[Relationship between clinical features and somatic gene mutations in myelodysplastic syndrome].
[Rinsho ketsueki] The Japanese journal of clinical hematology(2018)
摘要
Recent progress in sequencing studies has suggested that somatic mutations can be used in clinical sequencing for predicting prognosis and selecting treatment options in myelodysplastic syndrome (MDS). A 48-year-old man was diagnosed with refractory cytopenia with multilineage dysplasia that is classified as a subtype of high-risk MDS based on both revised International Prognostic Scoring System and refined WHO classification based Prognostic Scoring System. He received a bone marrow transplant from an HLA-matched sibling donor at X+87 months because of disease progression. Targeted sequencing of 69 genes in bone marrow cells at X+82 months revealed mutations in BCOR and U2AF1 genes. Variant allele frequencies of these mutations were almost unchanged in the bone marrow examined from X+9 months to X+80 months, but they subsequently decreased. Neither of these mutations was detected in the bone marrow at X+88 months, a month after transplantation. The mutations often found in secondary leukemia or high-risk MDS were not detected in our patient. These serial genetic conditions may correspond to the relatively stable disease course over a long time.
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关键词
BCOR,Myelodysplastic syndrome,U2AF1
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