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腺样囊性癌(ACC)高分级转化型与实体型的遗传学特征。

Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type.

机构信息

Department of Pathology, University of Campinas/UNICAMP, Brazil.

出版信息

Cell Oncol (Dordr). 2011 Aug;34(4):369-79. doi: 10.1007/s13402-011-0037-5. Epub 2011 May 4.

DOI:10.1007/s13402-011-0037-5
PMID:21541734
Abstract

BACKGROUND

ACC can occasionally undergo dedifferentiation also referred to as high-grade transformation (ACC-HGT). However, ACC-HGT can also undergo transformation to adenocarcinomas which are not poorly differentiated. ACC-HGT is generally considered to be an aggressive variant of ACC, even more than solid ACC. This study was aimed to describe the genetic changes of ACC-HGT in relation to clinico-pathological features, and to compare results to solid ACC.

METHODS

Genome wide DNA copy number changes were analyzed by microarray CGH in ACC-HGT, four with transformation into moderately differentiated adenocarcinoma (MDA) and two into poorly differentiated carcinoma (PDC), and five solid ACC. In addition, Ki67 index and p53 immunopositivity was assessed.

RESULTS

ACC-HGT carried fewer copy number changes compared to solid ACC. Two ACC-HGT cases harboured a breakpoint at 6q23, near the cMYB oncogene. The complexity of the genomic profile concurred with the clinical course of the patient. Among the ACC-HGT, p53 positivity significantly increased from the conventional to the transformed (both MDA and PDC) component.

CONCLUSION

ACC-HGT may not necessarily reflect a more advanced stage of tumor progression, but rather a transformation to another histological form in which the poorly differentiated forms (PDC) presents a genetic complexity similar to the solid ACC.

摘要

背景

ACC 偶尔会发生去分化,也称为高级别转化(ACC-HGT)。然而,ACC-HGT 也可能转化为非低分化的腺癌。ACC-HGT 通常被认为是 ACC 的侵袭性变异型,甚至比实体型 ACC 更具侵袭性。本研究旨在描述 ACC-HGT 的遗传变化与临床病理特征的关系,并将结果与实体型 ACC 进行比较。

方法

通过微阵列 CGH 分析 ACC-HGT、4 例转化为中度分化腺癌(MDA)和 2 例转化为低分化癌(PDC)以及 5 例实体型 ACC 的全基因组 DNA 拷贝数变化。此外,评估了 Ki67 指数和 p53 免疫阳性率。

结果

与实体型 ACC 相比,ACC-HGT 的拷贝数变化较少。2 例 ACC-HGT 病例在 6q23 附近存在断点,靠近 cMYB 癌基因。基因组图谱的复杂性与患者的临床病程相符。在 ACC-HGT 中,p53 阳性率从常规成分到转化成分(MDA 和 PDC)显著增加。

结论

ACC-HGT 不一定反映肿瘤进展的更晚期阶段,而是向另一种组织学形式的转化,其中低分化形式(PDC)具有与实体型 ACC 相似的遗传复杂性。

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