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Clinical Prognostic Factors and Integrated Multi-Omics Studies Identify Potential Novel Therapeutic Targets for Pediatric Desmoid Tumor.
- Source :
-
Biological Procedures Online . 12/20/2022, Vol. 24 Issue 1, p1-14. 14p. - Publication Year :
- 2022
-
Abstract
- Background: Desmoid tumor (DT), also known as desmoid-type fibromatosis (DTF) or aggressive fibromatosis (AF) is a rare mesenchymal tumor affecting both children and adults. It is non-metastasis but infiltrative, growing with a high recurrence rate to even cause serious health problems. This study investigates the biology of desmoid tumors through integrated multi-omics studies. Methods: We systematically investigated the clinical data of 98 extra-abdominal cases in our pediatric institute and identified some critical clinical prognostic factors. Moreover, our integrated multi-omics studies (Whole Exome Sequencing, RNA sequencing, and untargeted metabolomics profiling) in the paired PDT tumor/matched normal tissues identified more novel mutations, and potential prognostic markers and therapeutic targets for PDTs. Results: The top mutation genes, such as CTNNB1 (p.T41A and p.S45F) and MUC4 (p.T3775T, p.S3450S, etc.), were observed with a mutation in more than 40% of PDT patients. We also identified a panel of genes that are classed as the FDA-approved drug targets or Wnt/β-catenin signaling pathway-related genes. The integrated analysis identified pathways and key genes/metabolites that may be important for developing potential treatment of PDTs. We also successfully established six primary PDT cell lines for future studies. Conclusions: These studies may promote the development of novel drugs and therapeutic strategies for PDTs. [ABSTRACT FROM AUTHOR]
- Subjects :
- *DESMOID tumors
*PROGNOSIS
*DRUG target
*RNA sequencing
*DRUG development
Subjects
Details
- Language :
- English
- ISSN :
- 14809222
- Volume :
- 24
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Biological Procedures Online
- Publication Type :
- Academic Journal
- Accession number :
- 160892463
- Full Text :
- https://doi.org/10.1186/s12575-022-00180-0