DNA Mismatch Repair Deficiency in Ampullary Carcinoma A Morphologic and Immunohistochemical Study of 54 Cases

被引:31
作者
Agaram, Narasimhan P. [1 ]
Shia, Jinru [1 ]
Tang, Laura H. [1 ]
Klimstra, David S. [1 ]
机构
[1] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA
关键词
Hereditary nonpolyposis colorectal cancer; Lynch syndrome; Immunohistochemistry; Microsatellite instability (high frequency) histology; NONPOLYPOSIS COLORECTAL-CANCER; MICROSATELLITE INSTABILITY; MULTIPLEX ASSAY; MUTATION; FEATURES; PAPILLA; UTILITY; VATER; RISK; GENE;
D O I
10.1309/AJCPGDDE8PLLDRCC
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
The significance of DNA mismatch repair (MMR) deficiency or microsatellite instability (MSI) in ampullary carcinomas remains to be defined. This study evaluated the MMR status in 54 consecutive ampullary adenocarcinomas by immunohistochemical and morphologic studies. All tumors were moderately (n = 49) or poorly (n = 5) differentiated, with 7 mucinous and 1 signet-ring cell type. Tumor-infiltrating lymphocytes (TILs) were noted in 36 tumors. Loss of MMR protein by immunohistochemical analysis was identified in 3 (6%), 2 lost MSH6, and 1 lost MLH1/PMS2. One MSH6 case had 3 metachronous colorectal cancers. Five TILs per 10 high-power fields predicted immunohistochemical abnormality in 2 of 3 tumors with a specificity of 80% (41/51); however, none of the 5 tumors that had the highest TIL counts (20-62/10 high-power fields) showed abnormal immunohistochemical results. Thus, MMR deficiency occurs in ampullary carcinoma but appears less frequent than in colorectal carcinoma (CRC). Typical MSI-high histologic features of CRC, such as increased TIL counts, seem to have similar yet subtly different implications in ampullary carcinoma.
引用
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页码:772 / 780
页数:9
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