The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases

Kiladjian, Jean‐Jacques; Cervantes, Francisco; Leebeek, F. W. G.; Marzac, Christophe; Cassinat, Bruno; Chevret, Sylvie; Cazals–Hatem, Dominique; Plessier, Aurélie; García-Pagán, Juan Carlos; Murad, Sarwa Darwish; Raffa, S.; Janssen, Harry L.A.; Gardin, Claude; Cereja, Sophie; Tonetti, Carole; Giraudier, Stéphane; Condat, Bertrand; Casadevall, Nicole; Fenaux, Pierre; Valla, Dominique

doi:10.1182/blood-2007-11-125328

Cited by 327 publications

(280 citation statements)

References 45 publications

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“…Two of the patients reported so far, both carrying a R541-E543delinsK mutation in the exon 12, suffered from PVT and HVT, respectively [19]. Screening for JAK2 exon 12 mutations by direct sequencing did not reveal any mutation in 123 JAK2 V617F-negative patients with SVT [16] and in 93 patients with SVT unselected for the presence of the JAK2 V617F mutation [20]. However, direct sequencing could escape detection of low percentages of mutant alleles in granulocytes in respect to allele-specific PCR reactions.…”

Section: Jakking Up Tumor Registry Reporting Of the Myeloproliferativmentioning

confidence: 75%

Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

et al. 2008

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Section: Jakking Up Tumor Registry Reporting Of the Myeloproliferativmentioning

confidence: 75%

Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

et al. 2008

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“…It is now recommended by the WHO as a major diagnostic criterion for the diagnosis of MPD. [19][20][21] PVT is a manifestation of myeloproliferative disease in 22-48% of patients. In the West, latent MPD has been reported in 58% of patients with idiopathic PVT and 51% of these developed overt MPD on follow up.…”

Section: Acute Non-cirrhotic Portal Vein Thrombosis Procoagulant Statementioning

confidence: 99%

Portal Vein Thrombosis

Chawla

Bodh

2015

Journal of Clinical and Experimental Hepatology

151

147

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Portal vein thrombosis is an important cause of portal hypertension. PVT occurs in association with cirrhosis or as a result of malignant invasion by hepatocellular carcinoma or even in the absence of associated liver disease. With the current research into its genesis, majority now have an underlying prothrombotic state detectable. Endothelial activation and stagnant portal blood flow also contribute to formation of the thrombus. Acute non-cirrhotic PVT, chronic PVT (EHPVO), and portal vein thrombosis in cirrhosis are the three main variants of portal vein thrombosis with varying etiological factors and variability in presentation and management. Procoagulant state should be actively investigated. Anticoagulation is the mainstay of therapy for acute non-cirrhotic PVT, with supporting evidence for its use in cirrhotic population as well. Chronic PVT (EHPVO) on the other hand requires the management of portal hypertension as such and with role for anticoagulation in the setting of underlying prothrombotic state, however data is awaited in those with no underlying prothrombotic states. TIPS and liver transplant may be feasible even in the setting of PVT however proper selection of candidates and type of surgery is warranted. Thrombolysis and thrombectomy have some role. TARE is a new modality for management of HCC with portal vein invasion. ( J CLIN EXP HEPATOL 2015;5:22-40)

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“…40 • JAK2V617F also occurs in other myeloid malignancies and is therefore useful as a clonal marker in the evaluation of otherwise unexplained BCR-ABL1-negative granulocytosis or monocytosis. 41 • JAK2V617F, but not JAK2 exon 12 or MPL mutations, 42 has been shown to identify occult MPN in patients with splanchnic vein thrombosis, 43 but the yield of mutation screening in the evaluation of nonsplanchnic thrombosis is very low. 44,45 • JAK2 mutations are present in virtually all patients with PV; therefore their screening is reasonable in the presence of characteristic symptoms of PV such as aquagenic pruritus or unexplained splenomegaly, even if the complete blood count picture is not suggestive of PV.…”

Section: Jak2 and Mpl Mutation Screening In Routine Clinical Practicementioning

confidence: 99%

Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms

Tefferi

Noël

Hanson

2011

The Journal of Molecular Diagnostics

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JAK2V617F is sufficiently prevalent in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) to be useful as a clonal marker. JAK2V617F mutation screening is indicated for the evaluation of erythrocytosis, thrombocytosis, splanchnic vein thrombosis, and otherwise unexplained BCR-ABL1-negative granulocytosis. However, the mutation does not provide additional value in the presence of unequivocal morphologic diagnosis, and its presence does not necessarily distinguish one MPN from another or provide useful prognostic information. In general, quantitative cell-based JAK2V617F mutation assays are preferred because the additional information obtained on mutant allele burden enhances diagnostic certainty and facilitates monitoring of response to treatment. JAK2 exon 12 mutation screening is indicated only in the presence of JAK2V617F-negative erythrocytosis that is associated with a subnormal serum erythropoietin level. MPL mutations are neither frequent nor specific enough to warrant their routine use for MPN diagnosis, but they may be useful in resolving specific diagnostic problems. The practice of en bloc screening for JAK2V617F, JAK2 exon 12, and MPL mutations is scientifically irrational and economically irresponsible. Morphology is the cornerstone of current diagnosis and classification in myeloid malignancies. 1 Cytochemical, immunophenotypic, cytogenetic, and molecular data enhance diagnostic accuracy and form the basis for the World Health Organization classification of myeloid malignancies into five main categories 2 : acute myeloid leukemia, myelodysplastic syndromes (MDSs), myeloproliferative neoplasms (MPNs), MDS/MPN overlap, and platelet-derived growth factor receptor gene or fibroblast growth factor receptor 1 gene rearranged myeloid/lymphoid neoplasms associated with eosinophilia. The World Health Organization MPN category includes eight subcategories: chronic myelogenous leukemia, polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), mastocytosis, chronic eosinophilic leukemia not otherwise specified, chronic neutrophilic leukemia, and MPN unclassifiable. 1 Among these subcategories, the first four (ie, chronic myelogenous leukemia, PV, ET, and PMF) are currently referred to as "classic" MPNs, because they were included in the original description of myeloproliferative disorders by William Dameshek. 3 In general, current evidence supports consideration of all myeloid malignancies, including MPN, as clonal stem cell diseases.JAK2 and MPL mutations occur across the spectrum of myeloid malignancies, including MPN, MDS, MDS/MPN, and acute myeloid leukemia (Table 1). 4 -7 These mutations are most prevalent in the BCR-ABL1-negative classic MPN (ie, PV, ET, and PMF), which are morphologically characterized by the absence of both cellular dysplasia

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The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases

Cited by 327 publications

References 45 publications

Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

Portal Vein Thrombosis

Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms

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