Scarpa A, Taruscio D, Scardoni M, Iosi F, Paradisi S, Ennas M G, Rigaud G, Moore P S, Menestrina F
Istituto di Anatomia Patologica, Università di Verona, Strada Le Grazie, Verona, Italy.
Genes Chromosomes Cancer. 1999 Nov;26(3):203-9.
We used arbitrarily primed polymerase chain reaction (AP-PCR) fingerprinting to identify chromosomal imbalances in six primary mediastinal B-cell lymphomas (PMBLs). Seventy-four chromosomal imbalances were detected, consisting of 49 sequence gains and 25 losses. Amplifications on chromosome X were seen in five cases, four of which involved the same chromosomal locus. Nonrandom gains at the same locus were also identified on chromosomes 2 and 7 in four cases and on chromosomes 5, 9, and 12 in three cases. Five PMBLs were also analyzed by comparative genomic hybridization (CGH), which found chromosome arm 9p amplification as the only nonrandom imbalance. Our data demonstrate that chromosomal amplifications outnumber losses in PMBL. These mainly involve chromosomes 9 and X and may reflect more complex phenomena, such as translocations or other chromosomal rearrangements, as AP-PCR found coexistent gains and losses on these chromosomes. Comparison between AP-PCR and CGH suggests that anomalies affecting the same chromosomal regions may occur at much higher frequencies than expected by CGH, suggesting that genomic amplifications are usually confined to DNA segments smaller than the megabase long segments required for detection in CGH. Modest increases in genetic material may be as effective as higher-level amplifications when affecting sites where a proto-oncogene resides.
我们采用任意引物聚合酶链反应(AP-PCR)指纹图谱技术来识别6例原发性纵隔B细胞淋巴瘤(PMBL)中的染色体失衡情况。共检测到74处染色体失衡,其中包括49处序列增加和25处缺失。5例病例中观察到X染色体的扩增,其中4例涉及相同的染色体位点。4例病例中还在2号和7号染色体上以及3例病例中在5号、9号和12号染色体上鉴定到相同位点的非随机增加。还对5例PMBL进行了比较基因组杂交(CGH)分析,结果发现9p染色体臂扩增是唯一的非随机失衡。我们的数据表明,PMBL中染色体扩增的数量超过缺失。这些主要涉及9号和X染色体,可能反映了更复杂的现象,如易位或其他染色体重排,因为AP-PCR发现这些染色体上同时存在增加和缺失。AP-PCR与CGH之间的比较表明,影响相同染色体区域的异常出现频率可能比CGH预期的要高得多,这表明基因组扩增通常局限于小于CGH检测所需的兆碱基长片段的DNA片段。当影响原癌基因所在位点时,遗传物质的适度增加可能与高水平扩增一样有效。