Saber UCV
Repositorio Institucional
Repositorio Institucional
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https://saber.ucv.ve/handle/10872/15680
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| Title: | Primary cutaneous carcinosarcoma: insights into its clonal origin and mutational pattern expression analysis through next generation sequencing |
| Authors: | Paniz Mondolfi, Alberto E. Jour, George Johnson, Matthew Reidy, Jason Cason, Ronald C. Barkoh, Bedia A. Benaím, Gustavo Singh, Rajesh Luthra, Raja |
| Keywords: | Carcinosarcoma Cutaneous Biphenotypic tumors Cancer stem cells Tumorigenesis Mutation TP53 Next generation sequencing biphenotypic neoplasm |
| Issue Date: | 6-Nov-2013 |
| Publisher: | Human Pathology |
| Series/Report no.: | Vol. 44;No. 12 pp. 2853-2860 |
| Abstract: | Primary cutaneous carcinosarcoma is a rare biphenotypic neoplasm exhibiting both epithelial and sarcomatous elements. Even though its origin and biological aspects remain poorly understood, it has been postulated that this tumor may arise from progenitor cells which subsequently differentiate into distinct tumor components. We have investigated the histological and immunohistochemical staining patterns of a cutaneous carcinosarcoma case, as well as its ultrastructural aspects. In addition, sarcomatous and epithelial tumor components were separated by laser capture microdissection and subjected to targeted, high-depth, Next-Generation Sequencing of a 46-cancer gene panel to asses the gene mutational pattern amongst both components. There were transitional cells at the epithelial/ mesenchymal transition which labeled with putative progenitor cell markers (K 19, c-kit, CD34 and BCL-2). There was shared reactivity to antibodies directed against the progenitor cell marker EpCAM (epithelial cell adhesion molecule) in both components. Ultrastructurally, individual cells were demonstrated to have overlapping features of epithelial and mesenchymal differentiation. The mutational analysis revealed point mutations in exon 5 of TP53 which were identical in both the epithelial and sarcomatous components, and which was concordant with p53 expression at a tissue level. The aforementioned histological, ultrastructural, immunohistochemical and mutational pattern is strongly suggestive of a common clonal origin to the distinct elements of this tumor. |
| Description: | Corresponding author. Baylor College of Medicine, Department of Pathology and Immunology, Texas Children's Hospital. Houston, TX 77030, USA. E-mail address: albertopanizm@gmail.com (A. E. Paniz Mondolfi). |
| URI: | http://hdl.handle.net/10872/15680 |
| ISSN: | 0046-8177 |
| Appears in Collections: | Artículos Publicados |
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