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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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Detalles Bibliográficos
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
Descripción
Sumario: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.