A5107921179- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Cancer Immunotherapy and Biomarkers
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Lung Cancer Treatments and Mutations
- Parvovirus B19 Infection Studies
- Colorectal and Anal Carcinomas
- Ferroptosis and cancer prognosis
- Sarcoma Diagnosis and Treatment
- Muscle Physiology and Disorders
- MicroRNA in disease regulation
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Salivary Gland Tumors Diagnosis and Treatment
- Lung Cancer Research Studies
- RNA modifications and cancer
- Neuroendocrine Tumor Research Advances
- Cancer-related molecular mechanisms research
- Tissue Engineering and Regenerative Medicine
- Genetics and Neurodevelopmental Disorders
- Metabolism, Diabetes, and Cancer
- Lymphoma Diagnosis and Treatment
- Testicular diseases and treatments
Regione Campania
2022-2025
Federico II University Hospital
2024
Massachusetts General Hospital
2023
Beth Israel Deaconess Medical Center
2023
The University of Texas MD Anderson Cancer Center
2023
Università Cattolica del Sacro Cuore
2023
Faculty of Media
2023
Centro Diagnostico Italiano
2021
Ceinge Biotecnologie Avanzate (Italy)
2012-2013
University of Naples Federico II
2010-2012
Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, 13 (T21, T18, T13) sex chromosome aneuploidies (SCA) in general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT maternal blood test T21, T13 SCA. Samples were sequenced on NextSeq 550 (Illumina) using VeriSeq Solution v1 assay. Results A retrospective analysis was...
Aim: To assess the medium and long-term performance of Endurant stent graft in a cohort consecutive patients treated with this device for an abdominal aortic aneurysm (AAA) both inside outside instructions use (IFU) to find factors influencing outcomes. Methods: Our observational, retrospective, single-center study included all who consecutively underwent endovascular repair from February 2009 January 2023. Patients AAA treat according current guidelines were included. divided into two...
Microsatellite instability (MSI) is a predictive biomarker for immune checkpoint inhibitors. The main goal was to investigate the discordance between IHC and PCR/NGS MSI testing in gastrointestinal cancers.Two series were analyzed through mismatch-repair-system proteins (MMRP) PCR, with one of 444 colorectal cancers (CRC) other 176 gastric (GC). All cases discordant results PCR by NGS. staining evaluated as follows: proficient MMR (pMMR), all positive; deficient (dMMR), loss heterodimer;...
Genetic dynamics underlying cancer progression are largely unknown and several genes involved in highly prevalent illnesses (e.g., hypertension, obesity, diabetes) strongly concur to phenotype heterogeneity. To study genotype-phenotype relationships contributing the mutational evolution of colorectal (CRC) with a focus on liver metastases, we performed genome profiling tumor tissues CRC patients metastatic disease no co-morbidities. We studied 523 cancer-related tumor-immune microenvironment...
Background/Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene associated with 21-hydroxylase deficiency and increased levels of androgens. Affected females are at risk ambiguous genitalia, while affected males show sexual precocity. Here, we present a case newborn female patient, characterized genitalia previously identified as low for common aneuploidies non-invasive prenatal testing (NIPT). Methods: We performed NIPT,...
Background/Objectives: Endometrial cancer (EC) is a common malignancy in developed countries, with incidence closely linked to lifestyle factors and genetic predispositions, notably Lynch syndrome. Traditional biopsy methods for diagnosis monitoring are invasive. This study aims develop validate non-invasive diagnostic method EC using liquid biopsy, specifically examining circulating tumor DNA (ctDNA) its potential early detection disease monitoring. Methods: A cohort of 63 patients or...
Psychomotor development delays affect 1%-3% of children and encompass a wide range motor, cognitive, social impairments. The histone deacetylase 4 (HDAC4) gene, critical for neurodevelopmental pathways, has been associated with developmental delays, autism spectrum disorders, cognitive Here, we report case female patient global psychomotor delay, hypotonia, feeding difficulties since infancy. By the age seven, she developed epilepsy, later diagnosed as Lennox-Gastaut syndrome. Brain magnetic...
We introduce an innovative, non-invasive prenatal screening approach for detecting fetal monogenic alterations and copy number variations (CNVs) from maternal blood. Method: Circulating free DNA (cfDNA) was extracted peripheral blood processed using the VeriSeq NIPT Solution (Illumina, San Diego, CA, USA), with shallow whole-genome sequencing (sWGS) performed on a NextSeq550Dx (Illumina). A customized gene panel bioinformatics tool, named “VERA Revolution”, were developed to detect variants...
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain epilepsy-associated repeats) have been implicated autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies hair dysplasia. However, the mutational spectrum remains incompletely characterized. Methods: Two female...
Genetics and immunologic dynamics pushing the evolution of colorectal cancer (CRC) from primary tumor to metastases are largely unknown; heterogeneity makes challenging both therapy mechanistic studies. We selected patients developing CRC with lung-limited metastatic disease as only illness during their life in order find any relevant genotype-phenotype relationship. Analysis 523 cancer-relevant genes immune cells infiltration tissues revealed atypical genomic trajectories (TMB decrease,...
The present study was undertaken to analyze prognostic and genetic interactions between type 2 diabetes metastatic colorectal cancer. Patients' survival depicted through the Kaplan-Meier product limit method. Prognostic factors were examined Cox proportional-hazards regression model, associations clinical-pathologic variables evaluated by χ2 test. In total, 203 cancer patients enrolled. Lymph nodes (P = 0.0004) distant organs (> sites, P 0.0451) more frequently involved in diabetic compared...
Pancreatic ductal adenocarcinoma (PDAC), a neoplasm of the gastrointestinal tract, is most common pancreatic malignancy (90%) and fourth highest cause cancer mortality worldwide. Surgery intervention currently only strategy able to offer an advantage in terms overall survival, but prognosis remains poor even for operated patients. Therefore, development robust biomarkers early diagnosis prognostic stratification clinical practice urgently needed. In this work, we investigated deregulated...
Abstract Background TAS-102 (Lonsurf ® ) is an oral fluoropyrimidine consisting of a combination trifluridine (a thymidine analog) and tipiracil phosphorylation inhibitor). The drug effective in metastatic colorectal cancer (mCRC) patients refractory to fluorouracil, irinotecan oxaliplatin. This study real-world analysis, investigating the interplay genotype/phenotype relation sensitivity. Methods Forty-seven consecutive mCRC were treated with at National Cancer Institute Naples from March...
Background: Radiomics, an evolving paradigm in medical imaging, involves the quantitative analysis of tumor features and demonstrates promise predicting treatment responses outcomes. This study aims to investigate predictive capacity radiomics for genetic alterations non-small cell lung cancer (NSCLC). Methods: exploratory, observational integrated radiomic perspectives using computed tomography (CT) genomic through next-generation sequencing (NGS) applied liquid biopsies. Associations...
The growing understanding of cancer biology and the establishment new treatment modalities has not yielded expected results in terms survival for Laryngeal Squamous Cell Cancer (LSCC). Early diagnosis, as well prompt identification patients with high risk relapse would ensure greater chance therapeutic success. However, this goal remains a challenge due to absence specific biomarkers neoplasm.
Background We previously reported rare regressive genetic trajectories of KRAS pathogenic mutations as a specific hallmark the genuine oligometastatic status in colorectal cancer (CRC). Methods Survival and prognostic impact disease extent 140 metastatic CRC patients were evaluated through Kaplan–Meyer curves Log-Rank test. assessed Illumina NovaSeq 6000 platform TruSight™ Oncology 500 kit. HLA typing was carried out by PCR with sequence-specific oligonucleotides. Lymphocyte densities tumors...
We studied the predictive and prognostic influences of hypertension (HT), type 2 diabetes (T2D), weight, p53 mutations in metastatic colorectal cancer (CRC) patients.T2D was diagnosed according to ADA criteria. HT classified ACC/AHA guidelines. BMI (body-mass index) calculated WHO TruSigt™Oncology 500 kit applied construct genomic libraries for Next Generation Sequencing (NGS) analysis. The Illumina NovaSeq 6000 technological platform TruSight Oncology bioinformatics pipeline were analyze...