期刊
BLOOD
卷 119, 期 11, 页码 2612-2614出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2011-02-333435
关键词
-
类别
资金
- Ministry of Health, Labor, and Welfare of Japan
- Ministry of Education, Culture, Sports, Science, and Technology of Japan
- research grant for Gunma Prefectural Hospitals
- Grants-in-Aid for Scientific Research [22591171, 21390316, 22659196, 24390268, 23591560] Funding Source: KAKEN
Familial platelet disorder with a propensity to develop acute myeloid leukemia (FPD/AML) is a rare autosomal dominant disease characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop myelodysplastic syndrome (MDS) and AML. So far,> 20 affected families have been reported. Recently, a second RUNX1 alteration has been reported; however, no additional molecular abnormalities have been found so far. We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia. This finding suggests that alterations of the CBL gene and RUNX1 gene may cooper-ate in the pathogenesis of CMML in patients with FPD/AML. The presence of CBL mutations and 11q-aUPD was an important second hit that could be an indicator of leukemic transformation of MDS or AML in patients with FPD/AML. (Blood. 2012;119(11):2612-2614)
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据