Moore Patrick S, Missiaglia Edoardo, Beghelli Stefania, Bragantini Emma, Mina Maria M, Zamboni Giuseppe, Falconi Massimo, Scarpa Aldo
Dipartimento di Patologia-Sezione di Anatomia Patologica, Università di Verona, Strada Le Grazie, 37134 Verona, Italy.
J Cancer Res Clin Oncol. 2004 Jun;130(6):339-45. doi: 10.1007/s00432-004-0549-8. Epub 2004 Mar 16.
To determine the genetic differences/similarities in ampulla of Vater cancers (AVC) with respect to other pancreatic tumor types.
We analyzed eight cases of primary AVC by genome-wide allelotyping on DNA obtained from frozen tissue. A total of 372 microsatellite loci were used for each case, for a total of 2,976 microsatellites analyzed.
Of the 2,159 informative markers, 400 were allelic losses and 1,759 markers were retained for an average fractional allelic loss of 0.19. Seven cases showed LOH on at least two markers on chromosomal arm 11p, while six cases showed allelic losses on 11q. The high frequency of LOH on chromosome 11 was also confirmed by analysis of an additional 17 paraffin-embedded AVC. Frequent LOH (50% or greater) was also found on chromosome arms 5q, 6q, 9p, 13, 16p, 17p, and 18p.
It can be inferred that the targets of inactivation on chromosomes 5q, 9p, and 17p appear to be APC, p16, and p53, respectively, while the critical target(s) of inactivation at the other frequently lost loci remain to be characterized. The resulting allelotype reveals that distinctive chromosomal alterations are present in these neoplasms, indicating that it is a tumor entity distinct from pancreatic adenocarcinoma.
确定 Vater 壶腹癌（AVC）与其他胰腺肿瘤类型在基因方面的差异/相似性。
我们对从冷冻组织获取的 DNA 进行全基因组等位基因分型，分析了 8 例原发性 AVC。每例使用总共 372 个微卫星位点，共分析了 2976 个微卫星。
在 2159 个信息性标记中，400 个存在等位基因缺失，1759 个标记保留，平均等位基因缺失率为 0.19。7 例在染色体臂 11p 上至少两个标记出现杂合性缺失（LOH），而 6 例在 11q 上出现等位基因缺失。对另外 17 例石蜡包埋的 AVC 进行分析也证实了 11 号染色体上 LOH 的高频率。在染色体臂 5q、6q、9p、13、16p、17p 和 18p 上也发现了频繁的 LOH（50%或更高）。
可以推断，5q、9p 和 17p 染色体上的失活靶点似乎分别是 APC、p16 和 p53，而其他频繁缺失位点的关键失活靶点仍有待确定。所得的等位基因型显示这些肿瘤中存在独特的染色体改变，表明它是一种与胰腺腺癌不同的肿瘤实体。
