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Портал Begell Электронная Бибилиотека e-Книги Журналы Справочники и Сборники статей Коллекции
Critical Reviews™ in Eukaryotic Gene Expression
Импакт фактор: 2.156 5-летний Импакт фактор: 2.255 SJR: 0.649 SNIP: 0.599 CiteScore™: 3

ISSN Печать: 1045-4403
ISSN Онлайн: 2162-6502

Выпуски:
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Critical Reviews™ in Eukaryotic Gene Expression

DOI: 10.1615/CritRevEukarGeneExpr.v20.i1.50
pages 61-76

Mutational Status of Myeloproliferative Neoplasms

Elisa Rumi
Department of Oncology and Hematology, Division of Hematology, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy 27100
Chiara Elena
Department of Oncology and Hematology, Division of Hematology, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy 27100
Francesco Passamonti
Department of Hematology Oncology, University of Pavia Medical School and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy 27100

Краткое описание

Philadelphia negative myeloproliferative neoplasms include essential thrombocythemia, polycythemia vera, and primary myelofibrosis. Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%−60% of essential thrombocythemia, and 50%−60% of primary myelofibrosis). How a unique point mutation can cause three different phenotypes remains to be clarified. The oncogenic potential of this mutation has been documented by mouse models, and different clinical studies have demonstrated an effect of mutant allele burden on phenotype. Mutant allele burden, in fact, directly correlates with hemoglobin value, leukocyte count, and, inversely, with platelet count. The molecular basis of JAK2 (V617F)-negative myeloproliferative neoplasms remains largely unexplained. Additional mutations in MPL, TET2, and CBL genes have been found in a small proportion of these patients. Implications of these mutations in the understanding of the pathogenesis of myeloproliferative neoplasms and in the clinical phenotype are discussed in this review.

Ключевые слова: polycythemia, thrombocythemia, myelofibrosis, JAK2, MPL, CBL, TET2

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