2009.05.29 – JAK2V617F-Positive Latent Essential Thrombocythemia and Splanchnic Vein Thrombosis


Acta Haematologica

Vol. 121, No. 4, 2009

Free Abstract Article (Fulltext) Article (PDF 119 KB)

Case Report

JAK2V617F-Positive Latent Essential Thrombocythemia and Splanchnic Vein Thrombosis: The Role of Bone Marrow Biopsy for the Diagnosis of Myeloproliferative Disease
Alessandro Allegra, Andrea Alonci, Giuseppa Penna, Arianna D’Angelo, Patricia Rizzotti, Angela Granata, Caterina Musolino

Division of Haematology, University of Messina, Messina, Italy

Address of Corresponding Author

Acta Haematol 2009;121:218-220 (DOI: 10.1159/000221962)

Key Words

  • Essential thrombocythemia
  • JAK2 mutation
  • Portal vein thrombosis


Background: Splanchnic vein thrombosis (SVT) is a severe complication of essential thrombocythemia (ET). No clear explanation has been given for the occurrence of thrombosis in this unusual site in patients with ET, but the existence of a specific association between unexplained SVT and the JAK2 mutation has been reported. Methods and Results: The present study describes SVT (portal and splenic vein thrombosis) in a young woman as the first presenting symptom of latent ET. Extensive screening for thrombophilia was negative. Our patient in fact did not fulfill the WHO diagnostic criteria for myeloproliferative disease (MPD), while she had splenomegaly and developed features suggestive of latent ET during follow-up. Conclusions: In these patients with SVT, the detection of JAK2V617F mutation is diagnostic for masked MPD as could be documented by bone marrow histopathology. The presence of JAK2V617F mutation should be considered per se a prothrombotic state for cerebral, coronary and peripheral microvascular disturbances and for SVT but not for deep vein thrombosis. Anticoagulation is the treatment of choice for all SVT and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2V617Fmutation.

Copyright © 2009 S. Karger AG, Basel

Author Contacts

Prof. Caterina Musolino
Division of Haematology, University of Messina
Via Colapesce 20
IT-98100 Messina (Italy)
Tel. +39 090 221 2364, Fax +39 090 293 5162, E-Mail cmusolino@unime.it

Article Information

Received: February 9, 2008
Accepted after revision: March 9, 2009
Published online: May 29, 2009
Number of Print Pages : 3
Number of Figures : 0, Number of Tables : 0, Number of References : 23