Characterization of myelodysplastic syndrome and aplastic anemia by immunostaining of p53 and hemoglobin F and karyotype analysis: Differential diagnosis between refractory anemia and aplastic anemia
Characterization of myelodysplastic syndrome and aplastic anemia by immunostaining of p53 and hemoglobin F and karyotype analysis: Differential diagnosis between refractory anemia and aplastic anemia
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通过 p53 和血红蛋白 F 免疫染色和核型分析表征骨髓增生异常综合征和再生障碍性贫血：难治性贫血和再生障碍性贫血的鉴别诊断
DOI：
10.1111/j.1440-1827.2008.02236.x
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发表时间：
2008
影响因子：
2.2
通讯作者：
T. Murate
中科院分区：
文献类型：
--
作者：
T. Iwasaki;M. Murakami;C. Sugisaki;S. Sobue;H. Ohashi;H. Asano;Motoshi Suzuki;S. Nakamura;Masafumi Ito;T. Murate
P53基因突变在多种实体瘤、急性白血病和骨髓增生异常综合征（MDS）中均有报道，但其在MDS中的诊断意义尚不明确。本论文的目的是检查p53突变和免疫染色的同一患者，因为有很少的报告，同时分析这些标志物。在37例MDS和11例MDS转化的显性白血病（MDS-OL）中观察到7例p53突变。主要在高危MDS中观察到的突变型p53比野生型p53过表达的MDS具有更强的p53染色。再生障碍性贫血（AA）不产生p53染色。MDS中p53染色的百分比（71%）高于突变的p53（11%），但未达到所研究的100%的MDS病例，因此作者尝试使用p53免疫染色、血红蛋白F（HbF）免疫染色和染色体异常相结合来区分MDS，特别是难治性贫血（RA）和AA，因为据报道在MDS RA中观察到成红细胞的HbF，而在AA中未观察到。大多数MDS/MDS-OL（47/48）至少有一种阳性标志物。在11例AA患者中，只有2例HbF阳性。本研究结果表明，这三个标志物的组合是有用的区分MDS从AA。
P53 mutation has been reported in various solid tumors, acute leukemia and myelodysplastic syndrome (MDS), but the diagnostic significance of p53 in MDS remains to be determined. The purpose of the present paper was to examine p53 mutation and immunostaining of the same patients, because there have been few reports of simultaneous analysis of these markers. Seven p53 mutations were observed among 37 MDS and 11 cases of overt leukemia transformed from MDS (MDS‐OL). Mutated p53 mainly observed in high‐risk MDS had more intense p53 staining than in MDS with wild‐type p53 overexpression. Aplastic anemia (AA) produced no p53 staining. The percentage of p53 staining in MDS (71%) was higher than that of mutated p53 (11%) but did not reach 100% of MDS cases studied, therefore the authors attempted to differentiate MDS, especially refractory anemia (RA) and AA, using a combination of p53 immunostaining, hemoglobin F (HbF) immunostaining and chromosome abnormality, because HbF of erythroblasts was reportedly observed in MDS RA but not in AA. Most MDS/MDS‐OL (47/48) had at least one positive marker. Among 11 AA cases, only two were positive for HbF. The present results suggest that the combination of these three markers is useful to discriminate MDS from AA.