Clinical History & Chronological Summary
- Presentation: 31-year-old female with symptoms suggestive of right upper lobe lung involvement; PET-CT showed a RUL mass with lymphadenopathy and suspicious breast parenchymal uptake, raising concern for metastasis.
- Diagnosis: Biopsy of the right supraclavicular lymph node confirmed metastatic poorly differentiated carcinoma consistent with a
lung primary; IHC showed TTF-1 and Napsin A positivity, supporting lung adenocarcinoma. - Further evaluation: Comprehensive tissue-based NGS profiling (OncoIndx, OneCell Diagnostics) was performed on FFPE tissue
from the right supraclavicular lymph node to identify actionable molecular alterations and inform targeted therapy selection.
Clinical Challenges
- Metastatic disease with nodal and possible distant involvement limited surgical options, necessitating systemic therapy.
- Multiple candidate mutations required precision profiling to define dominant oncogenic drivers and guide selection between targeted and immune-based therapies.
- PD-L1 expression (TPS 50%) indicated checkpoint inhibitor sensitivity, but concurrent ALK-EML4 fusion prioritized targeted ALK inhibition as per guidelines.
- Need for longitudinal monitoring using liquid biopsy to detect resistance evolution.