title: Discrepancy in diagnosis of primary myelofibrosis between referral and tertiary care centers.
abstract: Primary myelofibrosis (PMF) is myeloproliferative neoplasm whose diagnosis is based on a combination of clinical and pathology criteria. We evaluated 560 consecutive patients who were diagnosed with PMF upon a referral to our center and evaluated the frequency of and reasons for diagnostic discordance. Discordance in the diagnosis was found in 70 (12.5%) patients. Discordant cases had a significantly lower grade of bone marrow fibrosis (grade 0-1), more likely to be JAK2V617F-mutation negative, and have no peripheral blood blasts, possibly explaining the difficulty in making a proper diagnosis and underscoring the need for a complete evaluation at a tertiary center.
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Arana Yi
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Ghayathri
authors.initials: G
authors.lastname: Jeyakumar
authors.affiliation: Department of Hematology, Hospital Universitario Donostia, San Sebastian, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Medina
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Jorge
authors.initials: J
authors.lastname: Cortes
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Sherry
authors.initials: S
authors.lastname: Pierce
authors.affiliation: Hematopathology Department, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Bueso-Ramos
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Hagop
authors.initials: H
authors.lastname: Kantarjian
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address: sverstov@mdanderson.org.
authors.forename: Srdan
authors.initials: S
authors.lastname: Verstovsek
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D001856:Bone Marrow Examination; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055728:Primary Myelofibrosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D012307:Risk Factors; D012680:Sensitivity and Specificity; D062606:Tertiary Care Centers / Q000706:statistics & numerical data*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Diagnostic discrepancy; JAKV617F mutation; Primary myelofibrosis