Daniela Furlan
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View article: Harmonization trial on ESR1 testing strategies in ER+/HER2- breast cancer patients: an Italian experience
Harmonization trial on ESR1 testing strategies in ER+/HER2- breast cancer patients: an Italian experience Open
NGS and dPCR systems may be considered valid technical solutions to target low frequency ESR1 alterations in diagnostic routine samples. Harmonized ring trials are key weapons to standardize analytical and post-analytical procedures…
View article: Biomarker testing implementation for molecularly targeted therapy in non-small cell lung cancer patients
Biomarker testing implementation for molecularly targeted therapy in non-small cell lung cancer patients Open
Background: Recent advancements in identifying druggable molecular drivers in lung adenocarcinoma (LUAD), have transformed treatment paradigms. In recent years, Next Generation Sequencing (NGS) has gained momentum as an essential tool for …
View article: KRAS/NRAS variants and copy number alterations prognostically stratify patients with sinonasal melanoma
KRAS/NRAS variants and copy number alterations prognostically stratify patients with sinonasal melanoma Open
Sino-nasal mucosal melanoma (SN-MM) is an aggressive and rare form of melanoma arising from mucosal melanocytes with pathogenesis unrelated to sun exposure. Conversely to cutaneous melanoma (CM), the molecular bases underling SN-MM develop…
View article: <scp>LINE</scp> ‐1 hypomethylation characterizes the inflammatory response in coeliac disease associated‐intestinal mucosa and small bowel adenocarcinomas
<span>LINE</span> ‐1 hypomethylation characterizes the inflammatory response in coeliac disease associated‐intestinal mucosa and small bowel adenocarcinomas Open
Long interspersed nuclear elements 1 (LINE‐1) are the most abundant and the only autonomous mobile elements in the human genome. When their epigenetic repression is removed, it can lead to disease, such as autoimmune diseases and cancer. C…
View article: Outbreak of Acute Fulminant Myocarditis in Children in Campania Region, Italy: A Case Series
Outbreak of Acute Fulminant Myocarditis in Children in Campania Region, Italy: A Case Series Open
Acute fulminant myocarditis is a rare event in children, accounting for about 10% of all cases of acute myocarditis. Its lack of specific onset patterns and unpredictable evolution make diagnosis and prompt treatment challenging. We observ…
View article: MBNL2-ALK: A novel ALK fusion transcript in a sinonasal melanoma
MBNL2-ALK: A novel ALK fusion transcript in a sinonasal melanoma Open
View article: Medullary carcinomas of the nonampullary small intestine: association with coeliac disease, mismatch repair deficiency, PD‐L1 expression, and favourable prognosis
Medullary carcinomas of the nonampullary small intestine: association with coeliac disease, mismatch repair deficiency, PD‐L1 expression, and favourable prognosis Open
Aim Gastrointestinal medullary carcinoma is a rare histologic subtype of adenocarcinoma. As nonampullary small bowel medullary carcinomas (SB‐MCs) are poorly characterized, we aimed to analyse their clinicopathologic and immunohistochemica…
View article: Molecular characterization of diffuse large B‐cell lymphomas associated with hepatitis C virus infection
Molecular characterization of diffuse large B‐cell lymphomas associated with hepatitis C virus infection Open
Summary Hepatitis C virus (HCV)‐associated diffuse large B‐cell lymphoma (DLBCL) displays peculiar clinicopathological characteristics, but its molecular landscape is not fully elucidated. In this study, we investigated the clinicopatholog…
View article: Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience
Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience Open
View article: <i>IDH1</i>‐mutated Crohn's disease‐associated small bowel adenocarcinomas: Distinctive pathological features and association with <i>MGMT</i> methylation and serrated‐type dysplasia
<i>IDH1</i>‐mutated Crohn's disease‐associated small bowel adenocarcinomas: Distinctive pathological features and association with <i>MGMT</i> methylation and serrated‐type dysplasia Open
Aims Patients with Crohn's disease (CrD) have an elevated risk for the development of small bowel adenocarcinomas (SBAs). Actionable isocitrate dehydrogenase 1 ( IDH1 ) mutations have been reported to be more frequent in CrD‐SBAs than in s…
View article: Mismatch repair deficiency as prognostic factor for stage III small bowel adenocarcinoma: A multicentric international study
Mismatch repair deficiency as prognostic factor for stage III small bowel adenocarcinoma: A multicentric international study Open
View article: Molecular Landscape and Association With Crohn Disease of Poorly Cohesive Carcinomas of the Nonampullary Small Bowel
Molecular Landscape and Association With Crohn Disease of Poorly Cohesive Carcinomas of the Nonampullary Small Bowel Open
Objectives Poorly cohesive carcinomas (PCCs) are neoplasms defined by a predominantly dyshesive growth pattern with single cell or cord-like stromal infiltration. The distinctive clinicopathologic and prognostic features of small bowel PC…
View article: Multimodal imaging approach in hyponatremic hypertensive syndrome. A rare case of pediatric unilateral hypoplasia of the main renal artery combined itself with stenosis and review of literature
Multimodal imaging approach in hyponatremic hypertensive syndrome. A rare case of pediatric unilateral hypoplasia of the main renal artery combined itself with stenosis and review of literature Open
Renal artery stenosis (RAS) accounts for approximately 5%-10% of secondary renovascular hypertension in the pediatric population. It can occur as an isolated entity, or as a hypoplasia combined itself with stenosis. Hypoplasia, or long-seg…
View article: Molecular remission is an independent predictor of progression‐free survival in patients with Waldenström macroglobulinemia treated with chemo‐immunotherapy: Results from the FIL_BIOWM study
Molecular remission is an independent predictor of progression‐free survival in patients with Waldenström macroglobulinemia treated with chemo‐immunotherapy: Results from the FIL_BIOWM study Open
Waldenström macroglobulinemia (WM) is a mature B-cell neoplasm characterized by bone marrow (BM) infiltration by lymphoplasmacytic lymphoma and a monoclonal IgM protein in the serum.1 The past 2 decades have witnessed important treatment a…
View article: Tumor Antigenicity and a Pre-Existing Adaptive Immune Response in Advanced BRAF Mutant Colorectal Cancers
Tumor Antigenicity and a Pre-Existing Adaptive Immune Response in Advanced BRAF Mutant Colorectal Cancers Open
The main hypothesis of this study is that gene expression profiles (GEPs) integrating both tumor antigenicity and a pre-existing adaptive immune response can be used to generate distinct immune-related signatures of BRAF mutant colorectal …
View article: Methylation Drivers and Prognostic Implications in Sinonasal Poorly Differentiated Carcinomas
Methylation Drivers and Prognostic Implications in Sinonasal Poorly Differentiated Carcinomas Open
Background: Poorly differentiated sinonasal carcinomas (PDSNCs) are rare and aggressive malignancies, which include squamous cell carcinoma (SCC), sinonasal undifferentiated carcinoma (SNUC), and neuroendocrine carcinomas (NEC). Several ep…
View article: Correction to: Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction
Correction to: Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction Open
View article: Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction
Evaluation of global and intragenic hypomethylation in colorectal adenomas improves patient stratification and colorectal cancer risk prediction Open
View article: Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm
Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm Open
View article: Prognostic relevance and putative histogenetic role of cytokeratin 7 and MUC5AC expression in Crohn’s disease-associated small bowel carcinoma
Prognostic relevance and putative histogenetic role of cytokeratin 7 and MUC5AC expression in Crohn’s disease-associated small bowel carcinoma Open
View article: MYD88L265P Detection in IgM Monoclonal Gammopathies: Methodological Considerations for Routine Implementation
MYD88L265P Detection in IgM Monoclonal Gammopathies: Methodological Considerations for Routine Implementation Open
In IgM monoclonal gammopathies MYD88L265P is a prognostic and predictive biomarker of therapy response. MYD88L265P detection is mainly performed by allele-specific quantitative PCR (ASqPCR), however recently, droplet digital PCR (ddPCR) ha…
View article: Gene Expression Profiling of Pancreas Neuroendocrine Tumors with Different Ki67-Based Grades
Gene Expression Profiling of Pancreas Neuroendocrine Tumors with Different Ki67-Based Grades Open
Pancreatic neuroendocrine tumors (PanNETs) display variable aggressive behavior. A major predictor of survival is tumor grade based on the Ki67 proliferation index. As information on transcriptomic profiles of PanNETs with different tumor …
View article: Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations
Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations Open
The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their ma…
View article: Small Bowel Adenocarcinomas Featuring Special AT-Rich Sequence-Binding Protein 2 (SATB2) Expression and a Colorectal Cancer-Like Immunophenotype: A Potential Diagnostic Pitfall
Small Bowel Adenocarcinomas Featuring Special AT-Rich Sequence-Binding Protein 2 (SATB2) Expression and a Colorectal Cancer-Like Immunophenotype: A Potential Diagnostic Pitfall Open
Special AT-rich sequence-binding protein 2 (SATB2) is a transcription factor expressed by colonic cryptic epithelium and epithelial neoplasms of the lower gastrointestinal (GI) tract, as well as by small bowel adenocarcinomas (SBAs), thoug…
View article: KRAS inhibition in non–small cell lung cancer: Past failures, new findings and upcoming challenges
KRAS inhibition in non–small cell lung cancer: Past failures, new findings and upcoming challenges Open
View article: Long Survival and Prolonged Remission after Surgery and Chemotherapy in a Metastatic Mismatch Repair Deficient Pancreatic Neuroendocrine Carcinoma with MLH1/PMS2 Immunodeficiency and Minimal Microsatellite Shift
Long Survival and Prolonged Remission after Surgery and Chemotherapy in a Metastatic Mismatch Repair Deficient Pancreatic Neuroendocrine Carcinoma with MLH1/PMS2 Immunodeficiency and Minimal Microsatellite Shift Open
View article: Correction: PD-L1 in small bowel adenocarcinoma is associated with etiology and tumor-infiltrating lymphocytes, in addition to microsatellite instability
Correction: PD-L1 in small bowel adenocarcinoma is associated with etiology and tumor-infiltrating lymphocytes, in addition to microsatellite instability Open
View article: PD-L1 in small bowel adenocarcinoma is associated with etiology and tumor-infiltrating lymphocytes, in addition to microsatellite instability
PD-L1 in small bowel adenocarcinoma is associated with etiology and tumor-infiltrating lymphocytes, in addition to microsatellite instability Open
View article: EGFR T790M detection rate in lung adenocarcinomas at baseline using droplet digital PCR and validation by ultra-deep next generation sequencing
EGFR T790M detection rate in lung adenocarcinomas at baseline using droplet digital PCR and validation by ultra-deep next generation sequencing Open
Routine test of baseline EGFR T790M may have an important role in the prediction to EGFR TKI therapy response and should be performed using highly sensitive and quantitative methods, such as ddPCR and NGS, in order to reliably disti…
View article: The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression
The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression Open