Department of Pediatrics, Shinshu University School of Medicine, Asahi, Matsumoto, Japan.
Leuk Res. 2011 Dec;35(12):1578-84. doi: 10.1016/j.leukres.2011.06.027. Epub 2011 Jul 23.
Among 9 children with myelodysplastic syndrome (MDS) and 18 children with juvenile myelomonocytic leukemia, one MDS patient with der(5;17)(p10;q10) exhibited deletion of the TP53 gene in one allele and mutation (410 T>A) in the other allele in myeloid and erythroid cells. Since the mutation was not detected in peripheral blood leukocytes 9 months before the diagnosis, biallelic somatic inactivation of the TP53 gene might play an important role in the occurrence of MDS. His poor outcome might be associated with resistance to chemotherapy/radiation of a minor clone with both TP53 gene alteration and MLL duplication that already existed at onset.
在 9 例骨髓增生异常综合征（MDS）患儿和 18 例幼年型粒单核细胞白血病患儿中，1 例 MDS 患者在髓系和红系细胞中一条等位基因上出现 TP53 基因缺失，另一条等位基因上出现突变（410T>A）。由于该突变在诊断前 9 个月未在外周血白细胞中检测到，因此 TP53 基因的双等位体细胞失活可能在 MDS 的发生中起重要作用。他的不良预后可能与化疗/放疗耐药有关，该患者在发病时就存在同时具有 TP53 基因突变和 MLL 重复的小克隆。
