Array 比较基因组杂交 (aCGH) 与 FISH 和细胞遗传学在慢性淋巴细胞白血病预后评估中的比较。

Comparison of array comparative genomic hybridization (aCGH) to FISH and cytogenetics in prognostic evaluation of chronic lymphocytic leukemia.

机构信息

Clarient, Inc., Columbia, Aliso Viejo, CA 92656-1460, USA.

出版信息

Int J Lab Hematol. 2011 Jun;33(3):238-44. doi: 10.1111/j.1751-553X.2010.01284.x. Epub 2010 Dec 9.

DOI:10.1111/j.1751-553X.2010.01284.x

PMID:21143592

Abstract

INTRODUCTION

High-resolution array comparative genomic hybridization (aCGH) is a method of evaluating chromosomal alterations over the entire genome. We compared aCGH with routine cytogenetics and FISH in detecting genetic alterations in chronic lymphocytic leukemia (CLL).

METHODS

Array comparative genomic hybridization testing was performed on 55 cases of CLL in addition to a standard panel of FISH probes (ATM on 11q22, trisomy 12, 13q14, p53 on 17p13). The frequency of detecting abnormalities was compared, and discordant results between methodologies were compared.

RESULTS

Fifty-five CLL cases [male to female ratio of 2.2:1 and a mean age of 71 (52-90)] were analyzed by both aCGH and FISH. This group of CLL cases showed genetic abnormalities by FISH (60%; 27/45). In contrast to FISH, aCGH detected genetic abnormalities in 82% (45/55) of CLL cases; aCGH identified genetic abnormalities not detected by FISH studies in 16% (7/45) of cases, whereas FISH identified abnormalities not detected by aCGH in only 7% (3/45) of cases. Rare recurring genetic alterations were detected by aCGH including losses in 6q, 8p, 10q, 14q32, and 18q and gains in 10q.

DISCUSSION

Our findings suggest aCGH is an effective technique for evaluating recurring genetic abnormalities in CLL and improves on standard FISH in detecting genetic abnormalities in CLL.

摘要

简介

高分辨率阵列比较基因组杂交（aCGH）是一种评估整个基因组中染色体改变的方法。我们将 aCGH 与常规细胞遗传学和 FISH 进行比较，以检测慢性淋巴细胞白血病（CLL）中的遗传改变。

方法

除了标准的 FISH 探针（11q22 上的 ATM、12 三体、13q14、17p13 上的 p53）外，还对 55 例 CLL 进行了阵列比较基因组杂交检测。比较了检测异常的频率，并比较了方法之间不一致的结果。

结果

通过 aCGH 和 FISH 分析了 55 例 CLL 病例[男女比例为 2.2:1，平均年龄为 71（52-90）]。这组 CLL 病例通过 FISH 显示出遗传异常（60%；27/45）。与 FISH 相比，aCGH 在 82%（45/55）的 CLL 病例中检测到遗传异常；aCGH 在 16%（7/45）的病例中检测到 FISH 研究未检测到的遗传异常，而 FISH 在仅 7%（3/45）的病例中检测到 aCGH 未检测到的异常。aCGH 检测到罕见的重复遗传改变，包括 6q、8p、10q、14q32 和 18q 的缺失以及 10q 的增益。