: 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.

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. - In: EXPLORATION OF TARGETED ANTI-TUMOR THERAPY. - ISSN 2692-3114. - ELETTRONICO. - 2:3(2021), pp. 240-248. [10.37349/etat.2021.00044]

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

Maccaroni, Elena
Conceptualization
;
Lenci, Edoardo
Investigation
;
Agostinelli, Veronica
Investigation
;
Cognigni, Valeria
Investigation
;
Giampieri, Riccardo
Investigation
;
Mazzanti, Paola
Investigation
;
Di Pietro Paolo, Marzia
Investigation
;
Bianchi, Francesca
Data Curation
;
Brugiati, Cristiana
Data Curation
;
Belvederesi, Laura
Data Curation
;
Pagliaretta, Silvia
Data Curation
;
Mandolesi, Alessandra
Formal Analysis
;
Scarpelli, Marina
Supervision
;
Murrone, Alberto
Investigation
;
Morgese, Francesca
Investigation
;
Ballatore, Zelmira
Investigation
;
Berardi, Rossana
Supervision
2021-01-01

Abstract

: 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.
2021
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11566/315290
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