家族性血小板疾病中一种新的RUNX1突变，易发展为髓系恶性肿瘤。
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
作者信息
Kirito Keita, Sakoe Kumi, Shinoda Daisuke, Takiyama Yoshihisa, Kaushansky Kenneth, Komatsu Norio
出版信息
Haematologica. 2008 Jan;93(1):155-6. doi: 10.3324/haematol.12050.
PMID:18166807
Abstract
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.
摘要
我们描述了一个患有家族性血小板疾病且易发展为髓系恶性肿瘤（FPD/MM）的日本家庭。在三名受影响的个体中，有两名成员发展为髓系恶性肿瘤。序列研究表明，该家系中所有受影响的个体在RUNX1基因第8外显子中均表现出杂合单核苷酸缺失。
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