Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
| Autor: | Marzia Di Pietro Paolo, Veronica Agostinelli, Rossana Berardi, Francesca Bianchi, Alberto Murrone, Alessandra Mandolesi, Francesca Morgese, Elena Maccaroni, Zelmira Ballatore, Riccardo Giampieri, C. Brugiati, Edoardo Lenci, Silvia Pagliaretta, L. Belvederesi, Paola Mazzanti, Marina Scarpelli, Valeria Cognigni |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty medicine.medical_treatment Cancer therapy 03 medical and health sciences 0302 clinical medicine lynch syndrome Internal medicine medicine Tumor type microsatellite instability-high Lung cancer neoplasms non-small cell lung cancer business.industry Tumor therapy Immunotherapy medicine.disease RC31-1245 digestive system diseases Lynch syndrome 030104 developmental biology 030220 oncology & carcinogenesis Treatment strategy immunotherapy pembrolizumab business |
| Zdroj: | Exploration of Targeted Anti-tumor Therapy, Vol 2, Iss 3 (2021) |
| ISSN: | 2692-3114 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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