2017
DOI: 10.1016/j.mayocp.2017.06.002
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Genetic Risk Assessment in Myeloproliferative Neoplasms

Abstract: The World Health Organization classification system recognizes 4 variants of JAK2 mutation-enriched myeloproliferative neoplasms (for expansion of gene symbols, use search tool at www.genenames.org): essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF), and prefibrotic PMF. All 4 disorders are characterized by stem cell-derived clonal myeloproliferation with mutually exclusive driver mutations, including JAK2, CALR, and MPL. The median survival is approximately 20 years for ET, 1… Show more

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Cited by 56 publications
(46 citation statements)
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“…Advances in sequencing technology have improved our understanding of the contribution of non-driver mutations as risk factors for overall survival and fibrotic or leukemic transformation. Moreover, the inclusion of somatic mutations in the risk classification of MPN has contributed to the development of more accurate predictive tools [5], such as the mutation-enhanced MIPSS70+ prognostic score for PMF [6] and the online calculator of individualized MPN patient outcomes [7].…”
Section: Introductionmentioning
confidence: 99%
“…Advances in sequencing technology have improved our understanding of the contribution of non-driver mutations as risk factors for overall survival and fibrotic or leukemic transformation. Moreover, the inclusion of somatic mutations in the risk classification of MPN has contributed to the development of more accurate predictive tools [5], such as the mutation-enhanced MIPSS70+ prognostic score for PMF [6] and the online calculator of individualized MPN patient outcomes [7].…”
Section: Introductionmentioning
confidence: 99%
“…Myelofibrosis, primary or secondary, is a life-threatening condition characterized by progressive deterioration of the bone marrow, enhanced circulation of hematopoietic progenitor cells and development of extramedullary hematopoiesis. Ten to 20% of MF patients progress to acute myeloid leukemia (AML) 10,11 . Constitutive activation of JAK2 signaling through somatic mutations affecting JAK2, MPL, or CALR is a hallmark of MPN pathogenesis and represents a therapeutic target [12][13][14][15] .…”
mentioning
confidence: 99%
“…Mutations in CALR, the gene which encodes calreticulin, are highly recurrent in essential thrombocytosis (ET) and primary myelofibrosis (PMF), being found in the majority of cases lacking the JAK2 V617F point mutation. [1][2][3][4] More than 50 different CALR mutations have been described to date, with the two most common being a 52 base pair deletion (type 1 mutation) and a 5 base pair insertion (type 2 mutation). Additional mutations include variably sized deletions or insertions, which have been divided into type 1-like, type 2-like, or other mutations based on the precise mutated amino acid sequence.…”
Section: Comparison Of Real-time Pcr Vs Pcr With Fragment Length Analmentioning
confidence: 99%