Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

The application to clinical practice of liquid biopsy in patients with lung cancer has led to an advance in the diagnosis and monitoring of the disease. Detection of alterations in EGFR genes related to TKI treatment in EGFR-mutated non-small cell lung cancer patients is a routine method in pathology laboratories. The primary objective of this work was to analyze the presence of EGFR mutations in cfDNA of 86 patients with lung cancer undergoing oncological treatment related to response to treatment with TKIs. Secondarily, we evaluated the dynamics of EGFR mutations, the presence of the T790M alteration and its relationship with drug resistance and analyzed by NGS molecular alterations in cfDNA of patients with discordant progression. Our results demonstrate that understanding the mutational status of patients treated with TKIs over time is essential to monitor disease progression. In this context, liquid biopsy is a fundamental key. In addition, it is not only necessary to detect EGFR mutations, but also other concomitant mutations that would be influencing the development of the disease. In this sense, we have discovered that mutations in the NF1 tumor suppressor gene could be exerting an as yet unknown function in lung cancer.

Tumor de células gigantes tenosinovial condroide de articulación temporomandibular. Presentación de un caso / Chondroid tenosynovial giant cell tumour of the temporomandibular joint: A case report

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Respuesta: Respuesta a: Estudio comparativo de la ecografía Doppler frente a la biopsia de arteria temporal en el diagnóstico de la arteritis de células gigantes / Reply: Response to: A Comparative study of doppler ultrasound against temporal artery biopsy in the diagnosis of giant cell arteritis

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Estudio comparativo de la ecografía Doppler frente a la biopsia de arteria temporal en el diagnóstico de la arteritis de células gigantes / A comparative study of doppler ultrasound against temporal artery biopsy in the diagnosis of giant cell arteritis

INTRODUCCIÓN: La arteritis de células gigantes (ACG) es una vasculitis que afecta a arterias de mediano y gran calibre. La biopsia de la arteria temporal es la técnica diagnóstica de elección. Atendiendo a la demanda asistencial que supone, pretendemos evaluar la utilidad de la ecografía Doppler en los pacientes con sospecha de ACG, su sensibilidad y especificidad como prueba diagnóstica y si puede suplir a la biopsia. MATERIALES Y MÉTODOS: Se ha realizado un estudio prospectivo de 57 pacientes entre febrero de 2015 y julio de 2016, que han sido diagnosticados con exploración mediante ecografía Doppler y biopsia de arteria temporal. RESULTADOS: Fueron incluidos 57 pacientes, de los cuales 3 fallecieron durante el seguimiento y una paciente fue excluida del estudio al negarse a la biopsia. Otros 21 pacientes fueron diagnosticados de ACG por un especialista reumatólogo tras un mínimo de 6 meses de seguimiento. Presentaron ecografía positiva 22 pacientes, de los cuales 8 fueron diagnosticados de ACG y 4 de polimialgia reumática. En nuestro estudio, la sensibilidad de la ecografía es del 42,6% y la especificidad es del 65,7%. Otros 19 pacientes presentaron biopsia positiva: todos ellos fueron diagnosticados de ACG. La biopsia presentó una sensibilidad de un 73,7% y una especificidad de un 100%. CONCLUSIONES: Según nuestro estudio, la utilidad de la ecografía es limitada y son necesarias nuevas investigaciones para determinar su papel en esta entidad

BACKGROUND: Giant cell arteritis (GCA) is a vasculitis that affects medium- and large-sized arteries. Temporal artery biopsy is the gold standard for diagnosis. In view of the high demand for temporal biopsies, the purpose of this study is to evaluate the usefulness of Doppler ultrasonography in patients with suspected giant cell arteritis, to determine its sensitivity and specificity as a diagnostic test and to determine whether it would be possible to substitute biopsy for ultrasonography. MATERIALS AND METHODS: A prospective study was undertaken including 57 patients from February 2015 to July 2016, who have undergone both ultrasonography and temporal biopsy. RESULTS: A total of 57 patients were included, 3of whom died during the follow-up, and a patient was excluded from the study when she refused to have the biopsy. Another 21 patients were diagnosed with GCA by a rheumatologist after a minimum of 6 months of follow-up and 22 patients had positive ultrasonography, 8 of whom were diagnosed with GCA and 4 with polymyalgia rheumatica. In our study, the sensitivity of ultrasonography was 42.6%, and the specificity was 65.7%. A total of 19 patients had a positive biopsy, all of them were diagnosed with GCA. In our study, the sensitivity of the biopsy was 73.7% and the specificity was 100%. CONCLUSIONS: In view of the data from our study, the usefulness of ultrasonography is questionable, and research about the role of ultrasonography in this disease should be further studied

A Comparative Study of Doppler Ultrasound against Temporal Artery Biopsy in the Diagnosis of Giant Cell Arteritis. / Estudio comparativo de la ecografía Doppler frente a la biopsia de arteria temporal en el diagnóstico de la arteritis de células gigantes.

BACKGROUND: Giant cell arteritis (GCA) is a vasculitis that affects medium- and large-sized arteries. Temporal artery biopsy is the gold standard for diagnosis. In view of the high demand for temporal biopsies, the purpose of this study is to evaluate the usefulness of Doppler ultrasonography in patients with suspected giant cell arteritis, to determine its sensitivity and specificity as a diagnostic test and to determine whether it would be possible to substitute biopsy for ultrasonography. MATERIALS AND METHODS: A prospective study was undertaken including 57 patients from February 2015 to July 2016, who have undergone both ultrasonography and temporal biopsy. RESULTS: A total of 57 patients were included, 3of whom died during the follow-up, and a patient was excluded from the study when she refused to have the biopsy. Another 21 patients were diagnosed with GCA by a rheumatologist after a minimum of 6 months of follow-up and 22 patients had positive ultrasonography, 8 of whom were diagnosed with GCA and 4 with polymyalgia rheumatica. In our study, the sensitivity of ultrasonography was 42.6%, and the specificity was 65.7%. A total of 19 patients had a positive biopsy, all of them were diagnosed with GCA. In our study, the sensitivity of the biopsy was 73.7% and the specificity was 100%. CONCLUSIONS: In view of the data from our study, the usefulness of ultrasonography is questionable, and research about the role of ultrasonography in this disease should be further studied.