Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.

Breast cancer (BC) is the most prevalent cancer in women. While usually detected when localized, invasive procedures are still required for diagnosis. Herein, we developed a novel ultrasensitive pipeline to detect circulating tumor DNA (ctDNA) in a series of 75 plasma samples from localized BC patients prior to any medical intervention.

Detection of and Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis.

Circulating tumor DNA (ctDNA) has emerged as a non-invasive "liquid biopsy" for early breast cancer diagnosis. We evaluated the suitability of ctDNA analysis in the diagnosis of early breast cancer after mammography findings, comparing and mutations between tumor biopsies and pre-biopsy circulating DNA. Matched plasma and frozen fresh tissue biopsies from patients with Breast Imaging-Reporting and Data System (BIRADS) 4c/5 mammography findings and subsequent diagnosis of primary breast cancer were analyzed using NGS TruSeq Custom Amplicon Low Input Panel (Illumina) and plasma SafeSEQ (Sysmex Inostics).

[Renal pseudoaneurysm and arteriovenous fistula: color doppler study of a post-lithotripsy simple cyst].

Objectives: To describe the clinical and radiological (color doppler ultrasound, CT scan and arteriography) features of a case of renal arteriovenous malformation type mixed fistula with pseudoaneurysm in a female patient after extracorporeal shock wave lithotripsy.

Methods/results: We report one case of secondary vascular malformation in a 54-year-old female patient who underwent extracorporeal shockwave lithotripsy, presenting as recurrent hematuria. Ultrasound detected a "cystic" formation newly appeared after lithotripsy, being the diagnostic made by a color doppler study which showed a mixed high speed arteriovenous turbulent flow.