MYELOID NEOPLASIA Brief report JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone
نویسندگان
چکیده
1Cambridge Institute for Medical Research and Department of Haematology, University of Cambridge, Cambridge, United Kingdom; 2Department of Haematology, Addenbrooke’s Hospital, Cambridge, United Kingdom; 3Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom; 4Haematology Department, Hospital del Mar-IMIM, Barcelona, Spain; 5Department of Medical and Surgical Care, Section of Hematology, University of Florence and Istituto Toscano Tumori, Florence, Italy; 6Department of Haematology, Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom; 7Department of Haematology, Royal Hallamshire Hospital, Sheffield, United Kingdom; 8University Hospital of Ulm, Department of Internal Medicine III, Ulm, Germany; 9Etablissement Français du Sang Aquitaine Limousin, Bordeaux, France; 10Laboratoire d’Hematologie, Centre Hospitalier Universitaire de Bordeaux and Laboratorie Hematopoiese Leucemique et Cibles Thérapeutiques, Inserm U 1035, Université Bordeaux Segalen, Bordeaux, France; 11Department of Haematology, Belfast City Hospital, Belfast, United Kingdom; 12Department of Haematology, Hôpital Haut-Lévèque, Etablissement Français du Sang Aquitaine-Limousin, Bordeaux, France; and 13Wellcome Trust Sanger Institute, Cambridge, United Kingdom
منابع مشابه
JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.
Subclones homozygous for JAK2V617F are more common in polycythemia vera (PV) than essential thrombocythemia (ET), but their prevalence and significance remain unclear. The JAK2 mutation status of 6495 BFU-E, grown in low erythropoietin conditions, was determined in 77 patients with PV or ET. Homozygous-mutant colonies were common in patients with JAK2V617F-positive PV and were surprisingly prev...
متن کاملJAK2V617F-homozygosity drives a phenotypic switch between myeloproliferative neoplasms in a murine model, but is insufficient to sustain clonal expansion
Genomic regions of acquired uniparental disomy (UPD) are common in malignancy and frequently harbor mutated oncogenes. Homozygosity for such gain-of-function mutations is thought to modulate tumor phenotype, but direct evidence has been elusive. Polycythemia vera (PV) and essential thrombocythemia (ET), two subtypes of myeloproliferative neoplasms, are associated with an identical acquired JAK2...
متن کاملEvaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR
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 کاملX-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.
The JAK2V617F mutation is present in most patients with polycythemia vera (PV) and in some patients with essential thrombocythemia (ET) and myeloid metaplasia/myelofibrosis (MMM). We sought to investigate the relationship between granulocyte clonality and JAK2V617F allelic ratio. A total of 168 of 190 female patients were informative for a clonality assay at the HUMARA locus; 80% of MMM, 75% of...
متن کاملارزیابی میزان جهش JAK2V617F در بیماران میلو پرولیفراتیو مزمن به روش AS-RT-PCR
Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...
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