title: Acquisition of genomic events leading to lymphoblastic transformation in a rare case of myeloproliferative neoplasm with BCR-JAK2 fusion transcript.
abstract: We report a case of myeloproliferative neoplasm (MPN) with an atypical t(9;22;15)(p24;q11;q21) translocation, leading to a BCR-JAK2 fusion, associated with a trisomy of chromosome 8 in clonal evolution at karyotype. Patient's evolution was marked by an aggressive clinical course with rapid progression to blast phase within the first year after diagnosis. Examination of matched chronic phase and blast crisis samples by SNP-array karyotyping identified secondary acquired cryptic genetic events at the time of lymphoblastic transformation, including biallelic IKZF1 alteration and EBF1 and CDKN2A/B codeletions. This case is the first report describing acquisition of secondary genetic events leading to acute lymphoblastic progression in a rare MPN with BCR-JAK2 fusion.
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France. nicolas.duployez@chru-lille.fr.|INSERM UMR-S 1172, Cancer Research Institute, Lille, France. nicolas.duployez@chru-lille.fr.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Duployez
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France.|INSERM UMR-S 1172, Cancer Research Institute, Lille, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Nibourel
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France.
authors.forename: Benoît
authors.initials: B
authors.lastname: Ducourneau
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Grardel
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France.|INSERM UMR-S 1172, Cancer Research Institute, Lille, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Boyer
authors.affiliation: Department of Hematology, CHU Lille, Claude Huriez Hospital, Lille, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Bories
authors.affiliation: Department of Hematology, CH Arras, Arras, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Darre
authors.affiliation: Department of Hematology, CHU Lille, Claude Huriez Hospital, Lille, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Coiteux
authors.affiliation: INSERM UMR-S 1172, Cancer Research Institute, Lille, France.|Department of Hematology, CHU Lille, Claude Huriez Hospital, Lille, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Berthon
authors.affiliation: CHU Lille, Biology and Pathology Center, Institute of Hematology, Lille, France.|INSERM UMR-S 1172, Cancer Research Institute, Lille, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Preudhomme
authors.affiliation: INSERM UMR-S 1172, Cancer Research Institute, Lille, France.|CHU Lille, Jeanne de Flandre Hospital, Institute of Medical Genetics, Lille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Roche-Lestienne
mesh_terms: D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D002871:Chromosome Banding; D018450:Disease Progression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology*; D015514:Oncogene Proteins, Fusion; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D053614:Janus Kinase 2; D051562:Proto-Oncogene Proteins c-bcr
keywords: BCR-JAK2; IKZF1; SNP-array; acute leukemia; cytogenetics; myeloproliferative neoplasms