A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family
Clinical and Laboratory Haematology, cilt.27, sa.2, ss.135-138, 2005 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 27 Sayı: 2
- Basım Tarihi: 2005
- Doi Numarası: 10.1111/j.1365-2257.2005.00679.x
- Dergi Adı: Clinical and Laboratory Haematology
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.135-138
- Anahtar Kelimeler: Li-Fraumeni syndrome, Philadelphia chromosome, bcr/abl translocation, chronic myeloid leukemia-like syndrome, p53
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
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.