Genetic screening in young women diagnosed with endometrial cancer.
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.


CONCLUSIONS
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.
Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy. eliopek@gmail.com.
Basilio
http://orcid.org/0000-0001-6987-4193
B
Pecorino
Division of Gynecology and Obstetrics, Magati Hospital, Scandiano AUSL Reggio Emilia, Scandiano, Italy.
Cinzia
http://orcid.org/0000-0002-8107-9069
C
Rubino
Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy.
Vito Fabio
http://orcid.org/0000-0002-2433-7308
VF
Guardalà
Department of Pathology, Cannizzaro Hospital, Catania, Italy.
Antonio
http://orcid.org/0000-0002-2659-3487
A
Galia
Division of Gynecology and Obstetrics, Maternal and Child Department, Cannizzaro Hospital, Catania, Italy.
Paolo
http://orcid.org/0000-0001-6275-7488
P
Scollo
D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis*; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D011971:Receptors, Immunologic; D012189:Retrospective Studies
D014408:Biomarkers, Tumor; D011971:Receptors, Immunologic; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
Endometrial Neoplasms; Genetic Testing; Immunohistochemistry; Lynch Syndrome; Young Patients
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