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Squamousness: Next-generation sequencing reveals shared molecular features across squamous tumor types
Maria Schwaederle1, Sheryl K Elkin, Brett N Tomson
1a Center for Personalized Cancer Therapy; University of California San Diego Moores Cancer Center ; La Jolla , CA USA.
Cell Cycle (Georgetown, Tex.)
|June 2, 2015
Summary
Squamous cell carcinoma (SCC) shares common molecular alterations across different organs, including frequent TP53 and PIK3CA mutations. Identifying these "squamousness" gene signatures may guide targeted therapies for SCC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Squamous cell carcinoma (SCC) is a common cancer type with diverse origins.
- Understanding shared molecular drivers across different SCCs is crucial for developing effective treatments.
Purpose of the Study:
- To identify common molecular alterations in SCC regardless of organ of origin.
- To define a molecular signature for "squamousness" in cancer.
Main Methods:
- Targeted next-generation sequencing (NGS) was performed on 361 SCC samples.
- Comparison of genetic alterations in SCC cohort versus a non-SCC cohort (N=277).
- Multivariable co-alteration analysis to identify SCC subgroups.
Main Results:
- TP53 (64.5%), PIK3CA (28.5%), CDKN2A (24.4%), SOX2 (17.7%), and CCND1 (15.8%) were the most frequent alterations in SCC.
- CDKN2A, SOX2, NOTCH1, TP53, PIK3CA, CCND1, and FBXW7 were significantly more frequent in SCC than non-SCC.
- A distinct "squamousness" gene signature was identified, characterized by specific gene alterations and absence of KRAS alterations.
- Two SCC subgroups were identified based on co-alterations in TP53, PIK3CA, and cyclin pathway genes.
Conclusions:
- A set of 8 genes with significantly different alteration frequencies distinguishes SCC from non-SCC histologies.
- These findings suggest conserved molecular patterns contributing to "squamousness."
- Targeting the PI3K-AKT-mTOR and/or cyclin pathways may be a promising therapeutic strategy for SCC.
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