A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family
Date
2005Source Title
Clinical and Laboratory Haematology
Print ISSN
0141-9854
Publisher
Blackwell Publishing Ltd
Volume
27
Issue
2
Pages
135 - 138
Language
English
Type
ArticleItem Usage Stats
179
views
views
226
downloads
downloads
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 translocationChronic myeloid
Leukemia-like syndrome
Li-Fraumeni syndrome
p53
Philadelphia chromosome
DNA
Protein p53
RNA