Lung cancer as a predominant feature in a patient with Peutz –Jeghers syndrome: Case report

Peutz –Jeghers syndrome is a rare syndrome associated with loss-of-functionSTK11 variants and is one of the few reasons for hereditary predisposition to lung cancer. Prompt identification ofSTK11 carriers can provide options for targeted therapies. AbstractPeutz –Jeghers syndrome (PJS) is characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis, which can lead to intussusception. PJS patients face high lifetime risks for various cancer types, with the majority of patients being diagnosed with tumors along the gastrointestin al tract. Herein, we present the case of a 34-year-old man who carried a germlineSTK11 pathogenic variant, while lacking the cardinal features of PJS syndrome. Interestingly, he was diagnosed with lung adenocarcinoma despite being a never-smoker. Tumor testing revealed clinically relevant molecular alterations, including the known germline pathogenic variantSTK11, aKRAS somatic pathogenic variant, andFGFR3 gene amplification. Treatment with standard chemotherapy and immunotherapy did not have a clinical benefit. Due to clinical deterioration, the patient deceased 18  months after his initial diagnosis prior to having the chance for targeted therapy. Identification of rare hereditary cancer syndromes and the respective presence of tumor biomarkers can provide important alternatives to targeted treatments, including immunotherapy in patients with tumors unrespo nsive to conventional treatment protocols. This case highlig...
Source: Thoracic Cancer - Category: Cancer & Oncology Authors: Tags: CASE REPORT Source Type: research