MYELOID NEOPLASIA Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
نویسندگان
چکیده
1Wessex Regional Genetics Laboratory, Salisbury, and Human Genetics Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 2Haematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens, Greece; 3Inflammation, Infection and Repair Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 4III Medizinische Universitätsklinik, Fakultät für Klinische Medizin Mannheim der Universität Heidelberg, Mannheim, Germany; 5Department of Haematology, Royal Bournemouth Hospital, Bournemouth, United Kingdom; 6Northern Institute for Cancer Research, Newcastle upon Tyne, United Kingdom; and 7Department of Medicine, Hematology & Oncology, University of Frankfurt, Frankfurt, Germany
منابع مشابه
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
Recent evidence has demonstrated that acquired uniparental disomy (aUPD) is a novel mechanism by which pathogenetic mutations in cancer may be reduced to homozygosity. To help identify novel mutations in myeloproliferative neoplasms (MPNs), we performed a genome-wide single nucleotide polymorphism (SNP) screen to identify aUPD in 58 patients with atypical chronic myeloid leukemia (aCML; n = 30)...
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3. Matsuda K, Shimada A, Yoshida N, et al. Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Blood. 2007;109(12):5477-5480. 4. Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood. 2009;113(24):6182-6192. 5. Mat...
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Two types of acquired loss of heterozygosity are possible in cancer: deletions and copy-neutral uniparental disomy (UPD). Conventionally, copy number losses are identified using metaphase cytogenetics, whereas detection of UPD is accomplished by microsatellite and copy number analysis and as such, is not often used clinically. Recently, introduction of single nucleotide polymorphism (SNP) micro...
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