Genetic screening in young women diagnosed with endometrial cancer / 부인종양
Journal of Gynecologic Oncology
;
: e4-2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-212864
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Imuno-Histoquímica
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Testes Genéticos
/
Programas de Rastreamento
/
Estudos de Coortes
/
Neoplasias do Endométrio
/
Diagnóstico
/
Instabilidade de Microssatélites
/
Reparo de Erro de Pareamento de DNA
/
Ginecologia
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
País/Região como assunto:
Europa
Idioma:
Inglês
Revista:
Journal of Gynecologic Oncology
Ano de publicação:
2017
Tipo de documento:
Artigo
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