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SGO criteria identified small number of Lynch Syndrome cases in endometrial cancer
The Society of Gynecologic Oncology 2007 criteria successfully identified probable Lynch syndrome cases among young women with endometrial cancer who have significant family history of signature tumors, but the screening strategy did not detect a significant proportion of probable Lynch syndrome patients who are older and have less significant family history, according to study results.
“Universal tumor testing of endometrial carcinomas is a cost-effective alternative that detects more individuals at elevated risk, providing more opportunity for cancer prevention among these women and their families,” Amanda S. Bruegl, MD, of the department of gynecologic oncology and reproductive medicine at The University of Texas MD Anderson Cancer Center, and colleagues wrote.
The SGO 2007 criteria have not previously been validated in a population-based setting. For this reason, Bruegl and colleagues assessed immunohistochemical expression of DNA mismatch repair proteins and MLH1 methylation in 412 unselected endometrial cancers in order to classify tumors as sporadic or probable Lynch syndrome.
Based upon tumor testing, 10.5% of patients had probable Lynch syndrome. SGO criteria demonstrated a 32.6% (95% CI, 19.2-48.5) sensitivity and 77% specificity (95% CI, 72.7-81.8).
A multivariate analysis of clinical features, family history and pathologic variables did not identify significant differences between sporadic and probable Lynch syndrome groups, according to study results. Conversely, tumor location in the lower uterine segment did identify significant differences between those with sporadic and probable Lynch syndrome.
Results of a simplified cost-effectiveness analysis indicated the total cost for 97 women recommended for further evaluation through tissue testing and genetic counseling was $91,455. Of these 97 cases, 15 were identified as probable Lynch syndrome by tissue testing. The total cost per probable Lynch syndrome case detected in the SGO model was $6,097.
“A major conclusion from this work is that the existing SGO 5% to 10% clinical criteria for identifying endometrial cancer patients with Lynch syndrome misses most patients who could be captured by universal tissue testing (immunohistochemistry for DNA mismatch repair proteins and PCR-based MLH1 methylation analysis for tumors with loss of MLH1),” Bruegl and colleagues wrote.
Disclosure:The study was funded by the NIH.