Background Myeloproliferative disorders (MPD) represent a risk factor for thrombosis in the portal, mesenteric, or hepatic districts. Objective We aimed at assessing whether the JAK2 V617F mutation, an acquired mutation that occurs in MPD patients, is a risk factor for portal and mesenteric venous thrombosis (PMVT) independently of the presence of overt MPD. Patients/Methods In 99 patients presenting with PMVT, medical history was collected. The presence of the JAK2 V617F and VHL 598C>T mutations was determined by polymerase chain reaction followed by restriction enzyme analysis and direct cycle sequence analysis. Results Over a 10-year period of observation, in 99 patients presenting with PMVT the JAK2 V617F mutation was detected, in heterozygous state, in 17 individuals (17.2%; 95%-CI: 10.9-25.9). None of the patients presenting with the JAK2 V617F mutation carried an inherited thrombophilic risk factor. Seven patients with (43.8%; 95%-CI: 19.8-70.1) and 2 without (2.4%; 95%-CI: 0.3-8.4) the JAK2 V617F mutation had a diagnosis of MPD at the occurrence of the venous thrombotic event. After a median follow-up of 41 months (range: 3-114), 3 out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having MF (n=2) or PV (n=1) whereas in 7 patients a MPD was not detected. Two of 83 patients without the JAK2 V617F mutation went on to develop MPD. Conclusions Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PMVT and may be useful to recognize patients who should be carefully observed for the subsequent development of overt MPD.

The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis.

GRANDONE E;MARGAGLIONE, MAURIZIO
2007-01-01

Abstract

Background Myeloproliferative disorders (MPD) represent a risk factor for thrombosis in the portal, mesenteric, or hepatic districts. Objective We aimed at assessing whether the JAK2 V617F mutation, an acquired mutation that occurs in MPD patients, is a risk factor for portal and mesenteric venous thrombosis (PMVT) independently of the presence of overt MPD. Patients/Methods In 99 patients presenting with PMVT, medical history was collected. The presence of the JAK2 V617F and VHL 598C>T mutations was determined by polymerase chain reaction followed by restriction enzyme analysis and direct cycle sequence analysis. Results Over a 10-year period of observation, in 99 patients presenting with PMVT the JAK2 V617F mutation was detected, in heterozygous state, in 17 individuals (17.2%; 95%-CI: 10.9-25.9). None of the patients presenting with the JAK2 V617F mutation carried an inherited thrombophilic risk factor. Seven patients with (43.8%; 95%-CI: 19.8-70.1) and 2 without (2.4%; 95%-CI: 0.3-8.4) the JAK2 V617F mutation had a diagnosis of MPD at the occurrence of the venous thrombotic event. After a median follow-up of 41 months (range: 3-114), 3 out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having MF (n=2) or PV (n=1) whereas in 7 patients a MPD was not detected. Two of 83 patients without the JAK2 V617F mutation went on to develop MPD. Conclusions Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PMVT and may be useful to recognize patients who should be carefully observed for the subsequent development of overt MPD.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11369/3758
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact