title: A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia.
abstract: We have identified a novel 7.7 Mb del(8)(q23.2q24.11) in a patient progressing to acute myeloid leukemia (AML) following a 12-year stable phase of chronic myelomonocytic leukemia (CMML). A surprisingly high JAK2+ allelic burden of 92% at the time of AML led us to delineate the molecular aberrations relevant for leukemogenesis. While a frameshift mutation in the TET2 gene was stably present throughout the course of disease the JAK2 mutation was acquired after initial diagnosis of CMML. At progression aCGH revealed del(8q)(q23.2q24.11) encompassing various cancer relevant genes of which RAD21 and CSMD3 are of particular interest.
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Marie
authors.initials: M
authors.lastname: Toft-Petersen
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Eigil
authors.initials: E
authors.lastname: Kjeldsen
authors.affiliation: Department of Hematology, Aarhus University Hospital, Denmark.
authors.forename: Line
authors.initials: L
authors.lastname: Nederby
authors.affiliation: Department of Hematology, 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: Anne Stidsholt
authors.initials: AS
authors.lastname: Roug
keywords: CMML; JAK2; TET2; Transformation; del(8q)