title: Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms.
abstract: Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). One of the criteria in the 2008 World Health Organization Classification divides MPN into different categories based on the presence of an underlying genetic abnormality, however the WHO does not currently address the classification of myeloproliferative neoplasms that have more than one genetic abnormality. The coexistence of a JAK2(V617F) mutation and BCR-ABL1 is rare, and to our knowledge, less than 25 cases have been reported in the literature. Our case series examines the clinical, histopathologic, and genetic features of 3 patients with myeloproliferative neoplasms characterized by concomitant BCR-ABL1 and JAK2(V617F). The implications for diagnosis and treatment of patients with concomitant BCR-ABL1 and JAK2(V617F) are discussed as well as how the BCR-ABL1 and JAK2(V617F)-positive clones may be related to one another.
authors: Department of Pathology, University of Michigan, Ann Arbor, Michigan 48109-2200, USA.
authors: Jennifer M
authors: JM
authors: Hummel
authors: M Carmen Frias
authors: MC
authors: Kletecka
authors: Jennifer K
authors: JK
authors: Sanks
authors: Mihaela D
authors: MD
authors: Chiselite
authors: Diane
authors: D
authors: Roulston
authors: Lauren B
authors: LB
authors: Smith
authors: David R
authors: DR
authors: Czuchlewski
authors: Kojo S J
authors: KS
authors: Elenitoba-Johnson
authors: Megan S
authors: MS
authors: Lim
mesh_terms: D000368:Aged; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C406060:abl-bcr fusion protein, human; D016044:Fusion Proteins, bcr-abl; C507924:JAK2 protein, human; D053614:Janus Kinase 2