JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic leukemia

Chin Med J (Engl). 2012 Jun;125(11):2076-9.

Abstract

Coexistence of chronic lymphocytic leukemia (CLL) and essential thrombocythemia (ET) in a patient is extremely rare, with only 10 cases reported thus far in literature. This paper describes a 94-year-old male having atypical B-CLL with CD5⁻ (CD5⁻) phenotype and ET. In this patient, we performed interphase fluorescence in situ hybridization (FISH) analysis which revealed 13q14.3 deletion in 31% of B-lymphocyte nuclei and RB1 deletion in 27% of B-lymphocyte nuclei, but not in neutrophils and T-lymphocytes. Furthermore, we identified JAK2 V617F mutation in the peripheral blood nucleated cells and neutrophils, but not in the B- and T-lymphocyte populations. Therefore, it was concluded that the occurrence of CD5− B-CLL and ET in this patient was pathogenically independent.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • CD5 Antigens / metabolism*
  • Humans
  • In Situ Hybridization
  • Janus Kinase 2 / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / metabolism
  • Male
  • Mutation
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / metabolism

Substances

  • CD5 Antigens
  • Janus Kinase 2