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Volume 21
Issue 19
10.3390/ijms21197188
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Article

An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach

by
Giulia Dondi
1,2,†,
Sara Coluccelli
1,2,3,†,
Antonio De Leo
2,4,†,
Simona Ferrari
5,
Elisa Gruppioni
6,
Alessandro Bovicelli
1,
Lea Godino
5,
Camelia Alexandra Coadă
3,
Alessio Giuseppe Morganti
2,7,
Antonio Giordano
8,9,
Donatella Santini
2,10,
Claudio Ceccarelli
2,4,
Daniela Turchetti
2,5,
Pierandrea De Iaco
1,2 and
Anna Myriam Perrone
1,2,*
1
Gynecologic Oncology Unit, Azienda Ospedaliero-Universitaria Policlinico di Sant’Orsola, 40138 Bologna, Italy
2
Centro di Studio e Ricerca delle Neoplasie Ginecologiche (CSR), University of Bologna, 40138 Bologna, Italy
3
Center for Applied Biomedical Research, Alma Mater Studiorum-University of Bologna, 40138 Bologna, Italy
4
Molecular Diagnostic Unit, Azienda USL Bologna, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy
5
Unit of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico di Sant’Orsola, University of Bologna, 40138 Bologna, Italy
6
Laboratory of Oncologic and Transplantation Molecular Pathology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy
7
Radiation Oncology Center, Azienda Ospedaliero-Universitaria Policlinico di Sant’Orsola, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, 40138 Bologna, Italy
8
Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA 19122, USA
9
Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy
10
Pathology Unit Azienda Ospedaliero-Universitaria Policlinico di Sant’Orsola, 40138 Bologna, Italy
*
Author to whom correspondence should be addressed.
†
These authors contribution equally to this work.
Int. J. Mol. Sci. 2020, 21(19), 7188; https://doi.org/10.3390/ijms21197188
Received: 9 September 2020 / Revised: 25 September 2020 / Accepted: 26 September 2020 / Published: 29 September 2020
(This article belongs to the Special Issue Genes, Environment and Cancer)
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Abstract

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 MLH1 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. View Full-Text
Keywords: endometrial cancer; Lynch syndrome; mismatch repair genes; Lynch-like cancers; microsatellite instability; Lynch syndrome associated tumors endometrial cancer; Lynch syndrome; mismatch repair genes; Lynch-like cancers; microsatellite instability; Lynch syndrome associated tumors
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
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MDPI and ACS Style

Dondi, G.; Coluccelli, S.; De Leo, A.; Ferrari, S.; Gruppioni, E.; Bovicelli, A.; Godino, L.; Coadă, C.A.; Morganti, A.G.; Giordano, A.; Santini, D.; Ceccarelli, C.; Turchetti, D.; De Iaco, P.; Perrone, A.M. An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach. Int. J. Mol. Sci. 2020, 21, 7188. https://doi.org/10.3390/ijms21197188

AMA Style

Dondi G, Coluccelli S, De Leo A, Ferrari S, Gruppioni E, Bovicelli A, Godino L, Coadă CA, Morganti AG, Giordano A, Santini D, Ceccarelli C, Turchetti D, De Iaco P, Perrone AM. An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach. International Journal of Molecular Sciences. 2020; 21(19):7188. https://doi.org/10.3390/ijms21197188

Chicago/Turabian Style

Dondi, Giulia, Sara Coluccelli, Antonio De Leo, Simona Ferrari, Elisa Gruppioni, Alessandro Bovicelli, Lea Godino, Camelia A. Coadă, Alessio G. Morganti, Antonio Giordano, Donatella Santini, Claudio Ceccarelli, Daniela Turchetti, Pierandrea De Iaco, and Anna M. Perrone. 2020. "An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach" International Journal of Molecular Sciences 21, no. 19: 7188. https://doi.org/10.3390/ijms21197188

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