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SNP Analysis of Minimally Evolved t(14;18) (q32;q21)-Positive Follicular Lymphomas Reveals a Common Copy-Neutral Loss of Heterozygosity Pattern

机译:最小进化的t(14; 18)(q32; q21)-阳性滤泡性淋巴瘤的SNP分析显示杂合性模式的常见复制-中性丢失。

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摘要

Follicular lymphoma (FL) cases with a t(14;18)(q32;q21) and minimal or no additional karyotypic alterations, such as copy number gains and losses and/or chromosomal rearrangements, may exhibit pathologic features and a clinical behavior similar to those with more complex karyotypes. This study sought to investigate whether the copy-neutral loss of heterozygosity (cnLOH) profiles of these minimally evolvedt (14;18)(q32;q21)-positive follicular lymphoma (MEV-FL) cases are similar to or different from the majority of FL cases with more karyotypic alterations. Affymetrix SNP 6.0 array analysis was applied to the tumor genomes of 23 MEV-FL biopsy samples to assess for the presence of cnLOH. These cases carried either a single or no chromosomal abnormality in addition to t(14;18)(q32;q21) as determined by karyotyping. We found that, although these MEV-FL cases had simple karyotypes, they showed very similar cnLOH profiles as compared to cytogenetically complex cases. The most frequent regions affected by cnLOH were 1p (17%), 6p (17%), 12q (13%) and 16p (13%). Our study suggests that cnLOH alterations may serve as important contributors to the pathological and clinical manifestations of FL. Copyright (C) 2011 S. Karger AG, Basel
机译:卵泡性淋巴瘤(FL)病例的at(14; 18)(q32; q21)且极少或没有其他核型改变,例如拷贝数增减和/或染色体重排,可能表现出与那些相似的病理特征和临床行为具有更复杂的核型。这项研究试图调查这些最低限度进化(14; 18)(q32; q21)阳性滤泡性淋巴瘤(MEV-FL)病例的复制中性杂合度(cnLOH)分布是否与大多数病例相似或不同。 FL病例具有更多的核型改变。将Affymetrix SNP 6.0阵列分析应用于23个MEV-FL活检样品的肿瘤基因组,以评估cnLOH的存在。除了通过核型分析确定的t(14; 18)(q32; q21)以外,这些病例还携带单个或没有染色体异常。我们发现,尽管这些MEV-FL病例具有简单的核型,但与细胞遗传学复杂的病例相比,它们显示出非常相似的cnLOH谱。受cnLOH影响最频繁的区域是1p(17%),6p(17%),12q(13%)和16p(13%)。我们的研究表明cnLOH改变可能是FL病理和临床表现的重要因素。版权所有(C)2011 S.Karger AG,巴塞尔

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