Diagnosis of lung cancer has previously been based on the evaluation of resection specimen. However, approximately 80% of lung cancers are diagnosed in stage IV. Targeted therapy has changed the practice of pathology. Diagnosis is usually based on small biopsies or even needle aspirations. Subtyping is important, as a molecular classification has to be added.

Molecular analysis has to be done in adenocarcinomas and on some of the rarer carcinoma types. Molecular analysis of squamous cell carcinomas should be done in never or former smokers, as they might present with targetable oncogenes. The same applies for adenosquamous carcinomas. Both high-grade neuroendocrine carcinomas should be subtyped. These subtypes might become relevant for new treatment options, currently investigated. Subtyping is done by immunohistochemistry with antibodies for ASCL1, NeuroD1, and POU2F3. In carcinoids, molecular investigation can better define cases with a higher risk of recurrence and metastasis.

Diagnosis of lung cancer is most often done on small biopsies or cytological preparations. Only a minimal number of tissues or cellular material is used for diagnosis. A considerable portion is reserved for molecular analysis. Molecular investigation is important in adenocarcinomas, but also for other rare tumor types.