| JAK2 V617F mutation is uncommon in patients with the 3q21q26 syndrome. | |
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MedLine Citation:
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PMID: 20153505 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 3q21q26 syndrome is recognized as a distinct clinicopathologic entity. Patients have a myeloid neoplasm associated with 3q21q26 cytogenetic abnormalities and present with anemia, leukopenia, and either thrombocytosis or a normal platelet count associated with dysplasia. To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26). The platelet count ranged from 142 to 597 x 10(3)/microL. Using polymerase chain reaction and pyrosequencing assays, no evidence of JAK2 V617F was identified in 11 of 12 cases. A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. Separate DNA analysis of myeloblasts and mast cells after laser capture microdissection confirmed that JAK2 V617F was present in both components. We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm. |
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Authors:
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Pei Lin; Rajyalakshmi Luthra; Roberto H Nussenzveig; L Jeffrey Medeiros |
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Publication Detail:
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Type: Journal Article Date: 2010-02-12 |
Journal Detail:
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Title: Human pathology Volume: 41 ISSN: 1532-8392 ISO Abbreviation: Hum. Pathol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-19 Completed Date: 2010-05-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9421547 Medline TA: Hum Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 758-62 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Hematopathology, The University of Texas M. D. Anderson Cancer Center, Houston, TX 77030, USA. peilin@mdanderson.org |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bone Marrow Chromosome Aberrations Chromosomes, Human, Pair 3 / genetics* Genotype Humans Janus Kinase 2 / genetics* Leukemia, Myeloid, Acute / genetics* Mutation Polymorphism, Single Nucleotide / genetics Severity of Illness Index Syndrome Thrombocytosis / genetics* Thrombopoiesis / genetics |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.112/JAK2 protein, human; EC 2.7.10.1/Janus Kinase 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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