Publications by authors named "Mazzucchelli L"

Glioblastoma multiforme (GBM) is usually treated with surgery followed by adjuvant partial radiotherapy combined with temozolomide (TMZ) chemotherapy. Recent studies demonstrated a better survival and good response to TMZ in methylguanine-DNA methyltransferase ()-methylated GBM cases. However, approximately 20% of patients with -unmethylated GBM display an unexpectedly favorable outcome.

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  • The Swiss Digital Pathology Consortium organized a Delphi process to develop recommendations for integrating digital pathology (DP) into clinical settings as new technologies emerge.
  • Four working groups were established to focus on critical aspects of DP systems, including scanners, integration with laboratory information systems, quality compliance, and image analysis with AI.
  • The outcome consists of 83 consensus statements that serve as guidelines for hospitals, researchers, and developers to promote effective and secure use of digital pathology.
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Large skeletal muscle defects owing to trauma or following tumor extirpation can result in substantial functional impairment. Purified exosomes are now available clinically and have been used for wound healing. The objective of this study was to evaluate the regenerative capacity of commercially available exosomes on an animal model of volumetric muscle loss (VML) and its potential translation to human muscle injury.

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Background & Aims: Liver injury after COVID-19 vaccination is very rare and shows clinical and histomorphological similarities with autoimmune hepatitis (AIH). Little is known about the pathophysiology of COVID-19 vaccine-induced liver injury (VILI) and its relationship to AIH. Therefore, we compared VILI with AIH.

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Purpose: Dedifferentiated melanoma (DedM) poses significant diagnostic challenges. We aimed to investigate the clinical, histopathological and molecular features of DedM. Methylation signature (MS) and copy number profiling (CNP) were carried out in a subgroup of cases.

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Glioblastoma multiforme (GBM) remains one of the tumors with the worst prognosis. In recent years, a better overall survival (OS) has been described in cases subjected to Gross Total Resection (GTR) that were presenting hypermethylation of Methylguanine-DNA methyltransferase (MGMT) promoter. Recently, also the expression of specific miRNAs involved in MGMT silencing has been related to survival.

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Background: Hepatocellular adenoma (HCA) is a rare liver tumour, which can have atypical morphological features such as cytological atypia, pseudoglandular architecture, and altered reticulin framework. Little is known about the genetic and epigenetic alterations of such HCAs and whether they show the alterations classically found in hepatocellular carcinoma (HCC) or in HCA without atypical morphology.

Methods: We analysed five HCAs with atypical morphological features and one HCA with transition to HCC.

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Background: The stability of a suture knot construct has been realized as an important parameter that affects the strength of flexor tendon repairs. A novel 2-strand-overhand-locking (TSOL) knot, which is not commonly used in the clinical setting, recently was reported to increase repair strength and to decrease tendon gliding resistance in a 2-strand repair technique. The purpose of the present study was to investigate the effect of the TSOL knot on tendon repair strength and gliding resistance compared with a typical surgical knot in both 2-strand and 4-strand repair techniques using an in vitro turkey flexor tendon model.

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Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.

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Introduction: Circulating tumor DNA (ctDNA) correlates with the response to therapy in different types of cancer. However, in patients with locally advanced rectal cancer (LARC), little is known about how ctDNA levels change with neoadjuvant chemoradiation (Na-ChRT) and how they correlate with treatment response. This work aimed to explore the value of serial liquid biopsies in monitoring response after Na-ChRT with the hypothesis that this could become a reliable biomarker to identify patients with a complete response, candidates for non-operative management.

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Background: Immune checkpoint inhibitors (ICIs) targeting PD-1 or PD-L1 improved the survival of non-small cell lung cancer (NSCLC) patients with PD-L1 expression ≥50% and without alterations in EGFR, ALK, ROS1, RET. However, markers able to predict the efficacy of ICIs, in combination with PD-L1 expression are still lacking. Our aim in this hypothesis-generating pilot study was to evaluate whether the KRAS G12C variant may predict the efficacy of ICIs in advanced NSCLC patients with PD-L1 ≥ 50%.

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In occupational epidemiology, job coding is an important-but time-consuming-step in assigning exposure. We implemented a tool (i.e.

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Chronic liver inflammation causes continuous liver damage with progressive liver fibrosis and cirrhosis, which may eventually lead to hepatocellular carcinoma (HCC). Whereas the 10-year incidence for HCC in patients with cirrhosis is approximately 20%, many of these patients remain tumor free for their entire lives. Clarifying the mechanisms that define the various outcomes of chronic liver inflammation is a key aspect in HCC research.

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Pilocytic astrocytoma is a WHO grade I tumor usually diagnosed in pediatric patients, and rarely encountered in the adult population. Therefore, available information about the magnetic resonance imaging characteristics of adult pilocytic astrocytoma is scarce. We report on the MRI features and corresponding histopathologic findings of six consecutive aPA cases diagnosed.

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The SMARCA subgroup of genes belongs to the SWI1/SNF1 family, responsible for chromatin remodeling and repair within the nucleosome. The SMARCA4 gene is located on chromosome 19p13 and encodes the BRG1 (BRAhMA) protein. We report the cytological and histological findings in one case of large cell SMARCA4 deficient ovarian carcinoma with positive peritoneal washing in a 69-year-old woman.

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Transthyretin amyloidosis (ATTR amyloidosis) is a disease caused by deposition of transthyretin fibrils in organs and tissues, which causes their dysfunction. The clinical heterogeneity of ATTR amyloidosis and the variable presentation of symptoms at early disease stages, historically meant treatment delays. Diagnostic tools and therapy options of ATTR amyloidosis have markedly improved in recent years.

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  • - Splenic marginal zone B-cell lymphoma (SMZL) is a complex condition with varying clinical outcomes, influenced by multiple gene mutations and diverse regulatory pathways, making it critical to identify different subgroups based on their genetic and environmental features.
  • - Researchers analyzed 303 spleen samples from an international study to understand these subgroups, ultimately identifying two main genetic clusters: NNK (58% of cases) and DMT (32% of cases), each with unique genetic profiles and survival outcomes.
  • - The study revealed two types of immune microenvironments within SMZL: immune-suppressive and immune-silent, highlighting their distinct clinical implications and the potential for improving classification and targeted therapies in this disease.
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  • - The phase I trial assessed the safety and effectiveness of inotuzumab ozogamicin combined with temsirolimus in patients with challenging B-cell non-Hodgkin lymphomas, with nineteen patients participating.
  • - Significant side effects included thrombocytopenia and neutropenia, leading to dose adjustments and limiting the potential for wider use of the drug combination.
  • - Out of 18 evaluable patients, 39% achieved a partial remission, but overall therapeutic use is complicated by the high toxicity levels associated with the treatment.
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Background: A disappearance of RAS mutations in the plasma of about 50% of mCRCs (metastatic colorectal cancers) treated with bevacizumab-based chemotherapy has been reported. Our aim was to evaluate the same issue at tissue level.

Materials And Methods: Using next-generation sequencing and real-time PCR approaches, we characterized the primary tumor (PT) and paired liver metastases in 28 RAS mutant mCRCs.

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Systemic amyloidosis is a heterogeneous group of diseases associated with protein misfolding into insoluble beta-sheet rich structures that deposit extracellularly in different organs, eventually compromising their function. There are more than 30 different proteins, known to be amyloidogenic with “light chain” (AL)-amyloidosis being the most common type, followed by transthyretin (ATTR)-, and amyloid protein A (AA)-amyloidosis. Systemic amyloidosis is a rare disease with an incidence of around 10 patients in 1 million inhabitants.

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Background & Aim: The diagnosis of primary biliary cholangitis (PBC), an uncommon immune-mediated cholestatic liver disease, is based on positive circulating anti-mitochondrial (AMA) and/or PBC-specific anti-nuclear autoantibodies (ANA), coupled with elevated serum alkaline phopsphatase (ALP) levels. Timely initiation of treatment with ursodeoxycholic acid prevents progression to cirrhosis and liver failure. We aimed at investigating liver histology in patients with normal ALP level and positive AMA and/or PBC-specific ANA.

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  • - ROR1, a protein typically absent in adult tissues but present in embryonic ones, was studied for its role in lung adenocarcinoma (AC) as it has been linked to poor prognosis and tumor growth.
  • - In this study of 56 lung AC patients, ROR1 was overexpressed in about 28.6% of cases, suggesting a potential therapeutic target for those without common genetic alterations.
  • - The research found that ROR1 expression did not correlate with well-known lung cancer genetic mutations or with TTF-1 expression, indicating that ROR1 may play a distinct role in lung cancer biology.
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As part of the assessment and management of chemical risk and occupational hygiene, retrospective exposure assessment (REA) to chemical agents can be defined as the estimate of exposure associated with a person's work history. The fundamental problem underlying the reconstruction of the exposure is that of transforming this type of information in quantitative terms to obtain an accurate estimate. REA can follow various approaches, some of which are technically complicated and both time and resource consuming.

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