title: Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocythemia and B-chronic lymphocytic leukemia and in two relatives with lymphoproliferative disorders.
abstract: BACKGROUND
  Myeloproliferative neoplasms likely involve both myeloid and lymphoid lineages. Nevertheless, the coincidence of chronic myeloproliferative and lymphoproliferative diseases in the same patient is a rare phenomenon.
  
  
  METHODS
  We report a case of a patient having essential thrombocythemia (ET) and B-chronic lymphocytic leukemia (B-CLL). In this patient and in 2 relatives with lymphoproliferative disorders, we searched for JAK2(V617F) mutation in lymphocytes.
  
  
  RESULTS
  In the patient with ET and B-CLL, we identified homozygous JAK2(V617F) mutation in the granulocytic compartment. Both relatives were heterozygous for JAK2(V617F) mutation, whereas no mutation signal could be detected in the lymphoid compartment of all 3 patients.
  
  
  CONCLUSIONS
  Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation in B- and T-lymphocyte populations.Presence of JAK2(V617F) mutation in subjects without myeloproliferative diseases could indicate an increased risk of a future myeloproliferative neoplasm development.
authors.affiliation: Division of Hematology, University of Messina, Policlinico G. Martino, Messina, Italy. cmusolino@unime.it
authors.forename: Caterina
authors.initials: C
authors.lastname: Musolino
authors.forename: Alessandro
authors.initials: A
authors.lastname: Allegra
authors.forename: Giuseppa
authors.initials: G
authors.lastname: Penna
authors.forename: Raffaella
authors.initials: R
authors.lastname: Centorrino
authors.forename: Maria
authors.initials: M
authors.lastname: Cuzzola
authors.forename: Arianna
authors.initials: A
authors.lastname: D'Angelo
authors.forename: Pasquale
authors.initials: P
authors.lastname: Iacopino
authors.forename: Andrea
authors.initials: A
authors.lastname: Alonci
mesh_terms: D000368:Aged; D001402:B-Lymphocytes / Q000201:enzymology; D005260:Female; D006098:Granulocytes / Q000201:enzymology; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000150:complications* / Q000235:genetics*; D008232:Lymphoproliferative Disorders / Q000235:genetics; D008297:Male; D008875:Middle Aged; D013601:T-Lymphocytes / Q000201:enzymology; D013920:Thrombocythemia, Essential / Q000150:complications* / Q000235:genetics*
chemical_list: D053614:Janus Kinase 2