Guran S, Beyan C, Nevruz O, Yakicier C, Tunca Y
Department of Medical Biology, Gülhane Military Medical Academy, Ankara, Turkey.
Clin Lab Haematol. 2005 Apr;27(2):135-8. doi: 10.1111/j.1365-2257.2005.00679.x.
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 12p12 with hereditary p53 mutation should have a critical role in chronic myeloid leukemia-like syndrome etiology in our case.
李-弗劳梅尼综合征是一种家族性癌症综合征，其特征为不同肿瘤和遗传性p53突变。在此，我们报告了1例李-弗劳梅尼综合征家族中的慢性髓性白血病样综合征病例，该病例存在细胞遗传学异常del(12)(p12)。遗传性p53突变（pro309ser）支持该家族的李-弗劳梅尼综合征诊断。该综合征的特征是骨髓和外周血中出现克隆性骨髓增殖性积聚，且bcr/abl基因重排检测结果为阴性。这种罕见综合征的病因仍不清楚。这是李-弗劳梅尼综合征家族中报道的唯一1例慢性髓性白血病样综合征病例。除慢性髓性白血病样综合征外，在白血病中还观察到del(12)(p12)。在我们的病例中，12号染色体p12缺失伴遗传性p53突变在慢性髓性白血病样综合征病因中应起关键作用。
