MYELOID NEOPLASIA Two routes to leukemic transformation after a JAK2 mutation–positive myeloproliferative neoplasm
نویسندگان
چکیده
1Department of Haematology, Cambridge Institute for Medical Research, Cambridge, United Kingdom; 2Institut Gustave Roussy, Inserm UMR790, Villejuif, France; 3Department of Haematology, Russell’s Hall Hospital, Dudley, United Kingdom; 4Department of Haematology, Dubrava University Hospital, Zagreb, Croatia; 5Centre for Cancer Research and Cell Biology, Queen’s University, Belfast, United Kingdom; 6Department of Haematology, St Thomas’ Hospital, London, United Kingdom; and 7Department of Haematology, University of Florence, Florence, Italy
منابع مشابه
Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm.
Acute myeloid leukemia (AML) may follow a JAK2-positive myeloproliferative neoplasm (MPN), although the mechanisms of disease evolution, often involving loss of mutant JAK2, remain obscure. We studied 16 patients with JAK2-mutant (7 of 16) or JAK2 wild-type (9 of 16) AML after a JAK2-mutant MPN. Primary myelofibrosis or myelofibrotic transformation preceded all 7 JAK2-mutant but only 1 of 9 JAK...
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Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...
متن کاملLeukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation.
To study the role of the JAK2-V617F mutation in leukemic transformation, we examined 27 patients with myeloproliferative disorders (MPDs) who transformed to acute myeloid leukemia (AML). At MPD diagnosis, JAK2-V617F was detectable in 17 of 27 patients. Surprisingly, only 5 of 17 patients developed JAK2-V617F-positive AML, whereas 9 of 17 patients transformed to JAK2-V617F-negative AML. Microsat...
متن کاملPrevalence of MPL (W515K/L) Mutations in Patients with Negative-JAK2 (V617F) Myeloproliferative Neoplasm in North-East of Iran
Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...
متن کاملSNP Array Karyotyping Allows for the Detection of Uniparental Disomy and Cryptic Chromosomal Abnormalities in MDS/MPD-U and MPD
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). In typical MPD cases (N = 8), which served as a control group, those with a homozyg...
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