TY  - JOUR
T1  - Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type
A1  - Maccaroni, Elena
A1  - Lenci, Edoardo
A1  - Agostinelli, Veronica
A1  - Cognigni, Valeria
A1  - Mazzanti, Paola
A1  - Di, Marzia
A1  - Paolo, Pietro
A1  - Bianchi, Francesca
A1  - Belvederesi, Laura
A1  - Pagliaretta, Silvia
A1  - Mandolesi, Alessandra
A1  - Murrone, Alberto
A1  - Morgese, Francesca
A1  - Ballatore, Zelmira
A1  - Berardi, Rossana
Y1  - 2021///
KW  - Lynch syndrome
KW  - immunotherapy
KW  - non-small cell lung cancer
KW  - microsatellite instability-high
KW  - pembrolizumab
JF  - Exploration of Targeted Anti-tumor Therapy
VL  - 2
SP  - 240
EP  - 248
DO  - 10.37349/etat.2021.00044
UR  - https://www.explorationpub.com/Journals/etat/Article/100244
N2  - 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.
ER  -