Detection of trisomy 12 in chronic lymphocytic leukemia by fluorescence in situ hybridization to interphase cells: a simple and sensitive method.
Detection of trisomy 12 in chronic lymphocytic leukemia by fluorescence in situ hybridization to interphase cells: a simple and sensitive method.
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DOI：
10.1182/blood.v79.7.1796.1796
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发表时间：
1992-04
期刊：
影响因子：
20.3
通讯作者：
J. Anastasi;M. Beau;J. Vardiman;A. Fernald;R. Larson;J. Rowley
中科院分区：
文献类型：
--
作者：
J. Anastasi;M. Beau;J. Vardiman;A. Fernald;R. Larson;J. Rowley
12三体是慢性淋巴细胞白血病（CLL）中最常见的细胞遗传学异常，许多研究表明它可能是一个不良预后指标。我们已经评估了有用的荧光原位杂交与12号染色体特异性探针作为一种简单的手段检测12三体间期细胞。40例B细胞CLL先前研究与传统的细胞遗传学技术进行了分析与生物素标记的探针的着丝粒区域的12号染色体。这些回顾性病例中的30例可以用原位杂交重新评估。我们的分析显示，三个杂交信号（即12三体）在间期细胞从7个先前发现有12三体的7例。在另外5例病例中也检测到12三体：1例被认为具有正常核型，2例不适合常规细胞遗传学分析，2例被发现具有不含12三体的异常核型。在一个前瞻性系列的20个新累积的CLL病例中，所有病例均通过原位杂交成功分析，6例（30%）显示12三体。我们能够对常规制备的和先前瑞氏染色的外周血涂片进行分析。我们的结论是，荧光原位杂交是一种简单的手段检测三体12在CLL。该技术比传统的细胞遗传学分析更敏感，将是临床研究的有用工具。
Trisomy 12 is the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL), and a number of studies have suggested that it may be an adverse prognostic indicator. We have evaluated the usefulness of fluorescence in situ hybridization with a chromosome 12-specific probe as a simple means for detecting trisomy 12 in interphase cells. Forty cases of B-cell CLL previously studied with conventional cytogenetic techniques were analyzed with a biotinylated probe to the centromeric region of chromosome 12. Thirty of these retrospective cases could be reevaluated with in situ hybridization. Our analysis showed three hybridization signals (ie, trisomy 12) in interphase cells from seven of seven cases found previously to have trisomy 12. Trisomy 12 was also detected in five additional cases: in one case thought to have a normal karyotype, in two cases that had been inadequate for routine cytogenetic analysis, and in two cases that had been found to have an abnormal karyotype without trisomy 12. In a prospective series of 20 newly accrued CLL cases, all cases were analyzed successfully by in situ hybridization and six (30%) showed trisomy 12. We were able to perform the analysis on routinely prepared and previously Wright-stained peripheral blood smears. We conclude that fluorescence in situ hybridization is a simple means for the detection of trisomy 12 in CLL. The technique is more sensitive than conventional cytogenetic analysis and would be a useful tool in clinical studies.