Soon Patsy S H, Libe Rossella, Benn Diana E, Gill Anthony, Shaw Janet, Sywak Mark S, Groussin Lionel, Bertagna Xavier, Gicquel Christine, Bertherat Jerome, McDonald Kerrie L, Sidhu Stan B, Robinson Bruce G
Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, New South Wales, Australia.
Ann Surg. 2008 Jan;247(1):157-64. doi: 10.1097/SLA.0b013e318153ff55.
To determine the minimal common region of loss on 17p13 in a cohort of adrenocortical carcinomas (ACCs) (defined by a Weiss score > or =3) and adrenocortical adenomas (ACAs) (defined by a Weiss score <3) and subsequently to assess 3 genes in this region that could be involved in adrenocortical tumorigenesis.
Loss of heterozygosity (LOH) of 17p13 has been demonstrated to occur more frequently in ACCs compared with ACAs.
Using 12 microsatellite markers across 17p13, LOH analysis was performed on 37 paired blood and adrenocortical tumor samples (23 ACC and 14 ACA samples) to determine the minimal common region of loss for ACCs and ACAs. From this minimal region of loss, 3 genes were selected for quantitative real time reverse transcription polymerase chain reaction analysis on 20 ACCs and 30 ACAs.
LOH at 17p13 was found in 74% of ACCs compared with 14% of ACAs. There was a 10.4-Mb common minimal region of loss in ACCs whereas no minimal region of loss in ACAs could be demonstrated. Expression of Acyl coenzyme-A dehydrogenase very long chain (ACADVL) and Arachidonate 15-lipoxygenase second type (ALOX15B) was significantly down-regulated in ACCs compared with ACAs whereas there was no difference in expression of Potassium channel tetramerization domain containing 11 (KCTD11) in ACCs and ACAs.
We demonstrated a minimal common region of loss of 10.4-Mb on 17p13 in ACCs and within this region, we found that ACADVL and ALOX15B expression are good discriminators between ACCs and ACAs.
确定一组肾上腺皮质癌（ACC，定义为Weiss评分≥3）和肾上腺皮质腺瘤（ACA，定义为Weiss评分＜3）中17p13区域的最小共同缺失区域，随后评估该区域中可能参与肾上腺皮质肿瘤发生的3个基因。
与ACA相比，17p13杂合性缺失（LOH）在ACC中更频繁发生。
使用跨越17p13的12个微卫星标记，对37对血液和肾上腺皮质肿瘤样本（23个ACC样本和14个ACA样本）进行LOH分析，以确定ACC和ACA的最小共同缺失区域。从这个最小缺失区域中，选择3个基因对20个ACC和30个ACA进行定量实时逆转录聚合酶链反应分析。
74%的ACC中发现17p13存在LOH，而ACA中这一比例为14%。ACC中有一个10.4Mb的共同最小缺失区域，而ACA中未发现最小缺失区域。与ACA相比，ACC中酰基辅酶A脱氢酶超长链（ACADVL）和花生四烯酸15-脂氧合酶2型（ALOX15B）的表达显著下调，而ACC和ACA中含钾通道四聚化结构域11（KCTD11）的表达没有差异。
我们证明了ACC中17p13存在一个10.4Mb的最小共同缺失区域，在该区域内，我们发现ACADVL和ALOX15B的表达是区分ACC和ACA的良好指标。
