The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients
Open accessAbstract
We recently defined a high-molecular risk category (HMR) in primary myelofibrosis (PMF), based on the presence of at least one of the five ‘prognostically detrimental’ mutated genes (ASXL1, EZH2, SRSF2 and IDH1/2). Herein, we evaluate the additional prognostic value of the ‘number’ of mutated genes. A total of 797 patients were recruited from Europe (n=537) and the Mayo Clinic (n=260). In the European cohort, 167 (31%) patients were HMR: 127 (23.6%) had one and 40 (7.4%) had two or more mutated genes. The presence of two or more mutations predicted the worst survival: median 2.6 years (hazard ratio (HR) 3.8, 95% confidence interval (CI) 2.6–5.7) vs 7.0 years (HR 1.9, 95% CI 1.4–2.6) for one mutation vs 12.3 years for no mutations. The results were validated in the Mayo cohort and prognostic significance in both cohorts was independent of International Prognostic Scoring System (IPSS; HR 2.4, 95% CI 1.6–3.6) and dynamic IPSS (DIPSS)-plus (HR 1.9, 95% CI 1.2–3.1), respectively. Two or more mutations were also associated with shortened leukemia-free survival (HR 6.2, 95% CI 3.5–10.7), also Mayo validated. Calreticulin mutations favorably affected survival, independently of both number of mutations and IPSS/DIPSS-plus. We conclude that the ‘number’ of prognostically detrimental mutations provides added value in the combined molecular and clinical prognostication of PMF.
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Vardiman, J. W., Thiele, J., Arber, D. A., Brunning, R. D., Borowitz, M. J., Porwit, A., Harris, N. L., Le Beau, M. M., Hellström-Lindberg, E., Tefferi, A., et al. (2009) · Blood · doi:10.1182/blood-2009-03-209262 · Cited by 4,424
Self-citationSomatic 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
Self-citationClinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832
Self-citationSomatic 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
Self-citationCervantes, F., Dupriez, B., Pereira, A., Passamonti, F., Reilly, J. T., Morra, E., Vannucchi, A. M., Mesa, R. A., Demory, J.-L., Barosi, G., et al. (2009) · Blood · doi:10.1182/blood-2008-07-170449 · Cited by 1,255
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-citationPassamonti, F., Cervantes, F., Vannucchi, A. M., Morra, E., Rumi, E., Pereira, A., Guglielmelli, P., Pungolino, E., Caramella, M., Maffioli, M., et al. (2010) · Blood · doi:10.1182/blood-2009-09-245837 · Cited by 994
Self-citationMutations and prognosis in primary myelofibrosis
Vannucchi, A. M., Lasho, T. L., Guglielmelli, P., Biamonte, F., Pardanani, A., Pereira, A., Finke, C., Score, J., Gangat, N., Mannarelli, C., et al. (2013) · Leukemia · doi:10.1038/leu.2013.119 · Cited by 770
Self-citationClonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms
Lundberg, P., Karow, A., Nienhold, R., Looser, R., Hao-Shen, H., Nissen, I., Girsberger, S., Lehmann, T., Passweg, J., Stern, M., et al. (2014) · Blood · doi:10.1182/blood-2013-11-537167 · Cited by 634
Rumi, E., Pietra, D., Ferretti, V., Klampfl, T., Harutyunyan, A. S., Milosevic, J. D., Them, N. C. C., Berg, T., Elena, C., Casetti, I. C., et al. (2014) · Blood · doi:10.1182/blood-2013-11-539098 · Cited by 602
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Cited by
Spivak, J. L. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1406186 · Cited by 404
Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms
Rumi, E., & Cazzola, M. (2017) · Blood · doi:10.1182/blood-2016-10-695957 · Cited by 258
Self-citationAggressive B-cell lymphomas in patients with myelofibrosis receiving JAK1/2 inhibitor therapy
Porpaczy, E., Tripolt, S., Hoelbl-Kovacic, A., Gisslinger, B., Bago-Horvath, Z., Casanova-Hevia, E., Clappier, E., Decker, T., Fajmann, S., Fux, D. A., et al. (2018) · Blood · doi:10.1182/blood-2017-10-810739 · Cited by 151
Inflammatory Pathophysiology as a Contributor to Myeloproliferative Neoplasms
Fisher, D. A. C., Fowles, J. S., Zhou, A., & Oh, S. T. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.683401 · Cited by 115
Metadata
- Authors
- Guglielmelli, P., Lasho, T. L., Rotunno, G., Score, J., Mannarelli, C., Pancrazzi, A., Biamonte, F., Pardanani, A., Zoi, K., Reiter, A., Duncombe, A., Fanelli, T., Pietra, D., Rumi, E., Finke, C., Gangat, N., Ketterling, R. P., Knudson, R. A., Hanson, C. A., Bosi, A., Pereira, A., Manfredini, R., Cervantes, F., Barosi, G., Cazzola, M., Cross, N. C. P., Vannucchi, A. M., & Tefferi, A.
- Venue
- Leukemia
- Published
- 2014-02-19
- Volume
- 28
- Issue
- 9
- Pages
- 1804-1810
- ISSN
- 0887-6924 (ISSN-L)
- 1476-5551
- OpenAlex
- W2024401882
- Cited by
- 310
- References
- 18
- FWCI
- 18.01
- Type
- journal article
- Language
- en
- Open access
- green
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- Guglielmelli, P., Lasho, T. L., Rotunno, G., Score, J., Mannarelli, C., Pancrazzi, A., Biamonte, F., Pardanani, A., Zoi, K., Reiter, A., Duncombe, A., Fanelli, T., Pietra, D., Rumi, E., Finke, C., Gangat, N., Ketterling, R. P., Knudson, R. A., Hanson, C. A., . . . Tefferi, A. (2014). The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia. https://doi.org/10.1038/leu.2014.76
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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