The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort
Abstract
Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet cDNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F− patients and a single V617F+ patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F+ ET patients, those with MPL mutations displayed lower hemoglobin and higher platelet levels at diagnosis, higher serum erythropoietin levels, endogenous megakaryocytic but not erythroid colony growth, and reduced bone marrow erythroid and overall cellularity. Compared with V617F− patients, those with MPL mutations were older with reduced bone marrow cellularity but could not be identified as a discrete clinicopathologic subgroup. MPL mutations lacked prognostic significance with respect to thrombosis, major hemorrhage, myelofibrotic transformation or survival.
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Cites
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
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Self-citationA unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
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A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
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MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia
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Self-citationMPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients
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Self-citationThe Myeloproliferative Disorders
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Guideline for investigation and management of adults and children presenting with a thrombocytosis
Harrison, C. N., Bareford, D., Butt, N., Campbell, P., Conneally, E., Drummond, M., Erber, W., Everington, T., Green, A. R., Hall, G. W., et al. (2010) · British Journal of Haematology · doi:10.1111/j.1365-2141.2010.08122.x · Cited by 317
Self-citationJanus kinase inhibitors for the treatment of myeloproliferative neoplasias and beyond
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Metadata
- Authors
- Beer, P. A., Campbell, P. J., Scott, L. M., Bench, A. J., Erber, W. N., Bareford, D., Wilkins, B. S., Reilly, J. T., Hasselbalch, H. C., Bowman, R., Wheatley, K., Buck, G., Harrison, C. N., & Green, A. R.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2008-07-01
- Volume
- 112
- Issue
- 1
- Pages
- 141-149
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2143039662
- Cited by
- 431
- References
- 40
- FWCI
- 17.17
- Type
- journal article
- Language
- en
- Open access
- closed
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- Beer, P. A., Campbell, P. J., Scott, L. M., Bench, A. J., Erber, W. N., Bareford, D., Wilkins, B. S., Reilly, J. T., Hasselbalch, H. C., Bowman, R., Wheatley, K., Buck, G., Harrison, C. N., & Green, A. R. (2008). MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. https://doi.org/10.1182/blood-2008-01-131664
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