RESUMEN
Circulating tumor DNA (ctDNA) is increasingly employed in the screening, follow-up, and monitoring of the continuously evolving tumor; however, most ctDNA assays validated for clinical use cannot maintain the right balance between sensitivity, coverage, sample requirements, time, and cost. Here, we report our BC-monitor, a simple, well-balanced ctDNA diagnostic approach using a gene panel significant in breast cancer and an optimized multiplex PCR-based NGS protocol capable of identifying allele variant frequencies below 1% in cell-free plasma DNA. We monitored a cohort of 45 breast cancer patients prospectively enrolled into our study receiving neoadjuvant chemotherapy or endocrine therapy or palliative therapy for metastatic diseases. Their tumor mutation status was examined in the archived tumor samples and plasma samples collected before and continuously during therapy. Traceable mutations of the used 38-plex NGS assay were found in approximately two-thirds of the patients. Importantly, we detected new pathogenic variants in follow-up plasma samples that were not detected in the primary tumor and baseline plasma samples. We proved that the BC-monitor can pre-indicate disease progression four-six months earlier than conventional methods. Our study highlights the need for well-designed ctDNA monitoring during treatment and follow-up, integrated into a real-time treatment assessment, which could provide information on the active tumor DNA released into the blood.
RESUMEN
The cutaneous angiotropic lymphoma has a poor prognosis. The diagnosis and the treatment are usually late. The mortality rate is over 80% and the majority of patients die within a year because of the tumorous infiltration of parenchymal organs. The authors report here the medical history and follow up of a still living patient suffering from cutaneous angiotropic lymphoma which has been diagnosed sixty months ago. During the successful treatment course systemic treatment with psoralen ultraviolet A-rays, chlorambucil and cyclophosphamide-doxorubicin-vincristine-methylprednisolone chemotherapy was applied, and for the management of the last relapse, rituximab-cyclophosphamide-doxorubicin-vincristine-methylprednisolone polychemotherapy was used. On the basis of findings in this case a treatment using an anti-CD20 monoclonal antibody could be a promising therapeutic alternative in the management of angiotropic B-cell lymphoma which otherwise considered to be a rare entity.