IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis

Autor:	Domenica Caramazza, Ming Mai, Lisa Pieri, Omar Abdel-Wahab, Christy Finke, Rebecca F. McClure, Jawaharlal M. Patel, Animesh Pardanani, D. G. Gilliland, A Tefferi, Outi Kilpivaara, Ross L. Levine, Terra L. Lasho, Paola Guglielmelli, Martha Wadleigh, Alessandro M. Vannucchi
Rok vydání:	2010
Předmět:	Adult Male Cancer Research medicine.medical_specialty IDH1 Adolescent MPL Biology Polymerase Chain Reaction IDH2 Gastroenterology Cohort Studies Young Adult Polycythemia vera hemic and lymphatic diseases Internal medicine medicine Humans Myelofibrosis Polycythemia Vera Aged Aged 80 and over Thrombopoietin receptor TET2 Essential thrombocythemia Haplotype Hematology Janus Kinase 2 Middle Aged Prognosis medicine.disease Isocitrate Dehydrogenase Isocitrate dehydrogenase JAK2 Oncology Primary Myelofibrosis Mutation Immunology Original Article Female myeloproliferative Blast Crisis Receptors Thrombopoietin Thrombocythemia Essential
Zdroj:	Leukemia
ISSN:	1476-5551 0887-6924
DOI:	10.1038/leu.2010.113
Popis:	In a multi-institutional collaborative project, 1473 patients with myeloproliferative neoplasms (MPN) were screened for isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations: 594 essential thrombocythemia (ET), 421 polycythemia vera (PV), 312 primary myelofibrosis (PMF), 95 post-PV/ET MF and 51 blast-phase MPN. A total of 38 IDH mutations (18 IDH1-R132, 19 IDH2-R140 and 1 IDH2-R172) were detected: 5 (0.8%) ET, 8 (1.9%) PV, 13 (4.2%) PMF, 1 (1%) post-PV/ET MF and 11 (21.6%) blast-phase MPN (P
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846a5c145401cbf425cf3c46de301987 https://doi.org/10.1038/leu.2010.113 Zobrazit plný text záznamu Plný text ve formátu PDF