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目的近年研究表明位于５ｑ２ｌ的ＡＰＣ抑癌基因涉及多种肿瘤的发生发展，而关于其与存在５ｑ频繁丢失的髓系恶性疾病的关系尚未见报道。此文分析７例骨髓增生异常综合征（ＭＤＳ）和３６例急性非淋巴细胞白血病（ＡＮＬＬ）中ＡＰＣ的等位基因缺失，并讨论其与髓系表型特异性、临床表现及预后的相关性。方法采用杂合性缺失（ｌｏｓｓｏｆｈｅｔｅｒｏｚｙｇｏｓｉｔｙ，ＬＯＨ）试验（包括ＰＣＲ＋ＲＦＬＰ及ＰＣＲＳＳＣＰ技术），分析ＭＤＳ和ＡＮＬＬ中ＡＰＣ基因的缺失频率，并以正常人作对照。同时建立一个瘤细胞标本纯度参照体系以降低标本不纯对ＬＯＨ分析的影响。结果能提供缺失信息的包括９例正常人、２２例ＡＮＬＬ和４例ＭＤＳ。正常组未见１例发生ＬＯＨ（０／９），ＭＤＳ组１例ＲＡＥＢ阳性（１／４），而ＡＮＬＬ中ＬＯＨ阳性的有４例，其中３例为Ｍ２：（３／６），１例为Ｍ４ａ（１／１）。统计学证实Ｍ２ａ的阳性率与正常组差别有显著性（Ｐ＝０．０４４）。ＬＯＨ阳性的ＡＭＬ共同点有：（１）中老年人偏多；（２）外周血白细胞数较高，但浸润现象不明显；（３）对化疗较敏感。结论ＡＰＣ基因的异常可能是发生于髓系恶性疾病中粒系异常克隆的一个独立分子事件，代表着一部分具有特?
Purpose Recent studies have shown that APC tumor suppressor gene located at 5q21 is involved in the development of many kinds of tumors, but there is no report on its relationship with the frequent loss of 5q myeloid malignancies. This article analyzed the allelic deletions of APC in seven cases of myelodysplastic syndrome (MDS) and 36 cases of acute non-lymphocytic leukemia (ANLL) and discussed their association with myeloid phenotype specificity, clinical presentation, and prognosis . Methods LOH (loss of heterozygosity, LOH) test (including PCR + RFLP and PCRSSCP) was used to analyze the frequency of APC gene deletion in MDS and ANLL, and normal controls were used. At the same time, a reference system for the purity of tumor cells was established to reduce the impact of sample impurity on LOH analysis. Results The information that provided the missing information included 9 normal subjects, 22 ANLLs and 4 MDSs. One case of LOH (0/9) was not found in normal group, one case of RAEB was positive (1/4) in MDS group, and 4 cases were LOH positive in ANLL group, of which 3 cases were M2 (3/6) and 1 case M4a (1/1). Statistically confirmed the positive rate of M2a and the difference between the normal group was significant (P = 0.044). LOH-positive AML common points are: (1) more than the elderly; (2) the higher the number of peripheral white blood cells, but the infiltration is not obvious; (3) more sensitive to chemotherapy. Conclusions The abnormality of APC gene may be an independent molecular event that occurs in the aberrant myeloid clones in myeloid malignancies and represents a part of the abnormality of APC gene.