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High-resolution array CGH and gene expression profiling of alveolar soft part sarcoma
Shamini Selvarajah1, Saumyadipta Pyne, Eleanor Chen
1Authors' Affiliations: Department of Pathology, Brigham and Women's Hospital, Harvard Medical School; Center for Molecular Oncologic Pathology, Dana-Farber Cancer Institute; Massachusetts General Hospital, Boston, Massachusetts; Carver College of Medicine, University of Iowa, Iowa City, Iowa; and Department of Pathology, St. James's Hospital, Dublin, Ireland.
Alveolar soft part sarcoma (ASPS) pathogenesis involves transcriptional deregulation from fusion genes. This study suggests a potential neural differentiation pathway for ASPS, highlighting PAX6 upregulation.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma with a poor prognosis.
- Limited molecular data exists regarding the origin, initiation, and progression of ASPS.
Purpose of the Study:
- To identify candidate molecular pathways involved in ASPS pathogenesis.
- To elucidate the genomic and expression signatures of primary and metastatic ASPS.
Main Methods:
- Utilized high-throughput array comparative genomic hybridization (aCGH) and cDNA-mediated assays.
- Employed integrative bioinformatics for pathway analysis.
- Confirmed the ASPL-TFE3 fusion using FISH analysis.
Main Results:
- Identified the ASPL-TFE3 fusion in all analyzed ASPS cases.
- Gene expression analysis revealed 1,063 differentially expressed genes between primary and metastatic tumors.
- Enriched gene sets indicated pathways related to stem cell signatures and differentiation, with notable PAX6 upregulation.
Conclusions:
- Suggests a potential neural differentiation pathway in ASPS.
- Implicates transcriptional deregulation driven by fusion genes in ASPS pathogenesis.
