Dataset Information

Genetic screening in young women diagnosed with endometrial cancer.

ABSTRACT:

Objective

To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer.

Methods

From 2007 to 2014, 41 patients affected from endometrial cancer and aged less than 50 years underwent surgery at the Complex Operative Unit of Gynecology and Obstetrics, Cannizzaro Hospital of Catania, Italy. They were selected to undergo mismatch repair gene mutation analysis using immunohistochemistry (IHC; four markers: MLH1, MSH2, MSH6, PMS2) and microsatellite instability (MSI) test. For samples that resulted negative to IHC (abnormal finding), MSI test was performed to further study the suspected mutation. Samples were classified as MSI-high (MSI-H) if more than one marker was identified as unstable; MSI-low (MSI-L) if only one marker was identified as unstable; or MSI-stable (MSI-S) if no marker was identified as unstable. Samples were subdivided into two groups: MSI-H/L and MSI-S. Statistical analysis was performed to assess differences regarding survival, tumor staging, grading, and invasion of lymphovascular space between these two groups.

Results

IHC analysis showed that in 46% (19/41) of samples there was negative outcome. Forty-two percent (8/19) of these negative samples were unstable (either low or high). Of eight patients showing MSI, 75% were MSI-L, while 25% were MSI-H. Differences in survival, stage, grade, lymphovascular space invasion and Amsterdam criteria adherence were not statistically significant due to the small size of the cohort.

Conclusion

IHC and MSI test results of our cohort lead us to assess the relevance of performing Lynch syndrome genetic screening in endometrial cancer patients aged less than 50 years at the time of diagnosis.

SUBMITTER: Pecorino B

PROVIDER: S-EPMC5165072 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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Publications

Genetic screening in young women diagnosed with endometrial cancer.

Pecorino Basilio B Rubino Cinzia C Guardalà Vito Fabio VF Galia Antonio A Scollo Paolo P

Journal of gynecologic oncology 20160901 1

<h4>Objective</h4>To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer.<h4>Methods</h4>From 2007 to 2014, 41 patients affected from endometrial cancer and aged less than 50 years underwent surgery at the Complex Operative Unit of Gynecology and Obstetrics, Cannizzaro Hospital of Catania, Italy. They were selected to undergo mismatch repair gene mutation analysis using immunohistochemistry (IHC; four marker ...[more]

PMID: 27670258

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Dataset Information

Genetic screening in young women diagnosed with endometrial cancer.

Objective

Methods

Results

Conclusion

Publications

Genetic screening in young women diagnosed with endometrial cancer.

Similar Datasets

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