A5029914972- Epigenetics and DNA Methylation
- Lung Cancer Research Studies
- Neuroendocrine Tumor Research Advances
- Lung Cancer Treatments and Mutations
- Neuroblastoma Research and Treatments
- Glutathione Transferases and Polymorphisms
- Genomics, phytochemicals, and oxidative stress
- Histone Deacetylase Inhibitors Research
- Cancer-related gene regulation
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- MicroRNA in disease regulation
- Glioma Diagnosis and Treatment
- Dementia and Cognitive Impairment Research
- Renal and related cancers
- Renal cell carcinoma treatment
- Metastasis and carcinoma case studies
- Cerebrovascular and Carotid Artery Diseases
- Neurological Disorders and Treatments
- Fibroblast Growth Factor Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Medical Imaging and Pathology Studies
- Gene expression and cancer classification
- Folate and B Vitamins Research
- Cardiovascular Health and Disease Prevention
Casa Sollievo della Sofferenza
2015-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2025
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
2014
Max Planck Institute for Metabolism Research
2014
University Hospital Cologne
2014
Max Planck Institute for Molecular Genetics
2014
Integrated Oncology (United States)
2014
University of Cologne
2014
University of Foggia
2013
We discovered a novel somatic gene fusion, CD74-NRG1, by transcriptome sequencing of 25 lung adenocarcinomas never smokers. By screening 102 negative for known oncogenic alterations, we found four additional fusion-positive tumors, all which were the invasive mucinous subtype. Mechanistically, CD74-NRG1 leads to extracellular expression EGF-like domain NRG1 III-β3, thereby providing ligand ERBB2-ERBB3 receptor complexes. Accordingly, ERBB2 and ERBB3 was high in index case, phospho-ERBB3...
The KEAP1/Nrf2 pathway is a master regulator of several redox-sensitive genes implicated in resistance tumor cells against chemotherapeutic drugs. Recent data suggest that epigenetic mechanisms may play pivotal role the regulation KEAP1 expression. We performed comprehensive genetic and analysis gene 47 non-small cell lung cancer tissues normal specimens. Promoter methylation was using quantitative specific PCR assay real time. Methylation at promoter region detected 22 out NSCLCs (47%) none...
In light with the view that KEAP1 loss of function may impact tumour behavior and modify response to chemotherapeutical agents, we sought determine whether gene is epigenetically regulated in malignant gliomas. We developed a Quantitative Methylation Specific PCR (QMSP) assay analyze 86 gliomas 20 normal brain tissues. The discriminatory power was assessed by Receiving Operating Characteristics (ROC) curve analysis. AUC value 0.823 (95%CI: 0.764-0.883) an optimal cut off 0.133 yielding 74%...
Keap1 (Kelch-like ECH-associated protein 1) is an adaptor that mediates the ubiquitination/degradation of genes regulating cell survival and apoptosis under oxidative stress conditions. We determined methylation status KEAP1 promoter in 102 primary breast cancers, 14 pre-invasive lesions, 38 paired normal tissues 6 from reductive mammoplasty by quantitative specific PCR (QMSP). Aberrant was detected 52 out cancer cases (51%) 10 lesions (71%). No mutations gene were identified 20 analyzed...
The Keap1/Nrf2 pathway is a master regulator of the cellular redox state through induction several antioxidant defence genes implicated in chemotherapeutic drugs resistance tumor cells. An increasing body evidence supports key role for kidney diseases and renal cell carcinoma (RCC), but data concerning molecular basis clinical effect its deregulation remain incomplete.Here we present profiling KEAP1 NFE2L2 five different Renal Cell Carcinoma histotypes by analysing 89 tumor/normal paired...
Hyperparathyroidism Jaw-Tumour Syndrome (HPT-JT) is characterized by primary hyperparathyroidism (PHPT), maxillary/mandible ossifying fibromas and parathyroid carcinoma in 15% of cases. Inactivating mutations the tumour suppressor CDC73/HRPT2 gene have been found HPT-JT patients also as genetic determinants sporadic carcinoma/atypical adenomas and, rarely, typical adenomas, familial PHPT. Here we report molecular analysis three affected PHPT due to atypical one case belonging Flag-tagged WT...
Background. The KEAP1/NRF2 pathway has been widely investigated in tumors since it was implicated cancer cells survival and therapies resistance. In lung the deregulation of this is mainly related to point mutations KEAP1 NFE2L2 genes promoter hypermethylation, but these two have rarely low/intermediate grade neuroendocrine lung. Methods. effects silencing on NRF2 activity H720 H727 carcinoid cell lines results were compared with those obtained by molecular profiling a collection 47...
The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the CDC73 gene: it has been suggested that early onset disease and high Ca2+ levels may predict presence a mutation. We searched for large deletions at locus in patients with: HPT-JT (nr 2), atypical adenoma 7) or sporadic parathyroid carcinoma 11) specific MLPA qRT-PCR assays applied on DNA extracted from whole blood. A Medline search database all papers reporting gene mutation, clinical/histological diagnosis, age...
The silencing of SPARC (secreted protein acid and rich in cysteine) gene through methylation its promoter region represents a common event many solid tumors it is frequently associated with tumor progression an aggressive clinical outcome. Anyhow, the data concerning epigenetic mechanism deregulation prognostic value lung cancer are still incomplete. We explored aberrant effects 4 non-small cell (NSCLC) lines 59 NSCLC tissues correlated levels clinical-pathological features disease outcome...
Capillary hemangioblastomas (HGBs) of the CNS occur either sporadically or as part von Hippel-Lindau (VHL) syndrome. Molecular characterizations VHL gene in sporadic HGBs at somatic level have been limited to date. We investigated 57 patients most whom (55 [96%] 57) had a solitary HGB time surgery. Tissues from 23 these (2 related and 21 unrelated) were also genetic epigenetic levels. Two 51 with apparently no additional evidence (∼4%) found germline mutation; both subsequently developed...
Background and aim: Lack of cultural adaptation may risk or worsen mental illness among immigrants, interfere with assessment treatment. Language proficiency (LP) seems essential for access to foreign environments, the limited research concerning its effects on health care encouraged this preliminary study. Methods: We reviewed clinical records all immigrant psychiatric patients hospitalized at University Foggia in 2004–09 ( N = 85), compared characteristics adequate versus inadequate LP....
Disturbances in the epigenetic landscape by aberrant methylation of CpG islands can lead to inactivation cancer-related genes solid tumors. We analyzed promoter status 6 previously reported as cancer-specific methylated (MCAM, SSBP2, NISCH, B4GALT1, KIF1A and RASSF1A) 38 neural crest-derived tumors quantitative methylation-specific real-time PCR (QMSP). The results demonstrated that determination RASSF1A is able distinguish between normal tumor samples cutaneous melanomas, lung carcinoids...
Glioblastoma multiforme (World Health Organization, grade IV astrocytoma) is the most common and aggressive malignant primary brain tumor. We report a novel cell line, designated as ANGM-CSS, which was established from 56-year-old male patient with surgically removed glioblastoma multiforme. The ANGM-CSS line in vitro characterized using histological immunohistochemical staining, classical molecular cytogenetic analyses, studies functional assays xenograft model immunodeficient animals....
The aims of this study were to analyze prevalence and severity vascular risk factors in older patients referred our clinic due onset Very Late-Onset Schizophrenia-Like Psychosis (VLOSLP) create a specific phenotype based on pathophysiological insight rather than age onset. In longitudinal study, 103 (M = 39, F 64; mean 80.32 ± 7.65 years) evaluated with cognitive, neuropsychiatric, functional assessment scales. Blood concentration hemoglobin (Hb), corpuscular volume (MCV), platelets, total...
Inflammatory myofibroblastic tumors (IMT) in the head and neck region are rare neoplasms that generally mimic benign/low-grade neoplasms. Overexpression of anaplastic lymphoma kinase (ALK) has been reported 50% IMT cases, secondary to ALK activation by structural rearrangements gene, which results a fusion protein with echinoderm microtubule associated like 4 (EML4) ~20% cases. The present study describes case 74-year-old woman malignant right posterior hypopharynx harboring previously...
Alzheimer's disease (AD) is the most common cause of dementia worldwide. The clinical spectrum suspected AD has been extended from mild cognitive impairment (MCI) to preclinical which includes people who have typical function but harbor underlying biological features AD. We report first case an Italian patient affected by MCI (MMSE 24\30), characterized a double mutation p.Lys311Arg (K311R) and p.Glu318Gly (E318G) in Presenilin-1 with absence abnormal accumulation amyloid beta.
Clear cell renal carcinoma (ccRCC) is the most common malignant neoplasm of kidney and belongs to few human tumors known develop from mutations VHL tumor suppressor gene. germline are associated with hereditary ccRCCs in disease. However, somatic gene defects may also occur sporadic ccRCCs. In this study, we analyzed frequency spectrum alterations 35 Italian patients (RCC). Tumor-specific intragenic pathogenic were detected 38% (11/29) ccRCC 33% (2/6) other types RCC. One novel 18-bp...
Background: The study aimed to identify Mild Cognitive Impairment (MCI) as an alert clinical manifestation of increased probability major acute vascular events (MVEs), such Ischemic Stroke and heart attack. Methods: In a longitudinal study, 181 (M = 81, F 100; mean age 75.8 ± 8.69 years) patients were enrolled divided into three groups based on diagnosis: Subjective (SCI), amnestic MCI Single Domain (aMCI-SD), More (aMCI-MD). Clinical assessment the presence risk factors collected. Results:...