Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma
Trilla-Fuertes, Lucía (Biomedica Molecular Medicine (Madrid))
Ghanem, Ismael (Hospital Universitario La Paz (Madrid))
Maurel, Joan (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
G-Pastrián, Laura (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Mendiola, Marta (Centro de Investigación Biomédica en Red de Cáncer)
Peña, Cristina (Hospital Universitario La Paz (Madrid))
López-Vacas, Rocío (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Prado-Vázquez, Guillermo (Biomedica Molecular Medicine (Madrid))
López-Camacho, Elena (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Zapater-Moros, Andrea (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Heredia Soto, Victoria (Hospital Universitario La Paz (Madrid))
Cuatrecasas, Miriam (Hospital Clínic i Provincial de Barcelona)
García-Alfonso, Pilar (Hospital General Universitario Gregorio Marañón)
Capdevila Castillón, Jaume (Vall d'Hebron Institut d'Oncologia)
Conill, Carles (Hospital Clínic i Provincial de Barcelona)
García-Carbonero, Rocío (Hospital Universitario 12 de Octubre (Madrid))
Heath, Karen E. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Ramos-Ruiz, Ricardo (Genomics Unit Cantoblanco, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain)
Llorens, Carlos (Biotechvana SL, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain)
Campos-Barros, Ángel (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Gámez-Pozo, Angelo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Feliu, Jaime (Universidad Autónoma de Madrid)
Vara, Juan Ángel Fresno (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)

Fecha:	2020
Resumen:	Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. We analyzed 46 paraffin-embedded tumor samples from patients diagnosed with primary ASCC by exome sequencing. A bioinformatics approach focused in the identification of high-impact genetic variants, which may act as drivers of oncogenesis, was performed. The relation between genetics variants and prognosis was also studied. The list of high-impact genetic variants was unique for each patient. However, the pathways in which these genes are involved are well-known hallmarks of cancer, such as angiogenesis or immune pathways. Additionally, we determined that genetic variants in BRCA2, ZNF750, FAM208B, ZNF599, and ZC3H13 genes are related with poor disease-free survival in ASCC. This may help to stratify the patient's prognosis and open new avenues for potential therapeutic intervention. In conclusion, sequencing of ASCC clinical samples appears an encouraging tool for the molecular portrait of this disease.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Publicado en:	Translational Oncology, Vol. 13 (may 2020) , ISSN 1936-5233

DOI: 10.1016/j.tranon.2020.100778
PMID: 32422573

8 p, 1.4 MB

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