Mateo M, Mollejo M, Villuendas R, Algara P, Sanchez-Beato M, Martínez P, Piris M A
Departments of Genetics and Pathology, "Virgen de la Salud" Hospital, Toledo, Spain.
Am J Pathol. 1999 May;154(5):1583-9. doi: 10.1016/S0002-9440(10)65411-9.
Splenic marginal zone lymphoma (SMZL) has been recognized as an entity defined on the basis of its morphological, phenotypic, and clinical characteristic features. Nevertheless, no characteristic genetic alterations have been described to date for this entity, thus making an exact diagnosis of SMZL difficult in some cases. As initial studies showed that chromosome region 7q22-32 is deleted in some of these cases, we analyzed a larger group of SMZL and other lymphoproliferative disorders that may partially overlap with it. To better define the frequency of 7q deletion in SMZL and further identify the deleted region, polymerase chain reaction analysis of 13 microsatellite loci spanning 7q21-7q36 was performed on 20 SMZL and 26 non-SMZL tissue samples. The frequency of allelic loss in SMZL (8/20; 40%) was higher than that observed in other B-cell lymphoproliferative syndromes (2/26; 7.7%). This difference was statistically significant (P < 0.05). The most frequently deleted microsatellite was D7S487 (5/11; 45% of informative cases). Surrounding this microsatellite the smallest common deleted region of 5cM has been identified, defined between D7S685 and D7S514. By comparative multiplex polymerase chain reaction analysis, we detected a homozygous deletion in the D7S685 (7q31.3) marker in one case. These results suggest that 7q31-q32 loss may be used as a genetic marker of this neoplasia, in conjunction with other morphologic, phenotypic, and clinical features. A correlation between 7q allelic loss and tumoral progression (death secondary to the tumor or large cell transformation) in SMZL showed a borderline statistical significance. The observation of a homozygous deletion in this chromosomal region may indicate that there is a tumor suppressor gene involved in the pathogenesis of this lymphoproliferative neoplasia.
脾边缘区淋巴瘤（SMZL）已被公认为是一种基于其形态学、表型和临床特征定义的疾病实体。然而，迄今为止尚未描述该疾病实体的特征性基因改变，因此在某些情况下难以对SMZL做出准确诊断。由于初步研究表明部分此类病例存在7q22 - 32染色体区域缺失，我们分析了一组更大的SMZL以及可能与之部分重叠的其他淋巴增殖性疾病。为了更好地确定SMZL中7q缺失的频率并进一步鉴定缺失区域，我们对20例SMZL组织样本和26例非SMZL组织样本进行了跨越7q21 - 7q36的13个微卫星位点的聚合酶链反应分析。SMZL中等位基因缺失的频率（8/20；40%）高于其他B细胞淋巴增殖综合征（2/26；7.7%）。这种差异具有统计学意义（P < 0.05）。最常缺失的微卫星是D7S487（5/1已提供参考译文，你可以根据实际需求进行调整。如你还有其他疑问或需要进一步的帮助，请随时告诉我。1；信息性病例的45%）。围绕该微卫星已鉴定出最小的常见缺失区域为5cM，定义在D7S685和D7S514之间。通过比较多重聚合酶链反应分析，我们在1例病例中检测到D7S685（7q31.3）标记的纯合缺失。这些结果表明，7q31 - q32缺失可作为该肿瘤的遗传标志物，结合其他形态学、表型和临床特征使用。SMZL中7q等位基因缺失与肿瘤进展（肿瘤相关死亡或大细胞转化）之间的相关性显示出临界统计学意义。在该染色体区域观察到纯合缺失可能表明存在一个参与这种淋巴增殖性肿瘤发病机制的肿瘤抑制基因。
