Sistema de Salut de Catalunya
Institut Català de la Salut
[Trilla-Fuertes L] Biomedica Molecular Medicine SL, Madrid, Spain. [Gámez-Pozo A] Biomedica Molecular Medicine SL, Madrid, Spain. Molecular Oncology and Pathology Lab, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain. [Maurel J] Medical Oncology Department, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors Group, IDIBAPS, University of Barcelona, Barcelona, Spain. [Garcia-Carbonero R] Medical Oncology Department, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), UCM, CNIO, CIBERONC, Hospital Universitario 12 de Octubre, Madrid, Spain. [Capdevila J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [G-Pastrián L] Pathology Department, Hospital Universitario La Paz, Madrid, Spain. Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain
Vall d'Hebron Barcelona Hospital Campus
2021-11-24T09:08:33Z
2021-11-24T09:08:33Z
2021-04-01
Càncer; Genètica mèdica; Marcadors predictius
Cáncer; Genética Médica; Marcadores predictivos
Cancer; Medical genetics; Predictive markers
Squamous cell carcinoma is the most frequent histologic type of anal carcinoma. The standard of care since the 1970s has been a combination of 5-fluorouracil, mitomycin C, and radiotherapy. This treatment is very effective in T1/T2 tumors (achieving complete regression in 80–90% of tumors). However, in T3/T4 tumors, the 3-year relapse free survival rate is only 50%. The VITAL trial aimed to assess the efficacy and safety of panitumumab in combination with this standard treatment. In this study, 27 paraffin-embedded samples from the VITAL trial and 18 samples from patients from daily clinical practice were analyzed by whole-exome sequencing and the influence of the presence of genetic variants in the response to panitumumab was studied. Having a moderate- or high-impact genetic variant in PIK3CA seemed to be related to the response to panitumumab. Furthermore, copy number variants in FGFR3, GRB2 and JAK1 were also related to the response to panitumumab. These genetic alterations have also been studied in the cohort of patients from daily clinical practice (not treated with panitumumab) and they did not have a predictive value. Therefore, in this study, a collection of genetic alterations related to the response with panitumumab was described. These results could be useful for patient stratification in new anti-EGFR clinical trials.
LT-F is supported by the Spanish Economy and Competitiveness Ministry (DI-15-07614).
Article
Published version
English
Càncer - Anus - Tractament; Càncer - Anus - Aspectes genètics; DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms; Other subheadings::Other subheadings::Other subheadings::/drug therapy; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation; ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano; Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética
Nature Research
Scientific Reports;11
https://doi.org/10.1038/s41598-021-86966-w
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3440]
