目的：临床发现尽管原发性肠淋巴瘤的免疫表型相同，但预后也可以截然不同，提示其预后不是单一因素所决定的，可能还与其基因或染色体的变异有关。p53基因是一种重要的抑癌基因，13q14缺失是多种淋巴细胞增殖性疾病常见的染色体异常，该研究拟探讨p53基因与13q14染色体变异在原发性肠淋巴瘤的预后判断、指导治疗中的作用，为临床治疗方案的制定提供依据。方法：采用改良的FISH技术检测了30例原发性肠淋巴瘤及10例淋巴结反应性增生患者的石蜡切片中p53基因及13q14染色体变异情况，分析其与原发性肠淋巴瘤预后的关系。结果：①Ⅰ~Ⅱ期患者中22.7%有p53基因缺失，Ⅲ~Ⅳ期患者中75.0%有p53基因缺失（χ2=6.903, P<0.01）；②MALT淋巴瘤中14.3%有p53基因缺失，非MALT淋巴瘤中56.3%有p53基因缺失（χ2=5.662, P<0.05）；③p53基因缺失者平均生存期为13.4月，明显短于p53基因正常者36.1月（t=2.637，P<0.05）;④13q14缺失在原发性肠淋巴瘤中发生率为40%，但在10例淋巴结反应性增生患者的石蜡切片中未检测到。13q14缺失与原发性肠淋巴瘤病理类型、临床分期以及平均生存期的关系不大；⑤p53基因缺失与13q14缺失无明显相关性。结论：p53基因缺失在非MALT淋巴瘤及Ⅲ~Ⅳ期患者中发生率较高。p53基因缺失的原发性肠淋巴瘤病例恶性程度高、预后差，宜早期联合化疗。13q14缺失与患者预后无明显相关性。［中国当代儿科杂志，2009，11（7）：555-558］

OBJECTIVE: Some research has shown that primary intestinal lymphoma with the same immunophenotype has different prognosis. It suggests that the prognosis of this disease is not determined by a single factor but may be related to genetic or chromosomal variations. The p53 gene is an important tumor suppressor gene, and 13q14 deletion is a common chromosomal abnormality of lymphocyte proliferation diseases. This study aimed to explore the role of the p53 gene and chromosome 13q14 variations in the assessment of prognosis in primary intestinal lymphoma. METHODS: p53 gene and chromosome 13q14 expression in paraffin sections of 30 cases of primary intestinal lymphoma and 10 cases of lymph node reactive hyperplasia were ascertained using an improved FISH technique. RESULTS: p53 gene deletion was found in 22.7% of patients with primary intestinal lymphoma at stage I-II and in 75.0% of patients at stage III-IV (χ2=6.903, P<0.01). The 30 patients with primary intestinal lymphoma were pathologically classified into-mucosa-associated lymphoid tissue (MALT) (n=14) and non-MALT types (n=16). The MALT lymphoma group had significantly lower incidence of p53 gene deletion (14.3% vs 56.3%; χ2=5.662, P<0.05). Average survival time in patients with p53 gene deletion was 13.41 months, being shorter than the patients with normal p53 gene (36.1 months) (t=2.637, P<0.05). 13q14 deletion was found in 40.0% of patients with primary intestinal lymphoma, but none of patients with lymph node reactive hyperplasia showed 13q14 deletion. 13q14 deletion was not significantly related to the pathological type and the clinical stage of primary intestinal lymphoma as well as the survival time. There was no significant correlation between p53 gene and 13q14 deletions. CONCLUSIONS: There was a high incidence of p53 gene deletion in patients with non-MALT lymphoma or at stage III-IV. p53 gene deletion is related to a high tumor malignant degree and a poor prognosis, while-chromosome 13q14 variation is not associated with the prognosis in patients with primary intestinal lymphoma.［Chin J Contemp Pediatr, 2009, 11 (7):555-558］