The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.
Myeloproliferative Neoplasms: A Contemporary Review
Abstract
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF. These mutations might be accompanied by other mutations that are less specific to myeloproliferative neoplasms but are prognostically relevant, such as additional sex combs-like 1 (ASXL1). Characteristic bone marrow morphology is required for World Health Organization-compliant diagnosis, especially in distinguishing ET from prefibrotic PMF and masked PV. Survival is the longest in ET, although still inferior to that of the age- and sex-matched control population; median survivals for patients younger than 60 years are approximately 33 years for ET, 24 for PV, and 15 for PMF. Major disease complications include thrombosis and leukemic or fibrotic transformation. In PV and ET, risk factors for survival include older age, leukocytosis, and thrombosis, whereas JAK2 mutation in ET is associated with increased risk of thrombosis. In PMF, type 1 or type 1-like CALR mutations are associated with superior and ASXL1 with inferior survival. Prevention of thrombosis in PV is secured by phlebotomy (hematocrit target <45%) and in both PV and ET by low-dose aspirin therapy; high-risk patients derive additional antithrombotic benefit from cytoreductive therapy with hydroxyurea as first-line and interferon-alfa and busulfan as second-line drugs of choice. Although the JAK inhibitor ruxolitinib was recently approved for use in hydroxyurea-resistant PV, its role in routine clinical practice remains debatable. In myelofibrosis, stem cell transplant is the current treatment of choice for genetically or clinically high-risk disease; for all other patients requiring treatment, participation in clinical trials may be preferred because currently available drugs, including JAK inhibitors, are palliative and not shown to be disease modifying.
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Cites
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
James, C., Ugo, V., Le Couédic, J.-P., Staerk, J., Delhommeau, F., Lacout, C., Garçon, L., Raslova, H., Berger, R., Bennaceur-Griscelli, A., et al. (2005) · Nature · doi:10.1038/nature03546 · Cited by 3,544
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1409405 · Cited by 3,531
Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms
Klampfl, T., Gisslinger, H., Harutyunyan, A. S., Nivarthi, H., Rumi, E., Milosevic, J. D., Them, N. C. C., Berg, T., Gisslinger, B., Pietra, D., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1311347 · Cited by 2,003
Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2
Nangalia, J., Massie, C. E., Baxter, E. J., Nice, F. L., Gundem, G., Wedge, D. C., Avezov, E., Li, J., Kollmann, K., Kent, D. G., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1312542 · Cited by 1,756
MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia
Pikman, Y., Lee, B. H., Mercher, T., McDowell, E., Ebert, B. L., Gozo, M., Cuker, A., Wernig, G., Moore, S., Galinsky, I., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030270 · Cited by 1,449
Safety and Efficacy of INCB018424, a JAK1 and JAK2 Inhibitor, in Myelofibrosis
Verstovsek, S., Kantarjian, H., Mesa, R. A., Pardanani, A. D., Cortes-Franco, J., Thomas, D. A., Estrov, Z., Fridman, J. S., Bradley, E. C., Erickson-Viitanen, S., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1002028 · Cited by 1,164
Self-citationGangat, N., Caramazza, D., Vaidya, R., George, G., Begna, K., Schwager, S., Van Dyke, D., Hanson, C., Wu, W., Pardanani, A., et al. (2011) · Journal of Clinical Oncology · doi:10.1200/jco.2010.32.2446 · Cited by 1,055
Self-citationEfficacy and Safety of Low-Dose Aspirin in Polycythemia Vera
Landolfi, R., Marchioli, R., Kutti, J., Gisslinger, H., Tognoni, G., Patrono, C., & Barbui, T. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa035572 · Cited by 1,012
Cited by
Increased stem cell proliferation in atherosclerosis accelerates clonal hematopoiesis
Heyde, A., Rohde, D., McAlpine, C. S., Zhang, S., Hoyer, F. F., Gerold, J. M., Cheek, D., Iwamoto, Y., Schloss, M. J., Vandoorne, K., et al. (2021) · Cell · doi:10.1016/j.cell.2021.01.049 · Cited by 267
JAK2V617F-Mediated Clonal Hematopoiesis Accelerates Pathological Remodeling in Murine Heart Failure
Sano, S., Wang, Y., Yura, Y., Sano, M., Oshima, K., Yang, Y., Katanasaka, Y., Min, K.-D., Matsuura, S., Ravid, K., et al. (2019) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2019.05.013 · Cited by 170
Cerchione, C., Peluso, I., Nappi, D., Pareto, A. E., Picardi, M., Martinelli, V., & Pane, F. (2017) · Annals of Hematology · doi:10.1007/s00277-017-2938-5 · Cited by 12
Metadata
- Authors
- Tefferi, A., & Pardanani, A.
- Venue
- JAMA Oncology
- Publisher
- American Medical Association (AMA)
- Published
- 2015-04-01
- Volume
- 1
- Issue
- 1
- Pages
- 97
- ISSN
- 2374-2437 (ISSN-L)
- OpenAlex
- W2030356048
- Cited by
- 342
- References
- 60
- FWCI
- 16.96
- Type
- journal article
- Language
- en
- Open access
- closed
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