2023 World Conference on Lung Cancer (Posters)-P1.22. Molecular Profiling Reveals Distinct Clinical and Genomic Features as Potential Therapeutic Targets in Pulmonary Spindle Cell Carcinoma

P1.22. Molecular Profiling Reveals Distinct Clinical and Genomic Features as Potential Therapeutic Targets in Pulmonary Spindle Cell Carcinoma - PDF(Abstract)

Back to course

Pdf Summary

Pulmonary spindle cell carcinoma (PSCC) is a rare and aggressive subtype of lung cancer with poor prognosis. Due to its rarity, there is limited knowledge about the molecular characteristics of PSCC, which hinders diagnosis and treatment. In this study, the authors analyzed the genetic profile of 22 treatment-naïve PSCC tumors using next-generation sequencing. They found frequent genetic alterations in genes such as TP53, MET, TERT, CDKN2A/B, RB1, LRP1B, and FAT1. They also observed a higher mutation frequency in genes like KRAS, ARID2, FOXL2, and LRP1B in PSCC patients with a high tumor mutation burden (TMB). Pathway enrichment analysis revealed that mutations in the RTK/RAS and DNA mismatch repair deficiency pathway were associated with a higher TMB, while patients with CDKN2A variants had a lower TMB. Three PSCC patients were found to have germline mutations in TP53 and RECQL4 genes, highlighting the importance of screening for germline mutations in assessing cancer risk. The authors also observed a high concordance of variant detection between baseline tumors and plasma samples, but copy number variants (CNVs) were only detected in tumor samples. Based on their findings, the authors suggest that combined immunotherapy and chemotherapy may be a promising treatment option for PSCC patients with a high TMB and positive expression of programmed death-ligand 1. Overall, this study enhances our understanding of the biology of PSCC and may lead to improved diagnosis and tailored treatment for this rare form of lung cancer.

Asset Subtitle

Yang Shao

Meta Tag

Speaker Yang Shao

Topic Pathology & Biomarkers: Genetic Biomarkers

Keywords

Pulmonary spindle cell carcinoma

lung cancer

rare subtype

aggressive

poor prognosis

genetic profile

tumor mutation burden

germline mutations

copy number variants

immunotherapy