Molecular genetic evaluation of myeloproliferative neoplasms
نویسندگان
چکیده
منابع مشابه
evaluation of common genetic disorders in myeloproliferative neoplasms
introduction: the myeloproliferative neoplasms (mpns) are a heterogeneous group of diseases characterized by excessive production of blood cells by hematopoietic precursors. typically, they include polycythemia vera (pv), essential thrombocythemia (et), idiopathic myelofibrosis(imf), and chronic myeloid leukemia (cml). philadelphia chromosome is the final diagnostic test for cml. recently, jak...
متن کاملMolecular diagnostics of myeloproliferative neoplasms.
Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. These discoveries have been rapidly incorporated into evolving molecular diagnostic algo...
متن کاملGenetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin (CALR), and myeloproliferative leukemia virus (MPL), abnormally activate the cytokine receptor/JAK2 pathway and their downstream effectors, more particularly the STATs. The most frequent mutation, JAK2V617F, activates the 3 ...
متن کاملGenetic–pathologic characterization of myeloproliferative neoplasms
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages. The current study demonstrates that three driver mutations were detected in 82.6% of 407 MPNs with a mutation distribution of JAK2 in 275 (67.6%), CALR in 55 (13.5%) and MPL in 6 (1.5%). The mutations were mutually exclusive in principle except in ...
متن کاملMolecular biology of Philadelphia-negative myeloproliferative neoplasms
Myeloproliferative neoplasms are clonal diseases of hematopoietic stem cells characterized by myeloid hyperplasia and increased risk of developing acute myeloid leukemia. Myeloproliferative neoplasms are caused, as any other malignancy, by genetic defects that culminate in the neoplastic phenotype. In the past six years, since the identification of JAK2V617F, we have experienced a substantial i...
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ژورنال
عنوان ژورنال: International Journal of Laboratory Hematology
سال: 2015
ISSN: 1751-5521
DOI: 10.1111/ijlh.12353