Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation

Leuk Res. 2011 Sep;35(9):1188-92. doi: 10.1016/j.leukres.2011.02.001. Epub 2011 Mar 3.

Abstract

A cohort of 338 patients diagnosed with myeloproliferative neoplasms was investigated by conventional cytogenetics and evaluated for the presence of the JAK2 V617F mutation. A t(1;9)(p10;q10) in addition to two extra der(1;9)(q10;p10) chromosomes was observed in two patients of essential thrombocythemia that transformed to acute myelogenous leukemia or to myelofibrosis. These findings suggest that the presence of extra derivative chromosomes der(1q;9p) in combination with the JAK2 V617F mutation may play a role in the progression of myeloproliferative neoplasms and supports the use of cytogenetics in the follow-up of the disease.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution / genetics
  • Amino Acid Substitution / physiology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 1* / genetics
  • Chromosomes, Human, Pair 9* / genetics
  • Cohort Studies
  • Disease Progression
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics
  • Mutation, Missense / physiology
  • Phenylalanine / genetics
  • Recurrence
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / pathology
  • Translocation, Genetic*
  • Valine / genetics

Substances

  • Phenylalanine
  • JAK2 protein, human
  • Janus Kinase 2
  • Valine