1,721,002 research outputs found

    Ruolo della metilazione e della acetilazione del DNA nel carcinoma renale a cellule chiare: analisi di 50 pazienti sottoposti a chirurgia radicale con lungo follow-up

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    La deregolazione della espressione genica rappresenta il segno distintivo delle neoplasie. Sebbene le lesioni geniche sono state oggetto delle più importanti ricerche scientifiche in campo oncologico degli ultimi anni, i ricercatori stanno acquisendo sempre maggiori certezze sul fatto che le modificazioni epigenetiche a livello del DNA giochino un ruolo di primo piano nel processo di oncogenesi. Tali modificazioni si verificano a livello della cromatina nucleare, senza alterare in alcun modo la sequanza nucleotidica delle basi azotate da cui è composto il DNA stesso, e si manifestano attraverso dei pattern specifici di espressione genica che risulta ereditabile attraverso successive divisioni cellulari. Allo stato attuale delle conoscenze, il marcatore epigenetico meglio noto è la metilaizone del DNA. L’iniziale scoperta di un livello ridotto di metilazione globale del DNA nei tumori, è stato subio accompagnato dalla identificazione di loci ipermetilati a livello dei geni oncosoppressori. Attualmente è inoltre noto che il pattern di metilazione del DNA si verifica in un background di complessità strutturale cromatinica ed è influenzato dalla modificazione della struttura degli istoni, comunemente alterati nelle cellule neoplastiche. Tutti gli studi oncologici si propongono come obiettivo la precoce identificazione delle lesioni neoplastiche e la determinazione del rischio evolutivo in termini prognostici. La possibilità di individuare zone di ipermetilazione del DNA è da considerarsi pertanto un promettente strumento diagnostico in campo oncologico dal momento che aberranti eventi di metilazione intervengono frequentemente all’interno del DNA delle cellule neoplastiche, verificandosi precocemente nel processo di oncogenesied è possibile che specifici pattern di ipermetilazione siano presenti in differenti neoplasie. Marcatori molecolari di metilazione possono inoltre essere utilizzati per ottimizzare le classificazioni delle neoplasie, per predire la prognosi dei pazienti oncologici e la risposta alla terapia. L’aspetto sicuramente più significativo è che in virtù della loro natura dinamica e della loro potenziale reversibilità, le modificaizoni epigenetiche possono rappresentare dei bersagli terapeutici nella cura delle neoplasie. Dal momento che interessanti studi molecolari hanno individuato la presenza dei marcatori epigenetici anche nelle neoplasie urologiche ed, in particolare, anche in quelle del rene, nel nostro lavoro abbiamo analizzato lo stato di metilazione globale e di acetilazione istonica in 50 carcinomi renali a cellule chiare sottoposti ad interventi di chirurgia radicale, allo scopo di valutare il loro valore diagnostico e prognostico, accanto ai consueti parametri clinico-patologici. Dal nostro studio è emerso che la percentuale media di metilazione globale del DNA era significativamente maggiore nel tessuto neoplastico rispetto a quello sano, mentre la acetilazione istonica è risultata minore nelle cellule neoplastiche rispetto a quelle non neoplastiche del parenchima renale circostante. Sebbene non sia emersa una correlazione statisticamente significativa con la sopravvivenza, il livello di metilazione globale del DNA è risultato maggiore nei pazienti con carcinomi di grado istologico peggiore indicando che, al di là del grado istologico di Fuhrman, il pattern di metilaizone globale e di acetilazione istonica rappresentino dei possibili marcatori di aggressività nei carcinomi renali a cellule chiare.Deregulation of gene expression is a hallmark of cancer. Although genetic lesions have been the focus of cancer research for many years, it has become increasingly recognized that aberrant epigenetic modifications also play major roles in the tumorigenic process. These modifications are imposed on chromatin, do not change the nucleotide sequence of DNA, and are manifested by specific patterns of gene expression that are heritable through many cell divisions, The best-known epigenetic marker is DNA methylation. The initial finding of global hypomethylation of DNA in human tumors was soon followed by the identification of hypermethylated tumor-suppressor genes. Moreover, we now know that DNA methylation occurs in a complex chromatin network and is influenced by the modifications in histone structure that are commonly disrupted in cancer cells. Early detection and risk assessment remain high priorities in oncology. Detection of hypermethylated DNA is considered a promising diagnostic tool in cancer because aberrant methylation events are abundant in tumors, occur early in the tumorigenic process, and different cancers exhibit specific hypermethylation patterns DNA methylation markers can also be used for disease classification, and to predict prognosis and response to therapy. Because of their dynamic nature and potential reversibility, epigenetic modifications are appealing therapeutic targets in cancer. We investigated global methylation and histone acetylation in 50 conventional clear cell renal carcinomas, treated with radical nephrectomy, to assess their possible role as diagnostic biomarkers. The features considered in this study were patient age, tumor size and grade, percentage of 5-methylcytosine and Acetyl-Histone (Lys 9) expression in tumor tissue. All considered parameters were correlated with patient specific survival. The mean percentage of global cellular methylation in tumoral tissue was significantly higher compared to normal peritumoral tissue, while the intensity of cellular methylation was significantly higher in normal tissues than in tumoral tissue. The mean percentage of histone cellular acetylation in tumoral tissue was significantly lower compared to normal peritumoral tissue, while the intensity of mean acetylation in neoplastic tissue was similar to the normal tissue. Fuhrman grade resulted to be statistically significant for prognosis. Global DNA methylation and histone acetylation in tumoral tissue did not correlate with survival. The percentage of global DNA methylation was significantly higher in grades 3 and 4 tumors. Fuhrman grade is still considered the most important factor for patient survival; the percentage of global methylation increases with increasing Fuhrman grade; global hypermethylation and histone hypoacetylation can have a role as markers of aggressiveness

    COVID-19 vaccination and penile Mondor disease. There is any relationship?

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    : Dear Editor, the pandemic spread of Coronavirus 2 infection (SARS-CoV-2), determining the coronavirus disease 2019 (Covid-19), had devastating consequences globally with several waves affecting social and economic life. The use of masks, physical distancing, testing of exposed or symptomatic persons, contact tracing and isolation have helped limit the transmission where they have been rigorously applied; however, these actions have proved not sufficient to limit the virus spread [...]

    Granulomatous prostatitis: mimicking locally advanced prostate adenocarcinoma

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    : We report the case of a 63-year-old male who came to the urology clinic with an increasing value of the prostate specific antigen and an asymmetrical enlargement at the digital rectal examination. The man was subjected to an MRI of the prostate following which a convincing radiological diagnosis of prostate cancer was made. The patient was assigned a provisional stage of disease T3a N0. In order to confirm this diagnosis, a prostate biopsy was performed but the histological analysis reported non-specific granulomatous prostatitis (GP). It is an uncommon condition that both clinically and radiologically on TRUS and MRI usually mimics prostate cancer (PCa), representing a diagnostic challenge due to its non-specific symptoms and aspecific radiological findings. In this case report we discuss the magnetic resonance imaging features of this rare clinical condition in order to help radiologists in the timely diagnosis for a correct diagnostic framing

    Scanning Super/Ultrapulsed CO<sub>2</sub> Laser Efficacy in Laryngeal Malignant Lesions

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    Introduction: The authors review their experience in transoral laryngeal microsurgery (TLM) that they performed with two different CO2 laser devices from the same company, which were both equipped with a micromanipulator and digital scanner. Material and Methods: A total of 91 glottic and glotto-supraglottic cancers were treated during the years 2009–2016 and then analyzed in relation to the laser performances and the long-term oncologic results. Results: Laser devices proved to be very efficient and the UP mode was confirmed to be the best in terms of cutting precision and lowest thermal damage. Conclusions: CO2 laser TLM is the preferred option for the majority of small–medium size glottic and supraglottic cancers and may also be used for bigger tumors, especially in older patients

    Pilomatrical Tumor of Low Malignant Potential: A Tumor Between Pilomatricoma and Pilomatrical Carcinoma

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    We report a case of pilomatrical tumor showing intermediate histological features between pilomatricoma and pilomatrical carcinoma. The lesion recurred twice with the same histological features. Similar cases were was probably called aggressive or proliferating pilomatixoma; we think that the term pilomatrical tumor of low malignant potential is more suitable for this lesions. Excision with wide free margins and follow-up are recommended

    Long‐term remission of extramedullary cutaneous relapse of acute myeloid leukaemia (leukaemia cutis) treated with decitabine‐venetoclax

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    In February 2020, a 74‐year‐old female was diagnosed with myelomonocytic acute myeloid leukaemia with FLT3 mutation and blasts positive for CD33, BCL‐2 and CD68/PGM1. Not responding to a standard Cytarabine–containing regimen plus Midostaurin, the patient achieved a complete remission (CR) of the disease in the bone marrow following a reinduction therapy with high‐dose Cytarabine but simultaneously relapsed developing leukaemia cutis with disseminated lesions in 80% of the body surface area. After receiving 10 cycles of Decitabine plus Venetoclax the patient achieved and maintains a continuous CR

    Tumid Lupus Erythematosus (TLE): A Review of a Rare Variant of Chronic Cutaneous Lupus Erythematosus (cCLE) with Emphasis on Differential Diagnosis

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    Tumid lupus erythematosus (TLE) has been the subject of heated debate regarding its correct nosographic classification. The definition of TLE has changed over time, varying according to the different studies performed. In this review, we address the initial definition of TLE, the changes that have taken place in the understanding of TLE, and its placement within the classification of cutaneous lupus erythematosus (CLE), with a focus on clinical, histopathological, immunophenotypical, and differential diagnosis aspects
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