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      • Department of Molecular Biology and Genetics
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      A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family

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      Author(s)
      Guran, Ş.
      Beyan, C.
      Nevruz, O.
      Yakıcıer, C.
      Tunca, Y.
      Date
      2005
      Source Title
      Clinical and Laboratory Haematology
      Print ISSN
      0141-9854
      Publisher
      Blackwell Publishing Ltd
      Volume
      27
      Issue
      2
      Pages
      135 - 138
      Language
      English
      Type
      Article
      Item Usage Stats
      179
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      Abstract
      Li-Fraumeni syndrome is a familial cancer syndrome characterized by different tumors and hereditary p53 mutations. Here, a chronic myeloid leukemia-like syndrome case in a Li-Fraumeni syndrome family with del (12) (p12) cytogenetic abnormality was presented. A hereditary p53 mutation (pro309ser) supported the Li-Fraumeni syndrome diagnosis in this family. This syndrome was characterized by the clonal myeloproliferative accumulation in bone marrow and peripheral blood with negative bcr/abl gene rearrangement finding. The etiology of this rare syndrome is still unclear. This is the only chronic myeloid leukemia-like syndrome case reported in a Li-Fraumeni syndrome family. Del (12) (p12) was observed in leukemias except chronic myeloid leukemia-like syndrome. The deletion in chromosome 12pl2 with hereditary p53 mutation should have a critical role in chronic myeloid leukemia-like syndrome etiology in our case. © 2005 Blackwell Publishing Ltd.
      Keywords
      bcr/abl translocation
      Chronic myeloid
      Leukemia-like syndrome
      Li-Fraumeni syndrome
      p53
      Philadelphia chromosome
      DNA
      Protein p53
      RNA
      Permalink
      http://hdl.handle.net/11693/24082
      Published Version (Please cite this version)
      http://dx.doi.org/10.1111/j.1365-2257.2005.00679.x
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