Somatic NGS Analysis of DNA Damage Response (DDR) Genes , , , , and in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.

Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict the cancer's response to treatment as less than 20% of patients experience pathological complete response (pCR). Ionizing radiations induce double strand breaks (DSBs) and trigger a DNA damage response (DDR) involving ATM, ATR, and the MRN complex (MRE11, Rad50, and NBS1). In this study, we performed an extensive mutational analysis of the genes involved in the DDR pathway in LARC patients who have undergone nCRT.

Real-Life Experience of the Prognostic Significance of the Primary Tumor Location on the Timing of Colorectal Liver Metastases: A Retrospective Analysis.

Background Numerous research studies have looked into how the primary tumor location (PTL) affects patients' prognosis for colorectal cancer (CRC). Our research aimed to investigate the prognostic effects of PTL in patients with synchronous (SM) and metachronous (MM) colorectal cancer liver metastases (CRCLM). Material and methods From 2016 to 2021, we looked back at the records of patients at our institute who were affected by CRCLM.

Contrast-Enhanced Ultrasound Findings in Patients with Rare Solitary Necrotic Nodule of the Liver - a Multicenter Report.

Purpose:  This multicenter retrospective study highlights the contrast-enhanced ultrasound (CEUS) findings in a series of histologically proven solitary necrotic nodules (SNN) of the liver, a poorly understood pathologic entity of uncertain origin that mimics malignancy.

Materials And Methods:  22 patients (M/F 13/9; mean age 59.4 years, SD ± 10.

Correlation of Tumor Location to Clinical Outcomes in Colorectal Cancer: A Single-institution Retrospective Analysis.

Background/aim: Recent data highlighted that location of metastatic colorectal cancer (mCRC) may have a prognostic impact and also a predictive value of the outcomes of first-line therapy.

Materials And Methods: The records of mCRC patients who underwent first-line therapy from 2011 to April 2018 at our Institute were retrospectively reviewed. Progression-free survival (PFS), overall survival (OS) and objective response rate (ORR) according to the primary tumor location were investigated.

Granulomatous interstitial nephritis in a patient with Crohn's disease.

A case of granulomatous interstitial nephritis (GIN) associated with Crohn's disease (CD) was reported. GIN is a rare pathological finding in renal biopsy specimens. In a patient affected by CD, granulomas may be found in various tissues and organs such as lymph nodes, mesentery, liver, and lungs and occasionally in bones, joints, and skeletal muscle.

Liver schistosomiasis: an unexpected finding in hepatitis B virus-related chronic hepatitis.

Case Report: We report the unusual case of an African patient who underwent a liver biopsy for a chronic HBV-related hepatitis, whose histological sample also unexpectedly revealed elements diagnostic for schistosomiasis. The patient was only mildly symptomatic for the Schistosoma infestation; stool examination confirmed the presence of parasitic eggs. Hepatitis B virus (HBV)-schistosomiasis co-infection is particularly rare in Western countries.

Transcriptome profile of human colorectal adenomas.

Colorectal cancers are believed to arise predominantly from adenomas. Although these precancerous lesions have been subjected to extensive clinical, pathologic, and molecular analyses, little is currently known about the global gene expression changes accompanying their formation. To characterize the molecular processes underlying the transformation of normal colonic epithelium, we compared the transcriptomes of 32 prospectively collected adenomas with those of normal mucosa from the same individuals.

A diagnosis of Fabry gastrointestinal disease by chance: a case report.

Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A. This determines an accumulation of globotriaosylceramide within lysosomes. The clinical picture is highly variable and depends on cellular storage deposition.

Renal oncocytoma associated with necrotizing glomerulonephritis.

A case of renal oncocytoma associated with focal segmental necrotizing glomerulonephritis is described. The patient showed haematuria, mild proteinuria and arterial hypertension; the diagnosis was made after right nephrectomy performed because of the presence of a renal mass. A severe re-activation of the glomerulonephritis was observed 15 months after the nephrectomy and a steroid and immunosuppressive therapy was started.