ABSTRACT
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. We first performed a tumor-informed analysis to correlate the mutations found in tumor tissue and plasma. Disregarding the tumor data next, we developed an approach to detect tumor mutations in plasma. We observed a mutation concordance between the tumor and plasma of 29.50% with a sensitivity down to 0.03% in mutant variant allele frequency (VAF). We detected mutations in 33.78% of the samples, identifying eight patients with plasma-only mutations. Altogether, we determined a specificity of 86.36% and a positive predictive value of 88.46% for BC detection. We demonstrated an association between higher ctDNA median VAF and higher tumor grade, multiple plasma mutations with a likelihood of relapse and more frequent TP53 plasma mutations in hormone receptor-negative tumors. Overall, we have developed a unique ultra-sensitive sequencing workflow with a technology not previously employed in early BC, paving the way for its application in BC screening.
Subject(s)
Breast Neoplasms , Circulating Tumor DNA , Humans , Female , Circulating Tumor DNA/genetics , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Neoplasm Recurrence, Local/genetics , Mutation , Biomarkers, Tumor/genetics , High-Throughput Nucleotide Sequencing/methodsABSTRACT
La filariasis es una enfermedad parasitaria benigna poco frecuente en los países occidentales, sobre todo la afectación mamaria es inusual. Sin embargo, aumenta la frecuencia de casos de filariasis mamaria en nuestro medio debido a las corrientes migratorias y el turismo a zonas endémicas. Nuestro objetivo es incidir en el manejo diagnóstico y terapéutico de la filariasis mamaria a propósito de un caso clínico
Filariasis is a benign parasitic disease that is unusual in western countries, especially filariasis of the breast. However, cases of breast filariasis are increasing in our environment due to greater immigration and tourism to endemic areas. We report a case of breast filariasis to describe the diagnostic and therapeutic management of this disease
Subject(s)
Humans , Female , Middle Aged , Filariasis/diagnosis , Breast Diseases/parasitology , Filarioidea/isolation & purification , Mastodynia/etiology , Diagnosis, DifferentialABSTRACT
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