Lucia Anna Muscarella
A5036881691- Lung Cancer Treatments and Mutations
- Lung Cancer Research Studies
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Neuroendocrine Tumor Research Advances
- Neuroblastoma Research and Treatments
- RNA modifications and cancer
- Genomics, phytochemicals, and oxidative stress
- HER2/EGFR in Cancer Research
- Parathyroid Disorders and Treatments
- Glutathione Transferases and Polymorphisms
- MicroRNA in disease regulation
- Genetic Syndromes and Imprinting
- Fibroblast Growth Factor Research
- Cancer, Hypoxia, and Metabolism
- Pancreatic and Hepatic Oncology Research
- Circadian rhythm and melatonin
- Stress Responses and Cortisol
- Lung Cancer Diagnosis and Treatment
- Cancer-related gene regulation
- Autism Spectrum Disorder Research
- Peptidase Inhibition and Analysis
- Growth Hormone and Insulin-like Growth Factors
- Renal cell carcinoma treatment
- Histone Deacetylase Inhibitors Research
Casa Sollievo della Sofferenza
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
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
Hospital de Sant Pau
2013
Institut d'Investigació Biomédica de Bellvitge
2013
Non-small-cell lung cancer (NSCLC) is a tumor in which only small improvements clinical outcome have been achieved. The issue critical for stage I patients whom there are no available biomarkers that indicate high-risk should receive adjuvant chemotherapy. We aimed to find DNA methylation markers could be helpful this regard.A microarray analyzes 450,000 CpG sites was used study tumoral obtained from 444 with NSCLC included 237 tumors. prognostic were validated by single-methylation...
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...
Abstract The worldwide incidence of pulmonary carcinoids is increasing, but little known about their molecular characteristics. Through machine learning and multi-omics factor analysis, we compare contrast the genomic profiles 116 (including 35 atypical), 75 large-cell neuroendocrine carcinomas (LCNEC), 66 small-cell lung cancers. Here report that integrative analyses on 257 neoplasms stratify atypical into two prognostic groups with a 10-year overall survival 88% 27%, respectively. We...
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...
Abstract Blood ionized calcium (iCa) is a quantitative trait subject to genetic influence. iCa maintained in narrow range through the action of calcium-sensing receptor (CASR) controlling PTH secretion and excretion. A CASR single nucleotide polymorphism (SNP) prevalent Caucasian populations (A986S) has shown significant association with cohort young women, but neighboring SNPs, R990G Q1011E, not been examined. We studied 377 unrelated adults (184 men 193 women) recruited as healthy from...
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...
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Mutations of the HRPT2 gene have recently been implicated in development parathyroid carcinoma.The objective this study was early diagnosis tumor a family with germline mutation.In 40-yr-old male previously treated for atypical adenoma, we screened 17 translated exons and their exon-intron boundaries found frameshift mutation exon 7 (685delAGAG) predicting premature stop codon at nucleotides 767-769. Nine members (age, 33.9 +/- 19.8 yr, mean SD) also carry mutation, but eight had normal...
Three single-nucleotide polymorphisms in the calcium-sensing receptor gene (CASR) encoding missense substitutions A986S, R990G, and Q1011E have been associated with normal variation extracellular calcium homeostasis, both individually haplotype combination. The aim of this study was to examine associations primary hyperparathyroidism (PHPT).Patients sporadic PHPT (n = 237) were recruited from endocrine clinics healthy controls 433) a blood donor clinic, levels serum calcium, albumin, PTH...
Inactivating mutations of the calcium-sensing receptor (CASR) are implicated in different hypercalcemic syndromes, including familial hypocalciuric hypercalcemia (FHH), primary hyperparathyroidism (PHPT), and isolated (FIHP). However, molecular diagnostics applied to large nonselected cohorts from a single center have not been reported.Our objective was describe prevalence, type, potential pathogenicity CASR series cases with FHH (n = 17), PHPT 165), FIHP 3) controls 198) presenting at...
Neuregulin 1 (NRG1) fusions, which activate ErbB signaling, are rare oncogenic drivers in multiple tumor types. Afatinib is a pan-ErbB family inhibitor that may be an effective treatment for NRG1 fusion-driven tumors.
Background/Objectives: The identification of driver mutations in NSCLC such as those the EGFR and KRAS genes has revolutionized understanding management many lung cancer patients opened up a new scenario early disease stages terms therapeutic options (EGFR) prognosis (KRAS). Data on prevalence rates stage distributions surgically resected are growing, but Southern Italy, estimation is limited, since upfront testing early-stage adenocarcinoma been only recently introduced according to current...
Hemangioblastomas of the central nervous system (CNS) are benign neoplasms that may occur sporadically or in association with von Hippel-Lindau (VHL) disease. The proportion primary symptomatic hemangioblastomas associated VHL disease is estimated to be from 10 40%, but it seems underestimated. We investigated frequency germline mutation patients CNS hemangioblastoma without evidence define role molecular genetic analysis management such and their relatives.We analyzed 14 (6 female 8 male;...