Title |
Cutaneous carcinosarcoma: further insights into its mutational landscape through massive parallel genome sequencing
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Published in |
Virchows Archiv, July 2014
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DOI | 10.1007/s00428-014-1628-0 |
Pubmed ID | |
Authors |
Alberto Paniz-Mondolfi, Rajesh Singh, George Jour, Mandana Mahmoodi, A. Hafeez Diwan, Bedia A. Barkoh, Ronald Cason, Yve Huttenbach, Gustavo Benaim, John Galbincea, Rajyalakshmi Luthra |
Abstract |
Cutaneous carcinosarcoma (CCS) is an extraordinarily rare neoplasm with a biphasic morphological pattern exhibiting both epithelial and sarcomatoid components. Although its histogenesis and biological aspects remain poorly understood, previous studies have postulated that this tumor may arise from single cancer stem cells which subsequently differentiate into distinct tumor lineages. In this study, we explored a wide array of mutational hot spot regions, through high-depth next-generation sequencing of 47 cancer-associated genes in order to assess the mutational landscape of these tumors and investigate whether the epithelial and mesenchymal components shared the same genetic signatures. Results from this study confirm that despite their striking phenotypic differences, both elements of this infrequent tumor indeed share a common clonal origin. Additionally, CCS appears to embrace a heterogeneous spectrum with specific underlying molecular signatures correlating with the defining epithelial morphotype, with those carcinosarcomas exhibiting a squamous cell carcinoma epithelial component exhibiting diverse point mutations and deletions in the TP53 gene, and those with a basal cell carcinoma morphotype revealing a more complex mutational landscape involving several genes. Also, the fact that our findings involve several targetable gene pathways suggests that the underlying molecular events driving the pathogenesis of CCS may represent future potential targets for personalized therapies. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
Belgium | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Japan | 1 | 3% |
Unknown | 31 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 7 | 22% |
Student > Master | 5 | 16% |
Student > Bachelor | 4 | 13% |
Professor | 4 | 13% |
Student > Doctoral Student | 3 | 9% |
Other | 4 | 13% |
Unknown | 5 | 16% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 15 | 47% |
Biochemistry, Genetics and Molecular Biology | 8 | 25% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Agricultural and Biological Sciences | 1 | 3% |
Nursing and Health Professions | 1 | 3% |
Other | 0 | 0% |
Unknown | 6 | 19% |