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Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type

Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in mismatch repair (MMR) genes leading to increased risk of colon cancer as well as other cancer types. Non-small cell lung cancer (NSCLC) is not among typical Lynch syndrome-associated tumors: pembrolizumab...

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Autores principales: Maccaroni, Elena, Lenci, Edoardo, Agostinelli, Veronica, Cognigni, Valeria, Giampieri, Riccardo, Mazzanti, Paola, Di Pietro Paolo, Marzia, Bianchi, Francesca, Brugiati, Cristiana, Belvederesi, Laura, Pagliaretta, Silvia, Mandolesi, Alessandra, Scarpelli, Marina, Murrone, Alberto, Morgese, Francesca, Ballatore, Zelmira, Berardi, Rossana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Open Exploration 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9400785/
https://www.ncbi.nlm.nih.gov/pubmed/36046437
http://dx.doi.org/10.37349/etat.2021.00044
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author Maccaroni, Elena
Lenci, Edoardo
Agostinelli, Veronica
Cognigni, Valeria
Giampieri, Riccardo
Mazzanti, Paola
Di Pietro Paolo, Marzia
Bianchi, Francesca
Brugiati, Cristiana
Belvederesi, Laura
Pagliaretta, Silvia
Mandolesi, Alessandra
Scarpelli, Marina
Murrone, Alberto
Morgese, Francesca
Ballatore, Zelmira
Berardi, Rossana
author_facet Maccaroni, Elena
Lenci, Edoardo
Agostinelli, Veronica
Cognigni, Valeria
Giampieri, Riccardo
Mazzanti, Paola
Di Pietro Paolo, Marzia
Bianchi, Francesca
Brugiati, Cristiana
Belvederesi, Laura
Pagliaretta, Silvia
Mandolesi, Alessandra
Scarpelli, Marina
Murrone, Alberto
Morgese, Francesca
Ballatore, Zelmira
Berardi, Rossana
author_sort Maccaroni, Elena
collection PubMed
description Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in mismatch repair (MMR) genes leading to increased risk of colon cancer as well as other cancer types. Non-small cell lung cancer (NSCLC) is not among typical Lynch syndrome-associated tumors: pembrolizumab, an immune checkpoint inhibitor, is actually approved for the treatment of NSCLC patients and represents a promising treatment option for patients with advanced metastatic MMR-deficient cancer, regardless of tumor origin. This case report describes the clinical presentation and management of a 74-year-old female with a history of rectal adenocarcinoma and ovarian cancer, who has a documented frameshift pathogenic variant in the exon 8 of MSH6 gene and an intronic variant in the BRCA2 gene (classified as a variant of uncertain significance), affected by NSCLC with brain metastases. Despite these premises, the patient was treated with pembrolizumab and she did not benefit from this kind of treatment.
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spelling pubmed-94007852022-08-30 Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type Maccaroni, Elena Lenci, Edoardo Agostinelli, Veronica Cognigni, Valeria Giampieri, Riccardo Mazzanti, Paola Di Pietro Paolo, Marzia Bianchi, Francesca Brugiati, Cristiana Belvederesi, Laura Pagliaretta, Silvia Mandolesi, Alessandra Scarpelli, Marina Murrone, Alberto Morgese, Francesca Ballatore, Zelmira Berardi, Rossana Explor Target Antitumor Ther Case Report Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in mismatch repair (MMR) genes leading to increased risk of colon cancer as well as other cancer types. Non-small cell lung cancer (NSCLC) is not among typical Lynch syndrome-associated tumors: pembrolizumab, an immune checkpoint inhibitor, is actually approved for the treatment of NSCLC patients and represents a promising treatment option for patients with advanced metastatic MMR-deficient cancer, regardless of tumor origin. This case report describes the clinical presentation and management of a 74-year-old female with a history of rectal adenocarcinoma and ovarian cancer, who has a documented frameshift pathogenic variant in the exon 8 of MSH6 gene and an intronic variant in the BRCA2 gene (classified as a variant of uncertain significance), affected by NSCLC with brain metastases. Despite these premises, the patient was treated with pembrolizumab and she did not benefit from this kind of treatment. Open Exploration 2021 2021-06-28 /pmc/articles/PMC9400785/ /pubmed/36046437 http://dx.doi.org/10.37349/etat.2021.00044 Text en © The Author(s) 2021. https://creativecommons.org/licenses/by/4.0/This is an Open Access article licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Case Report
Maccaroni, Elena
Lenci, Edoardo
Agostinelli, Veronica
Cognigni, Valeria
Giampieri, Riccardo
Mazzanti, Paola
Di Pietro Paolo, Marzia
Bianchi, Francesca
Brugiati, Cristiana
Belvederesi, Laura
Pagliaretta, Silvia
Mandolesi, Alessandra
Scarpelli, Marina
Murrone, Alberto
Morgese, Francesca
Ballatore, Zelmira
Berardi, Rossana
Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title_full Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title_fullStr Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title_full_unstemmed Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title_short Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
title_sort lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9400785/
https://www.ncbi.nlm.nih.gov/pubmed/36046437
http://dx.doi.org/10.37349/etat.2021.00044
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