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Erdheim-Chester disease (ECD) is a clone hematosis disease characterized by the accumulation of foam tissue cells in the organ, especially frequent injuries after the peritometrium, and brafV600E high-frequency mutations.
although ECD is generally not considered to have significant exovascular blood (PB) or bone marrow (BM) diseases, Aubart et al. recently found that ECD patients have a high frequency of myelin malignancies.
the findings and the fact that cloned hemagtic blood was common before the development of malignant bone marrow tumors, the researchers conducted systematic clinical and molecular analysis of BM in 120 ECD patients.
, 42.5% (51/120) of ECD patients had cloned hematosis, and 15.8% (19/120) had significant hematosomas (almost all myeloma).
most common mutation genes in gene mutation frequency BM are TAT2, SXL1, DNMT3A, and NRAS.
ECD patients with cloned hemagnetic function were older than those without cloned hemagnetic function, and were more likely to suffer after peritina and carry BRAFV600E mutations.
the presence of TET2 mutations is associated with BRAFV600E mutations in tissue ECD lesions, ECD patients with TET2 mutations are more likely to experience vascular strain than those with TET2 wild ECD.
clone hematosis mutations in ECD were detected in CD34-CD38-bone marrow ancestral cells and exo-blood monocytes, but cloned hematocyte mutations were less common in exo-blood B and T lymphocytes.
, the study found mutations in high-frequency genes other than BRAFV600E in cloned blood in ECD patients, highlighting the high risk of developing myeloma in ECD patients.
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