Colorectal carcinomas with isolated loss of PMS2 staining by immunohistochemistry

Lindsay Alpert, Reetesh K. Pai, Amitabh Srivastava, Wendy McKinnon, Rebecca Wilcox, Rhonda K. Yantiss, Ramir Arcega, Hanlin L. Wang, Marie E. Robert, Xiuli Liu, Rish K. Pai, Lei Zhao, Maria Westerhoff, Heather Hampel, Sonia Kupfer, Namrata Setia, Shu Yuan Xiao, John Hart, Wendy L. Frankel

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Context.-Isolated loss of PMS2 staining is an uncommon immunophenotype in colorectal carcinomas, accounting for approximately 4% of tumors with microsatellite instability. Limited information regarding these tumors is available in the literature. Objective.-To compare the clinicopathologic features of colorectal carcinomas with isolated PMS2 loss by immunohistochemistry to those with other forms of mismatch repair deficiency. Design.-Ninety-three colorectal carcinomas with isolated PMS2 loss by immunohistochemistry and 193 with other forms of mismatch repair deficiency were identified. Forty (43%) of the isolated PMS2 loss cases and 35 control cases (18%) had a known germline mutation or a clinical diagnosis of Lynch syndrome. Results.-Overall, isolated PMS2-loss tumors occurred in significantly younger patients (P <.001) and in fewer female patients (P =.006). These tumors were significantly less likely to be right-sided (P =.001), high-grade (P =.01), or display histologic features of microsatellite instability (P <.001). The isolated PMS2-loss group also exhibited increased odds of disease-specific death (odds ratio [OR], 3.09; 95% CI, 1.41-6.85; P =.007). When the analysis was restricted to germline mutation/Lynch syndrome cases and controls, no significant differences were detected for age, sex, tumor location, tumor grade, histologic features, or distant metastases, although a trend toward increased odds of disease-specific death in the isolated PMS2-loss group was evident (OR, 3.87; 95% CI, 0.89-27.04; P =.10). Conclusions.-Unusual clinicopathologic features observed in colorectal carcinomas with isolated PMS2 loss are likely related to the high proportion of cases caused by germline mutations. Isolated PMS2-loss tumors may demonstrate more aggressive behavior than other tumors with microsatellite instability, but larger studies are needed to investigate that possibility further.

Original languageEnglish (US)
Pages (from-to)523-528
Number of pages6
JournalArchives of Pathology and Laboratory Medicine
Volume142
Issue number4
DOIs
StatePublished - Apr 2018

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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