International journal of molecular sciences, 2020-10, Vol.21 (19), p.7188
2020
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- Autor(en) / Beteiligte
- Titel
- An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach
- Ist Teil von
- International journal of molecular sciences, 2020-10, Vol.21 (19), p.7188
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2020
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Since 2016, our hospital has applied tumor testing with immunohistochemistry (IHC) in endometrial cancer in order to detect mutations of mismatch repair genes (MMR). All cases with MMR deficiency proteins expression are sent for genetic testing, except those with protein deficiency, in which case genetic testing is performed if negative for promoter hypermethylation. The primary aim of this study was to investigate the ability of our algorithm to identify Lynch syndrome (LS). The Secondary aims were to investigate the relationship between MMR status and clinicopathological features and prognosis of primary endometrial cancer (EC). From January 2016 to December 2018, 239 patients with EC were retrospectively analyzed and subdivided according to MMR status. Patients were divided in three groups: MMR proficient, LS and Lynch-like cancer (LLC). LS was characterized by a lower age and BMI, more use of contraceptive and less use of hormonal replacement therapy, nulliparity and a trend versus a better prognosis. LLC appeared more related to MMR proficient than LS and exhibited a more aggressive behavior. Our multidisciplinary approach permitted a correct diagnosis of germline mutation in patients with newly diagnosis EC and it confirmed clinicopathologic and prognostic characteristics of LS.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1422-0067, 1661-6596eISSN: 1422-0067DOI: 10.3390/ijms21197188Titel-ID: cdi_doaj_primary_oai_doaj_org_article_497c4133203c4c5ab0c16e2bc9e31a48
- Format
- –
- Schlagworte
- Adult, Biomarkers, Tumor - genetics, Cancer, Cancer therapies, Colorectal cancer, Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis, Colorectal Neoplasms, Hereditary Nonpolyposis - genetics, Colorectal Neoplasms, Hereditary Nonpolyposis - pathology, Contraceptives, Diagnosis, DNA Methylation - genetics, DNA Mismatch Repair - genetics, DNA repair, DNA-Binding Proteins - genetics, Early Detection of Cancer, Endometrial cancer, Endometrial Neoplasms - diagnosis, Endometrial Neoplasms - genetics, Endometrial Neoplasms - pathology, Endometrium, Family medical history, Female, Genes, Genetic counseling, Genetic disorders, Genetic Predisposition to Disease, Genetic screening, Germ-Line Mutation - genetics, Hormone replacement therapy, Humans, Immunohistochemistry, Lynch syndrome, Lynch syndrome associated tumors, Lynch-like cancers, Medical prognosis, Microsatellite Instability, Middle Aged, Mismatch repair, mismatch repair genes, MLH1 protein, Mutation, MutL Protein Homolog 1 - genetics, Observations, Pathology, Patients, Prognosis, Promoter Regions, Genetic - genetics, Protein deficiency, Protein expression, Proteins, Repair, Tumors