Jass Jeremy R
McGill University, Montreal, Quebec, Canada.
Dis Markers. 2004;20(4-5):215-24. doi: 10.1155/2004/197484.
The aim of this paper is to indicate how the pathologist may suspect a diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) on the basis of histological criteria and patient age alone. A single morphological feature, namely the presence of intra-epithelial lymphocytes (tumor infiltrating lymphocytes), identifies the majority of colorectal cancers (CRC) with the DNA microsatellite instability-high phenotype. A number of pathological criteria can help to distinguish HNPCC from sporadic MSI-H CRC, though age below 60 years is an important pointer towards HNPCC. Immunohistochemistry to demonstrate loss of expression of DNA mismatch repair genes serves as a highly reliable test of mismatch repair deficiency if antibodies to hMLH1, hMSH2, hMSH6 and hPMS2 are employed.
本文旨在指出病理学家如何仅凭组织学标准和患者年龄就怀疑遗传性非息肉病性结直肠癌（HNPCC）的诊断。单一的形态学特征，即上皮内淋巴细胞（肿瘤浸润淋巴细胞）的存在，可识别出大多数具有DNA微卫星高度不稳定表型的结直肠癌（CRC）。一些病理标准有助于将HNPCC与散发性微卫星高度不稳定（MSI-H）CRC区分开来，不过60岁以下的年龄是指向HNPCC的一个重要指标。如果使用针对hMLH1、hMSH2、hMSH6和hPMS2的抗体，通过免疫组织化学来证明DNA错配修复基因表达缺失可作为错配修复缺陷的高度可靠检测方法。
