Mesenteric vein thrombosis
Peter Gloviczki, Michael C. Dalsing, Bo Eklöf, Fedor Lurie, Thomas W. Wakefield, Monika L. Gloviczki in Handbook of Venous and Lymphatic Disorders, 2017
Myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are found in about a third of MVT cases and therefore are important considerations in the search for an underlying mechanism.19 These disorders represent a stem cell-derived clonal myeloproliferation. The most common clinical manifestation of this malignancy and the cause of death is venous or arterial thrombosis.20 The JAK2V617F sequence variation with gain of function that leads to independent proliferation is found in 90% of cases of polycythemia vera and up to 50% of cases of essential thrombocythemia. Screening for this mutation is therefore appropriate in the initial evaluation of patients who are suspected of having these disorders, including patients with MVT.21–23 In fact, detection of the JAK2 sequence variation has replaced bone marrow examination as the first test to screen for myeloproliferative neoplasms.22,24
Leukemias
Pat Price, Karol Sikora in Treatment of Cancer, 2020
The 2016 WHO revised classification recognizes myeloproliferative neoplasms (MPNs) to comprise seven subtypes: chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic neutrophilic leukemia (CNL), chronic eosinophilic leukemia, not otherwise specified (CEL), and myeloproliferative neoplasm, unclassifiable (MPN-U). In addition, the WHO 2016 classification recognizes myeloid/lymphoid neoplasms with eosinophilia and rearrangements of PDGFRA, PDGFRB, FGFR1, or PCM-JAK2 (a provisional entity), and mastocytosis (see Table 28.2). CML, PV, ET, and PMF are often referred to collectively as “classic” MPNs and includes patients who transform to myelofibrosis (MF) from PV (post-PV MF) or ET (post-ET MF); in contrast, CNL, CEL, and MPN-U are referred to as “non-classic” or atypical MPNs. The classic MPNs are in turn often divided into BCR-ABL1-positive (CML) and -negative (PV, ET, and PMF).
Acute Myeloid Leukemia
Dongyou Liu in Tumors and Cancers, 2017
Myeloid neoplasms are classified into eight major entities: (i) myeloproliferative neoplasms; (ii) mastocytosis; (iii) myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1 or with PCM1-JAK2; (iv) Myelodisplastic/myeloproliferative neoplasms; (v) Myelodisplastic syndromes/neoplasms; (vi) myeloid neoplasms with germline predisposition; (vii) acute myeloid leukemia and related precursor neoplasms; and (viii) acute leukemias of ambiguous lineage [1–3].
Frequency of JAK2V617F, MPL and CALR driver mutations and associated clinical characteristics in a Norwegian patient cohort with myeloproliferative neoplasms
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Susanne Lilleskare, Marta Vorland, Anh Khoi Vo, Aasne K. Aarsand, Håkon Reikvam
Myeloproliferative neoplasms are malignant hematological diseases characterized by abnormal growth in one or more myeloid cell lines. The disease group includes polycythemia vera, essential thrombocytosis, primary myelofibrosis and chronic myelogenous leukemia [1,2]. The latter differs from the other conditions by the presence of the Philadelphia chromosome, which gives rise to the fusion gene BCR-ABL1 [1]. Thus, further mention of myeloproliferative neoplasms relates to the three Philadelphia chromosome-negative conditions; polycythemia vera, essential thrombocytosis and primary myelofibrosis. These diseases are also characterized by an increased risk of thromboembolic events, and transformation to more malignant conditions, including acute myelogenous leukemia or myelofibrosis [2].
Janus kinase inhibition and symptom control in myeloproliferative neoplasms
Published in Current Medical Research and Opinion, 2018
Prithviraj Bose, Mahesh Swaminathan
In the United States, ruxolitinib is approved for use in patients with intermediate-1, intermediate-2 or high risk MF, and consensus guidelines endorse its use in patients with low risk disease who have troublesome splenomegaly and/or MF-related symptoms3. In contrast, in the European Union, ruxolitinib is licensed for use in patients with MF not based on the risk of death, but rather based on the presence of splenomegaly and/or symptoms. Indeed, symptom burden can be substantial in the myeloproliferative neoplasms (MPNs) and particularly in MF4,5, and clinical improvement (CI) in symptoms is recognized as a response criterion in MF by the International Working Group for Myelofibrosis Research and Treatment (IWG-MRT)6. In general, symptoms in MF are attributed to the elevated cytokine levels characteristic of the disease that are broadly suppressed by ruxolitinib7,8.
Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation
Published in Platelets, 2020
Rémi Favier, Xavier Roussel, Sylvain Audia, Jean Claude Bordet, Emmanuel De Maistre, Pierre Hirsch, Anne Neuhart, Isabelle Bedgedjian, Vasiliki Gkalea, Marie Favier, Etienne Daguindau, Paquita Nurden, Eric Deconinck
HSCT has been reported as a curative treatment for other inherited thrombocytopenias: Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, congenital amegakaryocytic thrombocytopenia and Bernard Soulier syndrome [9–12]. To our knowledge, this is the first case of GPS with an unusual and severe myelofibrosis successfully treated by HSCT. Our case is clearly distinct from a previous report of HSCT from a GPS donor for his sister with acute lymphoblastic leukemia who further developed a GPS syndrome[13]. HSCT was decided due to the early appearance of a severe pancytopenia and a long-term blood transfusion dependence. The cause of this remains unknown, but was not associated with common myeloproliferative neoplasms. No additional mutations or an increased level of peripheral CD34+ blood cells were detected. In Gunay-Agun’sreport[5] on a series of 21 GPS patients, 7 out of 8 evaluated with a bone marrow biopsy, presented initially or developed ≥ grade 2 myelofibrosis sometimes as early as in 10 years old patients, and platelets counts were inversely correlated with age but no pancytopenia was reported. The unusual evolution at an early age of our case is novel, and interestingly has not been observed for his siblings who carry the same compound heterozygous mutation strongly suggesting that the site of the mutation on the NBEAL2 gene is not the only cause of the severe and early myelofibrosis[4].
Related Knowledge Centers
- Calreticulin
- White Blood Cell
- Platelet
- Bone Marrow
- Neoplasm
- Red Blood Cell
- Malignancy
- Acute Myeloid Leukemia
- Janus Kinase 2
- Primary Myelofibrosis