0000000000324128

AUTHOR

Giancarlo Troncone

showing 7 related works from this author

BRAF as a positive predictive biomarker: Focus on lung cancer and melanoma patients

2020

In the era of personalized medicine, BRAF mutational assessment is mandatory in advanced-stage melanoma and non-small cell lung cancer (NSCLC) patients. The identification of actionable mutations is crucial for the adequate management of these patients. To date various drugs have been implemented in clinical practice. Similarly, various methods may be adopted for the identification of BRAF mutations. Here, we briefly review the current literature on BRAF in melanoma and NSCLC, focusing attention in particular on the different methods and drugs adopted in these patients. In addition, an overview of the real-world practice in different Italian laboratories with high expertise in molecular pre…

0301 basic medicineOncologyProto-Oncogene Proteins B-rafmedicine.medical_specialtyPredictive molecular pathologyLung NeoplasmsGene mutationBRAF03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineCarcinoma Non-Small-Cell LungMedicineHumansNon-Small-Cell LungVemurafenibLung cancerneoplasmsMelanomaTrametinibCobimetinibbusiness.industryBRAF; Lung cancer; Melanoma; Precision medicine; Predictive molecular pathology; Biomarkers; Humans; Mutation; Proto-Oncogene Proteins B-raf; Carcinoma Non-Small-Cell Lung; Lung Neoplasms; MelanomaCarcinomaPrecision medicineDabrafenibHematologyBiomarkerPrecision medicinemedicine.diseaseBRAF; Lung cancer; Melanoma; Precision medicine; Predictive molecular pathologyLung Neoplasm030104 developmental biologyOncologychemistry030220 oncology & carcinogenesisMutationPersonalized medicineLung cancerbusinessBiomarkersmedicine.drugHuman
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The significance of epidermal growth factor receptor uncommon mutations in non-small cell lung cancer: A systematic review and critical appraisal

2020

Uncommon epidermal growth factor receptor (EGFR) mutations collectively account for 10% of EGFR mutations, harboring heterogeneous molecular alterations within exons 18-21 with clinically variable responses to EGFR tyrosine kinase inhibitors (TKIs) in advanced Non-Small Cell Lung Cancer (NSCLC) patients. In addition, with the introduction of different NGS gene approach an improvement of EGFR mutations detection was reported. Today, no specific studies have prospectively evaluated uncommon sensitizing mutations in detail and no firm standard of care has been established in the first-line setting. The aim of this comprehensive review is to critically consider the clinical role of uncommon EGF…

0301 basic medicineMaleLung NeoplasmsPrognosiEGFRProtein Kinase Inhibitormedicine.disease_causeNSCLC03 medical and health sciencesExonErbB Receptors0302 clinical medicineCarcinoma Non-Small-Cell LungmedicineCarcinomaHumansRadiology Nuclear Medicine and imagingEpidermal growth factor receptorErbB ReceptorLung cancerGeneProtein Kinase InhibitorsRegulation of gene expressionMutationbiologybusiness.industryGeneral Medicinemedicine.diseasePrognosisTKIUncommon mutationErbB ReceptorsGene Expression Regulation NeoplasticLung Neoplasm030104 developmental biologyTreatment OutcomeOncology030220 oncology & carcinogenesisNGSMutationCancer researchbiology.proteinSystematic reviewFemalebusinessHuman
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TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: An international performance evaluation study

2021

AimNext generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow.MethodsThe TargetPlex FFPE-Direct DNA Libr…

0301 basic medicineLibraryComputer scienceGenomicsComputational biologylung neoplasmsDNA sequencingPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineHumansmolecular biologymolecularbiomarkers; lung neoplasms; molecular; molecular biology; pathology; tumourGene LibraryParaffin EmbeddingtumourSireClinical performancebiomarkersHigh-Throughput Nucleotide SequencingGeneral MedicineGenomicsDNA extractionParaffin embeddedlung neoplasm030104 developmental biologyWorkflow030220 oncology & carcinogenesisMutationbiomarkerpathology
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KRAS mutations testing in non-small cell lung cancer: the role of Liquid biopsy in the basal setting

2020

In advanced stage non-small cell lung cancer (NSCLC) patients, Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) testing may soon acquire a predictive significance to select patients for AMG510 treatment. Since tissue samples are not always available, liquid biopsy may represent a viable option for KRAS testing. Here, we review the last three years clinical practice performed on 194 plasma based liquid biopsies by next generation sequencing (NGS) SiRe(®) panel. In particular, 36 (18.6%) KRAS mutated cases were identified, with an overall median allelic frequency of 5.0% (ranging between 0.2% and 46.8%). No concomitant mutations were observed in the other NSCLC clinical relevant genes includ…

0301 basic medicinePulmonary and Respiratory MedicineAMG510Settore MED/06 - Oncologia MedicaViral Oncogenemedicine.disease_cause03 medical and health sciencesBasal (phylogenetics)0302 clinical medicineG12CMedicineEpidermal growth factor receptorLiquid biopsyLung cancerneoplasmsMutationbiologyLiquid biopsybusiness.industryKirsten Rat Sarcoma Viral Oncogene Homolog (KRAS)Review Article on Improving Outcomes in Lung Cancer Through Early Diagnosis and Smoking Cessationmedicine.diseaseBasal setting030104 developmental biologyNext generation sequencing (NGS)030220 oncology & carcinogenesisCancer researchbiology.proteinBiomarker (medicine)KRASLung cancerbusiness
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Next generation diagnostic algorithm in non-small cell lung cancer predictive molecular pathology: The KWAY Italian multicenter cost evaluation study

2022

Abstract Aims The KWAY project aims to investigate the economic sustainability of the up-front NGS technologies adoption in the analysis of clinically relevant molecular alterations in NSCLC patients. Methods The diagnostic workflow and the related sustained costs of five Italian referral centers were assessed in four different evolving scenarios were analyzed. For each scenario, two alternative testing strategies were evaluated: the Maximized Standard strategy and the Maximized NGS strategy. Results For each center, the robustness of obtained results was verified through a deterministic sensitivity analysis, observing the variation of total costs based on a variation of ±20 % of the input …

Predictive molecular pathologyLung NeoplasmsTotal costCostCost; NGS; NSCLC; Predictive molecular pathology; Single-gene test; Algorithms; High-Throughput Nucleotide Sequencing; Humans; Italy; Multicenter Studies as Topic; Carcinoma Non-Small-Cell Lung; Lung NeoplasmsNSCLCRobustness (computer science)Carcinoma Non-Small-Cell LungCost evaluationMedicineHumansMulticenter Studies as TopicNon-Small-Cell LungMolecular pathologybusiness.industryCarcinomaHigh-Throughput Nucleotide SequencingHematologyReliability engineeringWorkflowOncologyEconomic sustainabilityItalyNGSSingle-gene testNon small cellbusinessAlgorithms
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Tumor mutational burden on cytological samples: A pilot study.

2020

Background Immune-checkpoint inhibitors (ICIs) represent an important treatment option for patients who have advanced stage non-small cell lung cancer (NSCLC). Currently, evaluation of the expression level of programmed death-ligand 1 (PD-L1) has proven highly successful as a positive predictive biomarker for ICIs. In addition to PD-L1, other promising predictive biomarkers are emerging, including high tumor mutational burden (TMB-H). However, measuring TMB-H remains challenging for several reasons, among which is the difficulty in obtaining adequate tissue material from NSCLC patients. There are no data in the current literature regarding the possibility of adopting cell blocks (CBs) for T…

OncologyMaleCancer Researchmedicine.medical_specialtyLung NeoplasmsCytological TechniquesDNA Mutational Analysis030209 endocrinology & metabolismPilot Projects03 medical and health sciences0302 clinical medicineInternal medicineCarcinoma Non-Small-Cell LungmedicineBiomarkers TumorHumansLung cancerPredictive biomarkerAgedRetrospective Studiesnext generation sequencingTMBbusiness.industryAdvanced stageTreatment optionsHigh-Throughput Nucleotide SequencingIon semiconductor sequencingAmpliconmedicine.diseasePrognosislung cancerOncology030220 oncology & carcinogenesisMutationcytologyTissue materialFemaleimmunotherapyNon small cellbusinessFollow-Up StudiesCancer cytopathologyReferences
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The molecular profiling of solid tumors by liquid biopsy: a position paper of the AIOM–SIAPEC-IAP–SIBioC–SIC–SIF Italian Scientific Societies

2021

The term liquid biopsy (LB) refers to the use of various biological fluids as a surrogate for neoplastic tissue to achieve information for diagnostic, prognostic and predictive purposes. In the current clinical practice, LB is used for the identification of driver mutations in circulating tumor DNA derived from both tumor tissue and circulating neoplastic cells. As suggested by a growing body of evidence, however, there are several clinical settings where biological samples other than tissue could be used in the routine practice to identify potentially predictive biomarkers of either response or resistance to targeted treatments. New applications are emerging as useful clinical tools, and o…

Societies ScientificCancer ResearchContext (language use)ReviewNeoplastic CellsBioinformaticsCirculating tumor cellCirculatingBiomarkers TumorMedicineHumansDigital polymerase chain reactionLiquid biopsycfDNAcirculating tumor DNAcfDNA; circulating cell-free DNA; circulating tumor DNA; ctDNA; digital PCR; liquid biopsy; next-generation sequencing; real-time PCRTumorCirculating Neoplastic Cellsliquid biopsybusiness.industrydigital PCRScientificctDNAcirculating cell-free DNANeoplastic Cells CirculatingCirculating Cell-Free DNAcfDNA; circulating cell-free DNA; circulating tumor DNA; ctDNA; digital PCR; liquid biopsy; next-generation sequencing; real-time PCR; Biomarkers Tumor; Humans; Italy; Liquid Biopsy; Neoplastic Cells Circulating; Societies ScientificOncologyItalyCirculating tumor DNAPosition papernext-generation sequencingSocietiesbusinessreal-time PCRBiomarkersHuman
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