title: JAK2V617F mutation in chronic myeloid leukemia predicts early disease progression.
abstract: OBJECTIVE
  To determine the association of JAK2V617F mutation along with BCR-ABL translocation or Philadelphia chromosome in chronic myeloid leukemia with early disease progression to advanced stages (accelerated phase or blast crisis) and poor outcome.
  
  
  METHODS
  Case series.
  
  
  METHODS
  National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, from February 2008 to August 2009.
  
  
  METHODS
  All the newly diagnosed cases of BCR-ABL or Philadelphia positive CML were tested for JAK2V617F mutation by Nested PCR. Demographic data, spleen size, hemoglobin levels, white blood cell and platelet counts were recorded. Independent sample t-test was used for age, haemoglobin level and spleen size. Fisher's exact test was applied to compare disease progression in JAK2V617F mutation positive and negative cases.
  
  
  RESULTS
  Out of 45 newly diagnosed cases of CML, 40 were in chronic phase, 01 in accelerated phase and 04 in blast crisis. JAK2V617F mutation was detected in 12 (26.7%) patients; 09 (22.5%) in chronic phase, none in accelerated phase and 03 (75%) in blast crisis. During a mean follow-up of 8 months, 03 patients in chronic phase transformed in blast crisis and 02 into accelerated phase. Overall 08 out 0f 11 (73%) JAK2V617F positive patients either had advanced disease or showed disease progression. Only 2 of 20 (10%) available patients, negative for the mutation, showed disease progression by transforming into blast crisis (p < 0.001). No statistically significant difference was seen in the age, spleen size, haemoglobin levels, white blood cells and platelets counts in JAK2V617F positive patients.
  
  
  CONCLUSIONS
  JAK2V617F mutation was detected in 26.7% cases of chronic myeloid leukemia. A significant proportion of them showed early disease progression.
authors.affiliation: Department of Haematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi.
authors.forename: Zaen-Al-Abideen
authors.initials: ZA
authors.lastname: Pahore
authors.forename: Tahir S
authors.initials: TS
authors.lastname: Shamsi
authors.forename: Mehwesh
authors.initials: M
authors.lastname: Taj
authors.forename: Tasneem
authors.initials: T
authors.lastname: Farzana
authors.forename: Saqib H
authors.initials: SH
authors.lastname: Ansari
authors.forename: Muhammad
authors.initials: M
authors.lastname: Nadeem
authors.forename: Masood
authors.initials: M
authors.lastname: Ahmad
authors.forename: Arshi
authors.initials: A
authors.lastname: Naz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001752:Blast Crisis; D002648:Child; D016001:Confidence Intervals; D018450:Disease Progression; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010677:Philadelphia Chromosome; D011379:Prognosis; D018570:Risk Assessment; D018709:Statistics, Nonparametric; D013997:Time Factors; D055815:Young Adult
chemical_list: D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2