ABSTRACT
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of intermediate malignancy and uncertain differentiation. To date, only four patients diagnosed with AFH located in the chest wall have been described. Herein, we describe a 44-year-old woman diagnosed with breast infiltrating lobular carcinoma. During the imaging study with positron emission tomography-computerized tomography scan, a 4â cm solid lesion located in the chest wall was identified. Fine-needle aspiration followed by surgical excision with intraoperative frozen section study was performed. The combined histomorphologic, immunohistochemical, and molecular findings confirmed the diagnosis of AFH. In this report, we describe, to the best of our knowledge, the first patient with synchronous AFH and breast cancer.
ABSTRACT
Checkpoint with forkhead-associated and ring finger domains (CHFR) has been proposed as a predictive and prognosis biomarker for different tumor types, but its role in pancreatic ductal adenocarcinoma (PDAC) remains unknown. The aim of this study was two-pronged: to review the role of CHFR in PDAC and evaluating CHFR as a potential predictive biomarker in this disease. For this purpose, we first explored the CHFR messenger (m)RNA expression and promoter methylation through the TCGA database. Secondly, the CHFR expression and promoter methylation were prospectively evaluated in a cohort of patients diagnosed with borderline (n = 19) or resectable (n = 16) PDAC by immunohistochemistry (IHC), methylation specific-PCR (MSP), and pyrosequencing. The results from the TCGA database showed significant differences in terms of progression-free survival (PFS) and overall survival (OS) based on the CHFR mRNA expression, which was likely independent from the promoter methylation. Importantly, our results showed that in primarily resected patients and also the entire cohort, a higher CHFR expression as indicated by the higher IHC staining intensity might identify patients with longer disease-free survival (DFS) and OS, respectively. Similarly, in the same cohorts, patients with lower methylation levels by pyrosequencing showed significantly longer OS than patients without this pattern. Both, the CHFR expression intensity and its promoter methylation were established as independent prognostic factors for PFS and OS in the entire cohort. In contrast, no significant differences were found between different methylation patterns for CHFR and the response to taxane-based neoadjuvant treatment. These results suggest the potential role of the higher expression of CHFR and the methylation pattern of its promoter as potential prognostic biomarkers in PDAC, thus warranting further comprehensive studies to extend and confirm our preliminary findings.
ABSTRACT
INTRODUCTION: Serrated polyposis (SP) is an infrequent colorectal cancer (CRC) predisposition syndrome. An unidentified genetic defect is believed to play a role in this condition. The risk of SP and/or CRC for first-degree relatives (FDRs) is not yet well known. The aim of our study was to determine the incidence of both SP and/or CRC by studying the FDRs of our index SP cases and to propose an appropriate interval for colonoscopy surveillance in this group. METHODS: From 2005 to December 2011, we prospectively included all patients from our hospital who fulfilled the SP diagnostic criteria. We interviewed FDRs face to face and offered a colonoscopy to those who were 35 years old or older. The study was carried out with conventional and high-definition colonoscopes and chromoendoscopy with indigo carmine at the discretion of a single endoscopist. The samples were assessed by two pathologists. We reviewed the clinical data for CRC diagnosed previously in FDRs. RESULTS: From 2005, we collected all the new cases of SP and offered a colonoscopy to 95 FDRs of 34 pedigrees. We performed colonoscopies on 78 FDRs (82.1%). The incidence of SP in the FDRs was 32% (25 patients). Seventy-six percent of patients were diagnosed with SP as they had any number of serrated polyps proximal to the sigmoid colon. Only one patient was diagnosed with CRC as a result of the screening colonoscopy. 44.1% of our index cases had an FDR with a diagnosis of CRC. CONCLUSION: Our series, which is the largest prospective cohort of FDRs published, reports an elevated incidence of SP in FDRs, thus supporting the need for screening colonoscopy in FDR and its inclusion in the guidelines.
