Search results for " NEOPLASIA"
showing 10 items of 98 documents
Metilazione del DNA in artrite reumatoide
2005
Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…
Chromoendoscopy in Inflammatory Bowel Disease
2012
Chromoendoscopy with methylene blue or indigo carmine significantly increases the diagnostic yield of finding intraepithelial neoplasia in patients with longstanding colitis. The number needed to treat is 14 for panchromoendoscopy to identify 1 additional patient with dysplasia. Chromoendoscopy can greatly facilitate the identification of flat lesions harboring intraepithelial neoplasia. Chromoendoscopy can guide biopsies and clearly reduces the amount of biopsies that are needed per patient. Magnifying endoscopy or CLE are additional techniques, which can be used in conjunction with chromoendoscopy to further reduce the amount of biopsies and to further increase the diagnostic yield. Chrom…
EZH2 mutations are frequent and represent an early event in follicular lymphoma
2013
Gain of function mutations in the H3K27 methyltransferase EZH2 represent a promising therapeutic target in germinal center lymphomas. In this study, we assessed the frequency and distribution of EZH2 mutations in a large cohort of patients with follicular lymphoma (FL) (n = 366) and performed a longitudinal analysis of mutation during the disease progression from FL to transformed FL (tFL) (n = 33). Mutations were detected at 3 recurrent mutation hot spots (Y646, A682, and A692) in 27% of FL cases with variant allele frequencies (VAF) ranging from 2% to 61%. By comparing VAF of EZH2 with other mutation targets (CREBBP, MLL2, TNFRSF14, and MEF2B), we were able to distinguish patients harbori…
Duodenal perforation as presentation of gastric neuroendocrine tumour: A case report
2020
Highlights • Gastric neuroendocrine neoplasms (g-NENs) represent the most frequent digestive NENs and are increasingly recognized thanks to diffusion of upper gastrointestinal endoscopy. • g-NENs can be sporadic or associated with multiple endocrine neoplasia type 1 (MEN-1) and present with a functional Zollinger-Ellison syndrome. • We described a case of a 60 years old Caucasian male came to emergency room with diffuse abdominal pain and leukocytosis on blood tests. • At the level of the pyloric portion we found irregularly thickened walls associated with a small fluid collection and bubbles of free air. On exploratory laparoscopy we found a large perforation (about 5 cm of size) in the fi…
The Transcription Factors TBX2 and TBX3 Interact with Human Papillomavirus 16 (HPV16) L2 and Repress the Long Control Region of HPVs
2013
ABSTRACT The minor capsid protein L2 of human papillomaviruses (HPVs) has multiple functions during the viral life cycle. Although L2 is required for effective invasion and morphogenesis, only a few cellular interaction partners are known so far. Using yeast two-hybrid screening, we identified the transcription factor TBX2 as a novel interaction partner of HPV type 16 (HPV16) L2. Coimmunoprecipitations and immunofluorescence analyses confirmed the L2-TBX2 interaction and revealed that L2 also interacts with TBX3, another member of the T-box family. Transcription of the early genes during HPV infection is under the control of an upstream enhancer and early promoter region, the long control r…
Chromoscopy-Guided Endomicroscopy Increases the Diagnostic Yield of Intraepithelial Neoplasia in Ulcerative Colitis
2007
Background & Aims: Because of the large number of biopsy specimens, surveillance colonoscopy in ulcerative colitis (UC) is currently time consuming and significant flat lesions still may be missed. In this study we assessed the value of combined chromoscopy and endomicroscopy for the diagnosis of intraepithelial neoplasias in a randomized controlled trial. Methods: A total of 161 patients with long-term UC in clinical remission were randomized at a 1:1 ratio to undergo conventional colonoscopy or chromoscopy with endomicroscopy. Eight patients were excluded because of insufficient bowel preparation. In the conventional colonoscopic group (n = 73), random biopsy examinations and targeted bio…
Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report
2007
A 5-week-old male patient was seen for symptoms suggestive of Hirschsprung disease (abdominal distension, failure to thrive, and explosive defecation). Rectum biopsies revealed an intestinal ganglioneuromatosis, which is usually associated with multiple endocrine neoplasia (MEN) syndrome type 2B. The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy and central lymphadenectomy were performed at the age of 9 weeks. Histology showed a medullary microcarcinoma. This report of MTC occurrence within the first weeks of life underlines the importance of early …
Edad, creencias de salud y asistencia a un programa de cribado mamográfico en la comunidad valenciana
2004
Yolanda Andreu Vaillo, Mª José Galdón Garrido, Estrella Durá Ferrandis, Stephanie Carretero Gómez (yolanda.andreu@uv.es) La edad influye significativamente en las creencias de salud relacionadas con la asistencia a programas de cribado mamográfico. El objetivo de este trabajo es analizar las creencias y actitudes hacia el cáncer de mama asociadas a la asistencia a un programa de cribado en diferentes grupos de edad.Métodos: Utilizando un diseño transversal se comparan las creencias de salud de un grupo de mujeres que acuden a un programa de cribado con las de las mujeres que no lo hacen, considerando tres intervalos de edad: menores de 50 años (N=279), 50-60 años (N=463), mayores de 60 (N=2…
Vulvar cancer: a review for dermatologists.
2015
Vulvar malignancies are important tumors of the female reproductive system. They represent a serious health issue with an incidence between 2 and 7 per 100,000 and year. We provide a review about most important cancer entities, i.e., melanoma, squamous cell carcinoma, basal cell carcinoma, neuroendocrine cancer, and skin adnexal malignancies. Squamous cell carcinoma is the most common vulvar malignancy that can develop from vulvar intraepithelial neoplasia or de novo. Basal cell carcinoma represents only 2 % of all vulvar cancers. Melanoma of the vulva exists in two major types—superficial spreading and acral lentiginous. A special feature is the occurrence of multiple vulvar melanomas. Of …
Burkitt lymphoma with a granulomatous reaction: an M1/Th1‐polarised microenvironment is associated with controlled growth and spontaneous regression
2021
Aims Burkitt lymphoma (BL) is an aggressive B-cell lymphoma that, in some instances, may show a granulomatous reaction associated with a favourable prognosis and occasional spontaneous regression. In the present study, we aimed to define the tumour microenvironment (TME) in four such cases, two of which regressed spontaneously. Methods and results All cases showed aggregates of tumour cells with the typical morphology, molecular cytogenetics and immunophenotype of BL surrounded by a florid epithelioid granulomatous reaction. All four cases were Epstein-Barr virus (EBV)-positive with type I latency. Investigation of the TME showed similar features in all four cases. The analysis revealed a p…