title: Kinetics of del(7q) driven leukemogenesis in a patient with JAK2 V617F and TET2 mutated chronic myeloproliferative neoplasm.
abstract: Chronic myeloid neoplasms have susceptibility to transform into acute myeloid leukemia due to attainment of additional molecular lesions. We here describe the kinetics of a del(7q) driven leukemogenesis in a patient with multiple TET2 mutations and JAK2 V617F mutated chronic myeloproliferative neoplasm. The del(7q) emerged in the accelerated phase of disease, which was preceded by a lag phase of almost three years with normalized peripheral blood cell counts. Our results reveal that the del(7q), independently of other lesions, acts as a leukemic driver in this patient and that the stable long-lasting normalization of peripheral blood cell values concealed pending transformation.
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Laura Laine
authors.initials: LL
authors.lastname: Herborg
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Line
authors.initials: L
authors.lastname: Nederby
authors.affiliation: Hemodiagnostic Laboratory, Section of Cancer Cytogenetics, Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Eigil
authors.initials: E
authors.lastname: Kjeldsen
authors.affiliation: Department of Hematology L4042 Rigshospitalet, Copenhagen, Denmark.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Grønbæk
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Peter
authors.initials: P
authors.lastname: Hokland
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Maria
authors.initials: M
authors.lastname: Hansen
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Marcus
authors.initials: M
authors.lastname: Celik Hansen
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Anne Stidsholt
authors.initials: AS
authors.lastname: Roug
keywords: Del(7q); Essential thrombocythemia; JAK2; TET2