title: JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse.
abstract: The risk profile and prognosis of patients with myelofibrosis is well described by the Dynamic International Prognostic Scoring System risk categorization. Allogeneic stem cell transplantation is considered for intermediate-2/high risk disease. However, indicators of prognosis after transplantation are still lacking. Seventy simultaneously collected pairs of trephine and blood samples were quantified for JAK2 p.V617F allele burden to compare test sensitivity. The course of 30 patients with JAK2 p.V617F-positive myeloproliferative neoplasia was correlated with allele burden after transplantation. Monitoring can be performed on full blood samples as well as trephine biopsies, provided that techniques with ample sensitivity (0.01% to 0.001%) are available. Measurement of allele burden on day 28 after transplantation discriminates two prognostic groups: patients with a JAK2 p.V617F allele burden >1% have a significantly higher risk of relapse of JAK2 p.V617F positive neoplasia (P=0.04) and a poorer overall survival (P<0.01). In conclusion, measurement of JAK2 p.V617F allele burden early after transplantation is an important predictive parameter in monitoring patients following this treatment. As this might provide an important tool in early management of imminent early relapse it will be important to define consensus guidelines for optimal monitoring.
authors.affiliation: Department of Hematology/ Oncology and Hemostaseology, University Hospital of Leipzig, and 2Institute of Pathology, University Hospital of Leipzig, Leipzig, Germany.
authors.forename: Thoralf
authors.initials: T
authors.lastname: Lange
authors.forename: Anja
authors.initials: A
authors.lastname: Edelmann
authors.forename: Udo
authors.initials: U
authors.lastname: Siebolts
authors.forename: Rainer
authors.initials: R
authors.lastname: Krahl
authors.forename: Claudia
authors.initials: C
authors.lastname: Nehring
authors.forename: Nadja
authors.initials: N
authors.lastname: Jäkel
authors.forename: Michael
authors.initials: M
authors.lastname: Cross
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Maier
authors.forename: Dietger
authors.initials: D
authors.lastname: Niederwieser
authors.forename: Claudia
authors.initials: C
authors.lastname: Wickenhauser
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D011379:Prognosis; D012008:Recurrence; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D053614:Janus Kinase 2