title: Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates.
abstract: The prognostic significance of cytogenetic findings at diagnosis in polycythemia vera (PV) was investigated in a retrospective series of 137 patients. Cytogenetics were normal in 117 patients (85%) and displayed a -Y abnormality in five patients (7% of male patients), and other chromosomal abnormalities in 15 patients (11%). The most frequent cytogenetic anomalies were trisomy 8 (n = 4), trisomy 9 (n = 2), deletion 20q (n = 2) and chromosomal 1 abnormalities (n = 2). Parameters that were significantly associated with abnormal cytogenetics included age > or = 60 yr (P = 0.02), but not JAK2V617F allele burden, thrombosis, hemorrhage, leukemic/fibrotic transformation, or survival. We conclude that cytogenetic anomalies occur infrequently at PV diagnosis and do not confer an adverse outcome.
authors: Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
authors: Naseema
authors: N
authors: Gangat
authors: Jacob
authors: J
authors: Strand
authors: Terra L
authors: TL
authors: Lasho
authors: Christy M
authors: CM
authors: Finke
authors: Ryan A
authors: RA
authors: Knudson
authors: Animesh
authors: A
authors: Pardanani
authors: Chin-Yang
authors: CY
authors: Li
authors: Rhett P
authors: RP
authors: Ketterling
authors: Ayalew
authors: A
authors: Tefferi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D001854:Bone Marrow Cells / Q000201:enzymology / Q000473:pathology; D002869:Chromosome Aberrations; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010649:Phenylalanine / Q000235:genetics; D011087:Polycythemia Vera / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D011379:Prognosis; D012189:Retrospective Studies; D014633:Valine / Q000235:genetics
chemical_list: D010649:Phenylalanine; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D014633:Valine