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Título : Cutaneous carcinosarcoma: further insights into its mutational landscape through massive parallel genome sequencing
Autor : Paniz-Mondolfi, Alberto
Singh, Rajesh
Jour, George
Mahmoodi, Mandana
Diwan, A. Hafeez
Barkoh, Bedia A.
Cason, Ronald
Huttenbach, Yve
Benaím, Gustavo
Galbincea, John
Luthra, Rajyalakshmi
Palabras clave : Carcinosarcoma
Next-generation sequencing
Stem cells
Fecha de publicación : 2014
Editorial : Virchows Arch
Citación : Vol. 465;No. 3 pp 339-350.
Resumen : 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 cancerassociated 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.
Descripción : A. Paniz-Mondolfi : A. H. Diwan : Y. Huttenbach Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA A. Paniz-Mondolfi (*) Departments of Biochemistry and Dermatopathology, Fundación Jacinto Convit (SAIB/IVSS) & Universidad de Los Andes (ULA), Caracas/Mérida, Venezuela e-mail: R. Singh : B. A. Barkoh : R. Cason : J. Galbincea : R. Luthra Molecular Diagnostics Laboratory, The University of Texas MD Anderson Cancer Center, Houston, TX, USA G. Jour Department of Anatomic Pathology, University of Washington Medical Center, Seattle, WA, USA M. Mahmoodi Department of Dermatopathology, Miraca Life Sciences Research Institute & Tufts University School of Medicine, Boston, MA, USA.
ISSN : 1432-2307 (Electronic)
0945-6317 (Linking)
0945-6317 (Print)
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