Concordance analysis between liquid biopsy (ctDNA) and tumor DNA molecular profiles from panel-based next-generation sequencing.

INTRODUCTION: Analysis of circulating tumor DNA (ctDNA), also known as liquid biopsy, has been postulated to be a useful test in the prognostication, molecular profiling, and monitoring of cancer patients. In this series we aimed to analyze the concordance between the mutation status of formalin-fixed paraffin-embedded (FFPE) tumor samples and matched ctDNA, considering tumor molecular profiling as the gold standard technique. METHODS: This retrospective study included cancer patients with complete diagnostics and gene mutations detected in a previous FFPE tumor tissue Next-Generation Sequencing (NGS) study with a matched frozen plasma sample available for an NGS ctDNA assay. RESULTS AND DISCUSSION: Sixty patients were included, 24 with colorectal carcinoma (CRC) and 36 with non-small cell lung cancer (NSCLC). In 27.1% of ctDNA studies a new mutation not previously detected in the matched tumor was found. 11.9% of these ctDNA results had the potential to impact clinical management. Globally, the concordance rate between FFPE tumor samples and ctDNA was 44.4%. When tumors were stratified by stage, the concordance was 76.5%, 70%, 36.4%, and 0% in tumor stages IV, III, II, and I, respectively. ctDNA molecular profiles showed a good concordance rate in advanced stage tumors and identified undetected mutations in tumor tissues. In early tumor stages the concordance was low, casting doubt on the usefulness of ctDNA in these patients.

Concordance analysis between liquid biopsy (ctDNA) and tumor DNA molecular profiles from panel-based next-generation sequencing

Introduction: Analysis of circulating tumor DNA (ctDNA), also known as liquid biopsy, has been postulated to be a useful test in the prognostication, molecular profiling, and monitoring of cancer patients. In this series we aimed to analyze the concordance between the mutation status of formalin-fixed paraffin-embedded (FFPE) tumor samples and matched ctDNA, considering tumor molecular profiling as the gold standard technique. Methods: This retrospective study included cancer patients with complete diagnostics and gene mutations detected in a previous FFPE tumor tissue Next-Generation Sequencing (NGS) study with a matched frozen plasma sample available for an NGS ctDNA assay. Results and discussion: Sixty patients were included, 24 with colorectal carcinoma (CRC) and 36 with non-small cell lung cancer (NSCLC). In 27.1% of ctDNA studies a new mutation not previously detected in the matched tumor was found. 11.9% of these ctDNA results had the potential to impact clinical management. Globally, the concordance rate between FFPE tumor samples and ctDNA was 44.4%. When tumors were stratified by stage, the concordance was 76.5%, 70%, 36.4%, and 0% in tumor stages IV, III, II, and I, respectively. ctDNA molecular profiles showed a good concordance rate in advanced stage tumors and identified undetected mutations in tumor tissues. In early tumor stages the concordance was low, casting doubt on the usefulness of ctDNA in these patients.(AU)

Introducción: Se ha postulado que el análisis de ADN tumoral circulante (ctDNA), conocido también como biopsia líquida, es una prueba útil a la hora de pronosticar, elaborar el perfilado molecular, y supervisar a los pacientes de cáncer. En esta serie nuestro objetivo fue analizar la concordancia entre el estatus mutacional de las muestras tumorales (formalin-fixed paraffin-embedded) y el ctDNA equiparado, considerando el perfilado molecular del tumor la técnica de referencia. Métodos: Este estudio retrospectivo incluyó pacientes de cáncer con diagnóstico completo y mutaciones genéticas detectadas en un estudio anterior de NGS de tejido tumoral formalin-fixed paraffin-embedded con una muestra equiparada de plasma congelado disponible para un ensayo ctDNA mediante NGS. Resultados y discusión: Incluimos sesenta pacientes: 24 con cáncer colorrectal y 36 con cáncer de pulmón de células no pequeñas (NSCLC). En el 27,1% de los estudios de ctDNA se encontró una nueva mutación no detectada previamente en el tumor equiparado. El 11,9% de dichos resultados de ctDNA tenía potencial de repercutir en el manejo clínico. A nivel global, la tasa de concordancia entre las muestras tumorales formalin-fixed paraffin-embedded y ctDNA fue del 44,4%. Al estratificar los tumores por estadio, la concordancia fue del 76,5%, 70%, 36,4%, y 0% para los estadios tumorales IV, III, II, y I, respectivamente. Los perfiles moleculares de ctDNA reflejaron una buena tasa de concordancia en tumores de estadio avanzado, e identificaron mutaciones no detectadas en los tejidos tumorales. En los estadios tumorales tempranos la concordancia fue baja, planteando dudas sobre la utilidad de ctDNA en dichos pacientes.(AU)

Syncope and facial blushing due to giant intrapulmonary bronchogenic cyst.

A 43-year-old man presented with dizziness, head instability, and facial reddening, always in relation to body posture and without fever or systemic manifestations. Chest radiography revealed a large cavity with an air-fluid level in the right upper hemithorax. A right upper lobectomy was performed to remove a large bronchogenic cyst. The presentation with cardiac but no respiratory symptoms is uncommon but should be considered in the differential diagnosis of patients with intrathoracic cysts.

Rotura traqueal yatrogénica por intubación orotraqueal / Iatrogenic tracheal rupture after endotracheal intubation

Las laceraciones traqueobronquiales traumáticas postintubación son una complicación clínica poco frecuente en la práctica diaria. Se han relacionado con intentos repetitivos de intubación e hiperinsuflación del balón, así como con alteraciones anatómicas y factores individuales que puedan predisponerla. El diagnóstico se obtiene, actualmente, mediante la endoscopia respiratoria, ya que informa sobre su localización y la extensión lesional. Presentamos el caso de una paciente con laceración de la cara posterior traqueal secundaria a intubación endotraqueal que comenzó con enfisema mediastínico subcutáneo y neumotórax bilateral en el postoperatorio inmediato. El diagnóstico se realizó mediante fibrobroncoscopia y tomografía computarizada y requirió cirugía traqueal de urgencia (AU)

Tracheobronchial rupture after tracheal intubation is rare in clinical practice. Possible contributory factors are multiple vigorous attempts at intubation, overinflation of the cuff, anatomic alterations, and predisposing individual factors. These lesions can be detected by bronchoscopy, which is the most effec-tive method to confirm the diagnosis and determine the exact location and extent of the tear. We report the case of a woman with membranous tracheal rupture after endotracheal intubation. Subcutaneous emphysema, pneumomediastinum and bilateral pneumothorax were noted after extubation. The diagnosis was confirmed by fiberoptic bronchoscopy and computed tomography scan, and the patient required emergency surgical repair (AU)

[Iatrogenic tracheal rupture after endotracheal intubation]. / Rotura traqueal yatrogénica por intubación orotraqueal.

Tracheobronchial rupture after tracheal intubation is rare in clinical practice. Possible contributory factors are multiple vigorous attempts at intubation, overinflation of the cuff, anatomic alterations, and predisposing individual factors. These lesions can be detected by bronchoscopy, which is the most effective method to confirm the diagnosis and determine the exact location and extent of the tear. We report the case of a woman with membranous tracheal rupture after endotracheal intubation. Subcutaneous emphysema, pneumomediastinum and bilateral pneumothorax were noted after extubation. The diagnosis was confirmed by fiberoptic bronchoscopy and computed tomography scan, and the patient required emergency surgical repair.