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

Autor:	Maccaroni E; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Lenci E; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Agostinelli V; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Cognigni V; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Giampieri R; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy.; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Mazzanti P; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Di Pietro Paolo M; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Bianchi F; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Brugiati C; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Belvederesi L; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Pagliaretta S; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Mandolesi A; SOD Anatomia Patologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Università Politecnica delle Marche, 60126 Ancona, Italy., Scarpelli M; SOD Anatomia Patologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Università Politecnica delle Marche, 60126 Ancona, Italy., Murrone A; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy., Morgese F; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Ballatore Z; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy., Berardi R; Clinica Oncologica, Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I G M Lancisi G Salesi, 60126 Ancona, Italy.; Medical Oncology Unit, Università Politecnica delle Marche, 60126 Ancona, Italy.
Jazyk:	angličtina
Zdroj:	Exploration of targeted anti-tumor therapy [Explor Target Antitumor Ther] 2021; Vol. 2 (3), pp. 240-248. Date of Electronic Publication: 2021 Jun 28.
DOI:	10.37349/etat.2021.00044
Abstrakt:	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. Competing Interests: The authors declare that they have no conflicts of interest. (© The Author(s) 2021.)
Databáze:	MEDLINE
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