Abstract:
Introduction: Lung cancer is primarily considered a disease of older adults with a history of smoking; however, there is a growing recognition of lung cancer occurring in younger, non-smoking individuals. A subset of these patients presents with driver mutations, such as anaplastic lymphoma kinase (ALK) rearrangements, which can significantly impact the approach to treatment and prognosis. ALK-positive non-small cell lung cancer (NSCLC) typically occurs in younger patients with minimal or no smoking history and often presents at an advanced stage due to the absence of specific symptoms. Early diagnosis in such populations remains challenging due to low clinical suspicion, highlighting the need for awareness and potential screening strategies even in non-traditional risk groups. This case report describes a rare presentation of ALK-positive NSCLC in a young, asymptomatic, non-smoking adult discovered during a routine health check.
Case Report: A 29-year-old female with no significant smoking history or notable family history of cancer presented for a routine health check. She reported no respiratory symptoms such as cough, hemoptysis, dyspnea, or weight loss. Physical examination and laboratory investigations were unremarkable. A routine chest X-ray, however, revealed a small solitary pulmonary nodule in the right upper lobe. Subsequent computed tomography (CT) of the chest confirmed a 2.5 cm spiculated lesion with no mediastinal lymphadenopathy or distant metastasis. A bronchoscopy with a biopsy of the lesion was performed, and histopathological analysis confirmed adenocarcinoma. Molecular testing, including fluorescence in situ hybridization (FISH), revealed an ALK gene rearrangement. The patient was staged as T1bN0M0 (Stage IA2) ALK-positive NSCLC.
Results: The diagnosis of ALK-positive NSCLC in a young, asymptomatic, non-smoking individual underscores the importance of considering lung cancer in non-traditional demographics. The patient was treated with an ALK inhibitor, alectinib, which is considered a first-line therapy for ALK-positive NSCLC. The patient showed a good response to therapy with a significant reduction in tumor size on follow-up imaging after three months. She remains asymptomatic and continues to be monitored regularly with no evidence of disease progression or recurrence at the 12-month follow-up. This case highlights the role of targeted therapy in the management of genetically driven lung cancers and emphasizes the importance of genetic profiling in all NSCLC patients, regardless of age or smoking history.
Conclusion: This case report illustrates a rare presentation of ALK-positive NSCLC in a young, asymptomatic, non-smoking patient, diagnosed incidentally during a routine health check. It highlights the need for heightened clinical awareness of lung cancer in younger populations without traditional risk factors and advocates for potential screening and early detection strategies in such demographics. Furthermore, the case underscores the pivotal role of molecular testing in guiding targeted therapies, which can significantly improve outcomes in patients with driver mutations like ALK rearrangements.
Audience Take Away Notes:
- Lung cancer can occur in young, non-smoking individuals and may present without symptoms, leading to delayed diagnosis.
- Routine imaging can incidentally identify lung cancer in asymptomatic patients, warranting further investigation and molecular profiling.
- ALK-positive NSCLC should be considered in younger patients with lung nodules, regardless of smoking history.
- Early identification of genetic mutations like ALK rearrangements can guide targeted therapy, significantly improving patient outcomes.
- There is a need for increased awareness and possibly tailored screening strategies for lung cancer in younger, low-risk populations.