Distal Enhancer Elements in ASXL1-Mutant Chronic Myelomonocytic Leukemia
نویسندگان
چکیده
منابع مشابه
Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia
Mutations involving epigenetic regulators (TET2~60% and ASXL1~40%) and splicing components (SRSF2~50%) are frequent in chronic myelomonocytic leukemia (CMML). On a 27-gene targeted capture panel performed on 175 CMML patients (66% males, median age 70 years), common mutations included: TET2 46%, ASXL1 47%, SRSF2 45% and SETBP1 19%. A total of 172 (98%) patients had at least one mutation, 21 (12...
متن کاملImpact of TET2, SRSF2, ASXL1 and SETBP1 mutations on survival of patients with chronic myelomonocytic leukemia
BACKGROUND Chronic myelomonocytic leukemia (CMML) is a myeloid neoplasm classified in the myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) category. Molecular abnormalities are reported in about 90 % of patients with CMML. ASXL1 and SETBP1 mutations, but not TET2 or SFRS2 mutations are reported to be associated with prognosis. METHODS We studied frequency of TET2, SRSF2, ASXL1 a...
متن کاملPrognosis of chronic myelomonocytic leukemia.
BACKGROUND Cytopenia caused by ineffective hematopoiesis and monocyte overproduction coexist in CMML, providing grounds for discussion to supporters of a dysplastic versus a proliferative identity for CMML. Follow-up information from a large series of patients may contribute to clarifying the position of this infrequent disease. METHODS We analyzed data from 77 patients followed in five insti...
متن کاملASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26
Thrombocytopenia 2 (THC2), a non-syndromic, autosomal dominant thrombocytopenia, is caused by mutations in the ANKRD26 gene, located on chromosome 10p12. Thus far, 12 heterozygous single nucleotide substitutions in the 5′-untranslated region of the ANKRD26 gene have been described in 21 families. Affected patients usually present with moderate thrombocytopenia with normal platelet size and norm...
متن کاملCytogenetic risk stratification in chronic myelomonocytic leukemia.
BACKGROUND The prognostic value of cytogenetic findings in chronic myelomonocytic leukemia is unclear. Our purpose was to evaluate the independent prognostic impact of cytogenetic abnormalities in a large series of patients with chronic myelomonocytic leukemia included in the database of the Spanish Registry of Myelodysplastic Syndromes. DESIGN AND METHODS We studied 414 patients with chronic...
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ژورنال
عنوان ژورنال: Blood
سال: 2019
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2019-124917