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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Open Exploration
2021
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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. |
format | Online Article Text |
id | pubmed-9400785 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Open Exploration |
record_format | MEDLINE/PubMed |
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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