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
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.
Explor Target Antitumor Ther. 2021;2(3):240-248. doi: 10.37349/etat.2021.00044. Epub 2021 Jun 28.
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 gene and an intronic variant in the 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.
林奇综合征是一种遗传性癌症易感性综合征，由错配修复（MMR）基因的种系改变引起，导致患结肠癌以及其他癌症类型的风险增加。非小细胞肺癌（NSCLC）不属于典型的林奇综合征相关肿瘤：免疫检查点抑制剂帕博利珠单抗实际上已被批准用于治疗NSCLC患者，并且对于晚期转移性MMR缺陷型癌症患者而言，无论肿瘤起源如何，它都是一种有前景的治疗选择。本病例报告描述了一名74岁女性的临床表现和治疗情况，该女性有直肠腺癌和卵巢癌病史，其基因第8外显子存在一个有记录的移码致病变异，基因存在一个内含子变异（分类为意义未明的变异），并患有伴有脑转移的NSCLC。尽管存在这些情况，该患者接受了帕博利珠单抗治疗，但未从这种治疗中获益。
