Quantification of circulating DNA by real-time PCR may be a good and simple tool for detection of breast cancer with a potential to clinical applicability together with other current methods used for monitoring the disease.

Background: The rising incidence of renal cell carcinomas (RCC) constitutes a significant challenge owing to risk of overtreatment. Because aberrant microRNA (miR) promoter methylation contributes to cancer development, we investigated whether altered miR-30a-5p expression associates with DNA promoter methylation and evaluated the usefulness as clear cell RCC (ccRCC) diagnostic and prognostic markers. Methods: Genome-wide methylome and RNA sequencing data from a set of ccRCC and normal tissue samples from The Cancer Genome Atlas (TCGA) database were integrated to identify candidate CpG loci involved in cancer onset. MiR-30a-5p expression and promoter methylation were quantitatively assessed by PCR in a tissue set (Cohort #1) and urine sets (Cohorts #2 and 3) from IPOPorto and Homburg University Hospital. Non-parametric tests were used for comparing continuous variables. MiR-30a-5p promoter methylation (miR-30a-5p me) performance as diagnostic (receiver operator characteristics [ROC]-validity estimates) and prognostic [metastasis-free (MFS) and disease-specific survival (DSS)] biomarker was further validated in urine samples from ccRCC patients by Kaplan Meier curves (with log rank) and both univariable and multivariable analysis. Results: Two significant hypermethylated CpG loci in TCGA ccRCC samples, correlating with miR-30a-5p transcriptional downregulation, were disclosed. MiR-30a-5p me in ccRCC tissues was confirmed in an independent patient's cohort of IPOPorto and associated with shorter time to relapse. In urine samples, miR-30a-5p me levels identified cancer both in testing and validation cohorts, with 83% sensitivity/53% specificity and 63% sensitivity/67% specificity, respectively. Moreover, higher miR-30a-5p me levels independently predicted metastatic dissemination and survival.

Tailgut cysts (TGCs) are rare congenital entities arising from remnants of the embryological postanal primitive gut. Malignancy in TGCs is rare, with the majority being adenocarcinomas and carcinoid tumors. A search of the published literature yielded only 27 cases of adenocarcinoma developing in TGCs. We described the case of a 54-year-old female who presented with complaints of pelvic and perineal pain of several weeks. After the initial work-up, a mass in the right presacral location was diagnosed. She underwent radical resection of the tumor, using a posterior approach. The lesion was removed en bloc with the middle rectum, coccyx, and sacrum (S4-S5). The histopathologic examination revealed an adenocarcinoma arising in a TGC, and the patient received adjuvant chemoradiotherapy. Our case underlines that diagnosing a TGC is difficult as it is a rare congenital lesion. Clinical examination may be challenging as TGCs present with various symptoms, which can mimic other commonly proctologic disorders. Patients should be referred to a tertiary center with experience in pelvic surgery and must be managed by a multidisciplinary approach to maximize successful treatment. The recommended treatment is surgical excision given the malignant potential of TGCs and their risk of causing local complications.

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