| JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. | |
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MedLine Citation:
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PMID: 20362232 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klinefelter syndrome (KS) is the most commonly diagnosed X chromosome aneuploid syndrome among males. The association between hematologic malignancies such as non-Hodgkin lymphoma and leukemia and KS has been established recently on the basis of numerous case reports and a large cohort study. The risk of chronic myeloproliferative disease (MPD) as a hematologic malignancy in KS, however, has not been evaluated to date. Moreover, to our knowledge, there is only one case report that observed MPD in a patient with KS. Even though the Janus kinase 2 (JAK2) mutation was considered the primary cause in the pathogenesis of MPD, the mutation status was not described in that report. We found JAK2 V617F mutation-positive essential thromobocythemia (ET) in a patient with KS. To the best of our knowledge, this case represents the first case report of JAK2 V617F mutation in a patient with KS. Furthermore, we also suggest the hypothesis that X chromosome aneuploidy as a "pre-JAK2" cytogenetic change may be associated with the development of clonal hematopoiesis and carcinogenesis, because of the finding of higher oncogenic potential of extra X chromosome. In this study, we present the first report of JAK2 V617F-positive ET in a patient with KS, as well as a review of the relevant literature. |
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Authors:
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Ho-Young Yhim; Hee Sun Kim; Ji-Youn Sohn; Min-Ju Song; Na-Ri Lee; Eun-Kee Song; Sam-Im Choi; Chang-Yeol Yim; Jae-Yong Kwak |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Cancer genetics and cytogenetics Volume: 198 ISSN: 1873-4456 ISO Abbreviation: Cancer Genet. Cytogenet. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-05 Completed Date: 2010-04-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909240 Medline TA: Cancer Genet Cytogenet Country: United States |
Other Details:
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Languages: eng Pagination: 162-5 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Division of Hematology/Oncology, Department of Internal Medicine, Chonbuk National University Medical School, Jeonju, 561-712 Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Substitution / genetics Chromosome Banding Humans Janus Kinase 2 / genetics*, metabolism Klinefelter Syndrome / complications, genetics* Male Mutation, Missense / physiology Phenylalanine / genetics Thrombocythemia, Essential / complications, genetics* Valine / genetics |
| Chemical | |
Reg. No./Substance:
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63-91-2/Phenylalanine; 7004-03-7/Valine; 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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