myelodysplastic syndrome (MDS) also possess heterozygous mutations in the methyltransferase domain of DNMT3a. Our results suggest that DNMT3a mutations may precede the development of AML. MDS is a heterogenous group of clonal b...
BACKGROUND Matrix metalloproteinase -2 (gelatinase-A, Mr 72,000 type IV collagenase, MMP-2) and -9 (gelatinase-B, Mr 92,000 type IV collagenase, MMP-9) are key molecules that play roles in tumor growth, invasion, tissue remodeling, metastasis and stem-cell regulation by digesting extracellular matrix barriers. MMP-2 and -9 are well known to impact on solid cancer susceptibility, whereas, in hem...
BACKGROUND myelodysplastic syndromes (MDS) are a heterogeneous group of hematopoietic clonal disorders. So, prognostic variables are important to separate patients with a similar biology and clinical outcome. We compared the importance of risk stratification in primary MDS of IPSS and WPSS with the just described revision of IPSS (IPSS-R), and examined if variables obtained by bone marrow immun...
M yelodysplasia (MDS) is a clonal hematopoietic malignancy as stubborn in revealing its pathogenesis as it is in responding to treatment. The disease presents with cytopenia of any or all of the three hematopoietic lineages (red blood cells, platelets, and white blood cells), manifesting clinically as fatigue, bleeding, and infectious disorders. While the disease occurs in only five per 100,000...
We report the disappearance of cytogenetic abnormalities and hematologic recovery after immunosupressive therapy that included antithymocyte globlin (ATG) and cyclosporin A (CsA) in a patient with hypoplastic refractory anemia with excess of blasts (RAEB). A 57-year-old man presented in June 1986 with pancytopenia. Complete blood count (CBC) showed a hemoglobin (Hb) concentration of 10 g/dL, a ...
Myelodysplastic syndromes are a heterogeneous group of disorders characterized by ineffective hematopoiesis accompanied by morphologic dysplasia [1]. The underlying genetic lesions responsible for the pathogenesis of the disease remain largely elusive. In addition, the diagnosis of low-grade dysplastic process such as refractory anemia (RA) poses a challenge to the clinician as well as to the h...
The clinical importance of erythroid predominance in bone marrow of patients with acute myeloid leukemia (AML) is controversial. These cases represent a heterogeneous group of diseases that historically have been classified into different categories. We studied 313 AML patients and specifically compared the clinical, cytogenetic, and molecular features of cases of AML with erythroid predominanc...
To determine the clonal nature of hematopoiesis and to assess lineage involvement in patients with myelodysplastic syndromes (MDS), we used restriction fragment length polymorphisms of the X-linked genes phosphoglycerate kinase (PGK,) and hypoxanthine phosphoribosyltransferase (HPRT) and the X-linked probe M27P. Eleven female MDS patients heterozygousfor at least one of these probes were studie...
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