Maiques Oscar, Cuevas Dolors, García Dios Diego Andrés, Coenegrachts Lieve, Santacana Maria, Velasco Ana, Romero Marta, Sónia Gatius, Lambrechts Diether, Dolcet Xavier, Amant Frederic, Matias-Guiu Xavier
Histopathology. 2014 Sep;65(3):371-88. doi: 10.1111/his.12396.
To check the usefulness of a standardized protocol of PTEN FISH in 31 endometrial carcinomas (ECs) in comparison with SNP array (SNPA), multiplex ligation-dependent probe amplification (MLPA), and immunohistochemistry.
Fluorescence in-situ hybridization analysis showed two PTEN copies in 17 cases, three copies in nine cases, hemizygous deletion in two cases, and diverse cell populations with different PTEN copy number in three cases. A good correlation was seen between FISH and SNPA, particularly in cases with three copies. FISH identified two cases with entire deletion of chromosome 10, but did not identify a focal deletion of PTEN. Five cases with PTEN deletion and duplication of the second allele by SNPA were interpreted as normal by FISH. Concordance between FISH and MLPA was seen in 15 cases with two copies, and in two cases with PTEN deletion. Six cases were interpreted as amplified by MLPA, but showed polyploidy by FISH. FISH was superior to SNPA and MLPA in assessing the tumours with diverse cell populations with different PTEN copies.
The results show good concordance between FISH, SNPA and MLPA. SNPA was superior in tumours with deletion of one copy and duplication of the second allele. FISH was superior in assessing tumour heterogeneity.
与单核苷酸多态性阵列（SNPA）、多重连接依赖探针扩增技术（MLPA）及免疫组化相比，检测PTEN荧光原位杂交（FISH）标准化方案在31例子宫内膜癌（EC）中的实用性。
荧光原位杂交分析显示，17例患者有两个PTEN拷贝，9例有三个拷贝，2例半合子缺失，3例存在不同PTEN拷贝数的不同细胞群。FISH与SNPA之间具有良好的相关性，尤其是在有三个拷贝的病例中。FISH检测到2例10号染色体完全缺失，但未检测到PTEN的局灶性缺失。SNPA检测到5例PTEN缺失及第二个等位基因重复的病例，FISH结果显示为正常。FISH与MLPA在15例有两个拷贝的病例以及2例PTEN缺失的病例中结果一致。MLPA检测到6例扩增，但FISH显示为多倍体。在评估具有不同PTEN拷贝数的不同细胞群的肿瘤时，FISH优于SNPA和MLPA。
结果显示FISH、SNPA和MLPA之间具有良好的一致性。在一个拷贝缺失及第二个等位基因重复的肿瘤中，SNPA更具优势。在评估肿瘤异质性方面，FISH更具优势。
