MYELOID NEOPLASIA A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera
نویسندگان
چکیده
1Hematology and Medical Oncology Department, Hospital Clínico Universitario, Valencia, Spain; 2Hemotherapy and Hemostasis Department, Hospital Clínic, Barcelona, Spain; 3Hematology Department, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain; 4Hematology Department, Hospital del Mar, Barcelona, Spain; 5Hematology Department, Hospital La Fe, Valencia, Spain; 6Hematology Department, Hospital de Sagunto, Sagunto, Spain; 7Hematology Department, Institut Català d’Oncologia, Hospitalet de Llobregat, Barcelona, Spain; 8Hematology Department, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; and 9Pathology Department, Hospital del Mar, Barcelona, Spain
منابع مشابه
A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera.
Patients with essential thrombocythemia (ET) and polycythemia vera (PV) have an increased incidence of acute myeloid leukemia and new nonhematologic malignancies compared with the general population. However, information on the factors determining the risk for such complications is limited. In the present study, we investigated whether constitutional genetic variations in DNA repair predispose ...
متن کاملارزیابی میزان جهش JAK2V617F در بیماران میلو پرولیفراتیو مزمن به روش AS-RT-PCR
Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...
متن کاملNo association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis.
Philadelphia negative (Ph) classical myeloproliferative neoplasms (MPNs), i.e. polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are clonal disorders of hematopoiesis with high frequency of recurrent somatic gene mutations, like JAK2V617F and MPLW515L, DNA copy variations, and chromosomal aberrations. Consequently, the neoplastic process is thought to be i...
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5. Gangat N, Strand J, Lasho TL, et al. Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates. Eur J Haematol 2008;80:197-200. 6. Diez-Martin JL, Graham DL, Petitt RM, Dewald GW. Chromosome studies in 104 patients with polycythemia vera. Mayo Clin Proc 1991;66:287-99. 7. Rowley JD. Abnormalities of chromosome 1 in myeloproliferative disorders. Ca...
متن کاملAllogeneic hematopoietic stem cell transplantation in patients with polycythemia vera or essential thrombocythemia transformed to myelofibrosis or acute myeloid leukemia: a report from the MPN Subcommittee of the Chronic Malignancies Working Party of the European Group for Blood and Marrow Transplantation.
The clinical course of polycythemia vera and essential thrombocythemia is potentially associated with long-term severe complications, such as evolution to myelofibrosis or acute myeloid leukemia. Allogeneic stem cell transplantation is currently the only potentially curative treatment for advanced polycythemia vera or essential thrombocythemia. We analyzed 250 consecutive patients with an initi...
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