title: Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.
abstract: Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2+ and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2- group (23/45 [51%] vs 14/52 [27%]). Chromosome 9, chromosome 7, and 20q- were recurrent abnormalities in the JAK2+ group, whereas 13q- and trisomy 21 were common in the JAK2- group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P < .05), whereas no cases with 20q- underwent blastic transformation. Our results suggest that incorporation of JAK2 mutation testing and karyotyping allows for monitoring of disease progression with prognostic and therapeutic implications.
authors.affiliation: Department of Pathology, Oregon Health & Science University, Portland, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Dunlap
authors.forename: Katalin
authors.initials: K
authors.lastname: Kelemen
authors.forename: Nicky
authors.initials: N
authors.lastname: Leeborg
authors.forename: Rita
authors.initials: R
authors.lastname: Braziel
authors.forename: Susan
authors.initials: S
authors.lastname: Olson
authors.forename: Richard
authors.initials: R
authors.lastname: Press
authors.forename: James
authors.initials: J
authors.lastname: Huang
authors.forename: Ken
authors.initials: K
authors.lastname: Gatter
authors.forename: Marc
authors.initials: M
authors.lastname: Loriaux
authors.forename: Guang
authors.initials: G
authors.lastname: Fan
mesh_terms: D002471:Cell Transformation, Neoplastic; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007621:Karyotyping; D009154:Mutation; D054437:Myelodysplastic-Myeloproliferative Diseases / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology
chemical_list: D053614:Janus Kinase 2