AI Article Synopsis
- - The study focuses on congenital mesoblastic nephroma (CMN) and its genetic characteristics, comparing it with related soft tissue tumors of infancy.
- - A significant discovery includes a recurrent mutation in the EGFR gene specific to CMN, helping to differentiate it from other pediatric kidney tumors.
- - The research also identifies intragenic rearrangements in the BRAF gene in both CMN and infantile fibrosarcoma (IFS), suggesting new diagnostic markers and potential treatments for these tumors.
Article Abstract
Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006309 | PMC |
| http://dx.doi.org/10.1038/s41467-018-04650-6 | DOI Listing |
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