Search

Your search keyword '"Baldini, F."' showing total 642 results
Start Over Author "Baldini, F."
642 results on '"Baldini, F."'

1. Albumin-Based Optical and Electrochemical Biosensors for PFAS Detection: A Comparison

Author

Moro, G., Chiavaioli, F., Zubiate, P., Del Villar, I., Baldini, F., De Wael, K., Moretto, L. M., Giannetti, A., Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Di Francia, Girolamo, editor, and Di Natale, Corrado, editor

Published
2023
Full Text
View/download PDF

2. Lossy Mode Resonance Enabling Ultra-Low Detection Limit for Fibre-Optic Biosensors (INVITED)

Author

Chiavaioli, F., Giannetti, A., Tombelli, S., Trono, C., Del Villar, I., Matias, I. R., Zubiate, P., Zamarreño, C. R., Arregui, F. J., Baldini, F., Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Hirche, Sandra, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Möller, Sebastian, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zhang, Junjie James, Series Editor, Di Francia, G., editor, Di Natale, C., editor, Alfano, B., editor, De Vito, S., editor, Esposito, E., editor, Fattoruso, G., editor, Formisano, F., editor, Massera, E., editor, Miglietta, M. L., editor, and Polichetti, T., editor

Published
2020
Full Text
View/download PDF

3. Genetic Alterations of Melanoma Brain Metastases: A Systematic Review and Meta-Analysis

Author

Pala, L, Bagnardi, V, Tettamanzi, F, Barberis, M, Mazzarol, G, Casali, C, De Pas, T, Pennacchioli, E, Coppola, S, Baldini, F, Cocorocchio, E, Ferrucci, P, Patane', D, Saponara, M, Queirolo, P, Conforti, F, Pala L., Bagnardi V., Tettamanzi F., Barberis M., Mazzarol G., Casali C., De Pas T., Pennacchioli E., Coppola S., Baldini F., Cocorocchio E., Ferrucci P., Patane' D., Saponara M., Queirolo P., Conforti F., Pala, L, Bagnardi, V, Tettamanzi, F, Barberis, M, Mazzarol, G, Casali, C, De Pas, T, Pennacchioli, E, Coppola, S, Baldini, F, Cocorocchio, E, Ferrucci, P, Patane', D, Saponara, M, Queirolo, P, Conforti, F, Pala L., Bagnardi V., Tettamanzi F., Barberis M., Mazzarol G., Casali C., De Pas T., Pennacchioli E., Coppola S., Baldini F., Cocorocchio E., Ferrucci P., Patane' D., Saponara M., Queirolo P., and Conforti F.

Abstract

Background: Data on molecular alterations harbored by melanoma brain metastases (MBMs) are limited, and this has hampered the development of more effective therapeutic strategies. We conducted a systematic review and meta-analysis of all the studies reporting DNA sequencing data of MBMs, in order to identify recurrently mutated genes and molecular pathways significantly enriched for genetic alterations. Methods: We searched PubMed, Embase and Scopus for articles published from the inception of each database to June 30, 2021. We included in the analysis all the studies that reported individual patient data on DNA sequencing of MBMs, assessing single nucleotide variants (SNVs) and/or gene copy number variations (CNVs) in at least five tumor samples. Meta-analysis was performed for genes evaluated for SNVs and/or CNVs in at least two studies. Pooled proportions of samples with SNVs and/or CNVs was calculated by applying random-effect models based on the DerSimonian–Laird method. Gene-set enrichment analysis (GSEA) was performed to identify molecular pathways significantly enriched for mutated genes. Results: Ten studies fulfilled the inclusion criteria and were included in the analysis, for a total of 531 samples of MBMs evaluated. Twenty-seven genes were found recurrently mutated with a meta-analytic rate of SNVs higher than 5%. GSEA conducted on the list of these 27 recurrently mutated genes revealed vascular endothelial growth factor-activated receptor activity and transmembrane receptor protein tyrosine kinase activity to be among the top 10 gene ontology (GO) molecular functions significantly enriched for mutated genes, while regulation of apoptosis and cell proliferation were among the top 10 significantly enriched GO biological processes. Notably, a high meta-analytic rate of SNVs was found in several actionable cancer-associated genes, such as all the vascular endothelial growth factor (VEGF) receptor isoforms (i.e., Flt1 and Flt2 genes, for both SNV rate: 0.22

Published
2023

9. Fluorescence sensing and intravascular microdialysis for personalised medicine: The case of immunosuppressants in transplanted patients (Conference Presentation)

Author

Baldini, F., primary, Tombelli, S., additional, Trono, C., additional, Berneschi, S., additional, Giannetti, A., additional, Bernini, R., additional, Persichetti, G., additional, Testa, G., additional, Orellana, G., additional, Salis, F., additional, Weber, S., additional, Luppa, P. B., additional, Porro, G., additional, Quartu, G., additional, Schubert, M. B., additional, Berner, M., additional, Becker, H., additional, Gärtner, C., additional, and O'Connell, M. T., additional

Published
2023
Full Text
View/download PDF

12. Photonic Crystal Optofluidic Silicon Microsystems for (Bio)Sensing

Author

Surdo, S., Carpignano, F., Giannetti, A., Strambini, L. M., Trono, C., Baldini, F., Merlo, S., Barillaro, G., Baldini, Francesco, editor, D’Amico, Arnaldo, editor, Di Natale, Corrado, editor, Siciliano, Pietro, editor, Seeber, Renato, editor, De Stefano, Luca, editor, Bizzarri, Ranieri, editor, and Andò, Bruno, editor

Published
2014
Full Text
View/download PDF

14. Intracellular Nanosensing and Nanodelivery by PMMA Nanoparticles

Author

Giannetti, A., Baldini, F., Ballestri, M., Ghini, G., Giambastiani, G., Guerrini, A., Sotgiu, G., Tombelli, S., Trono, C., Tuci, G., Varchi, G., Baldini, Francesco, editor, D’Amico, Arnaldo, editor, Di Natale, Corrado, editor, Siciliano, Pietro, editor, Seeber, Renato, editor, De Stefano, Luca, editor, Bizzarri, Ranieri, editor, and Andò, Bruno, editor

Published
2014
Full Text
View/download PDF

15. Ocular involvement in monkeypox: Description of an unusual presentation during the current outbreak

Author

Mazzotta, V, primary, Mondi, A, additional, Carletti, F, additional, Baldini, F, additional, Santoro, R, additional, Meschi, S, additional, Moccione, M, additional, Gebremeskel Teklè, S, additional, Minosse, C, additional, Camici, M, additional, Vita, S, additional, Matusali, G, additional, Nicastri, E, additional, Girardi, E, additional, Maggi, F, additional, Vaia, F, additional, Antinori, A, additional, and Pinnetti, C, additional

Published
2022
Full Text
View/download PDF

27. Prophylactic heparin and risk of orotracheal intubation or death in patients with mild or moderate COVID-19 pneumonia

Author

Vergori, A., Lorenzini, P., Cozzi-Lepri, A., Donno, D. R., Gualano, G., Nicastri, E., Iacomi, F., Marchioni, L., Campioni, P., Schinina, V., Cicalini, S., Agrati, C., Capobianchi, M. R., Girardi, E., Ippolito, G., Vaia, F., Petrosillo, N., Antinori, A., Taglietti, F., The ReCOVeRI Study Group: Abbonizio, M. A., Abdeddaim, A., Agostini, E., Albarello, F., Amadei, G., Amendola, A., Antonica, M. A., Antonini, M., Bartoli, T. A., Baldini, F., Barbaro, R., Bartolini, B., Bellagamba, R., Benigni, M., Bevilacqua, N., Biava, G., Bibas, M., Bordi, L., Bordoni, V., Boumis, E., Branca, M., Buonomo, R., Busso, D., Camici, M., Canichella, F., Capone, A., Caporale, C., Caraffa, E., Caravella, I., Carletti, F., Castilletti, C., Cataldo, A., Cerilli, S., Cerva, C., Chiappini, R., Chinello, P., Cianfarani, M. A., Ciaralli, C., Cimaglia, C., Cinicola, N., Ciotti, V., Colavita, F., Corpolongo, A., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., De Angelis, A., De Angelis, G., De Palo, M. G., De Zottis, F., Di Bari, V., Di Lorenzo, R., Di Stefano, F., D'Offizi, G., Evangelista, F., Faraglia, F., Farina, A., Ferraro, F., Fiorentini, L., Frustaci, A., Fusetti, M., Fusto, M., Galati, V., Gagliardini, R., Galli, P., Garotto, G., Gaviano, I., Tekle, S. G., Giancola, M. L., Giansante, F., Giombini, E., Granata, G., Greci, M. C., Grilli, E., Grisetti, S., Iaconi, M., Iannicelli, G., Inversi, C., Lalle, E., Lamanna, M. E., Lanini, S., Lapa, D., Lepore, L., Libertone, R., Lionetti, R., Liuzzi, G., Loiacono, L., Lucia, A., Lufrani, F., Macchione, M., Maffongelli, G., Marani, A., Mariano, A., Marini, M. C., Maritti, M., Mastrobattista, A., Mastrorosa, I., Matusali, G., Mazzotta, V., Mencarini, P., Meschi, S., Messina, F., Micarelli, S., Mogavero, G., Mondi, A., Montalbano, M., Montaldo, C., Mosti, S., Murachelli, S., Musso, M., Nardi, M., Navarra, A., Nocioni, M., Noto, P., Noto, R., Oliva, A., Onnis, I., Ottou, S., Palazzolo, C., Pallini, E., Palmieri, F., Palombi, G., Pareo, C., Passeri, V., Pelliccioni, F., Penna, G., Petrecchia, A., Petrone, A., Pianura, E., Pinnetti, C., Pisciotta, M., Piselli, P., Pittalis, S., Pontarelli, A., Proietti, C., Puro, V., Ramazzini, P. M., Rianda, A., Rinonapoli, G., Rosati, S., Rubino, D., Rueca, M., Ruggeri, A., Sacchi, A., Sampaolesi, A., Sanasi, F., Santagata, C., Scarabello, A., Scarcia, S., Scognamiglio, P., Scorzolini, L., Stazi, G., Strano, G., Taibi, C., Taloni, G., Nardi, T., Tonnarini, R., Topino, S., Tozzi, M., Vairo, F., Valli, M. B., Vincenzi, L., Visco-Comandini, U., Vita, S., Vittozzi, P., Zaccarelli, M., Zanetti, A., Zito, S., Vergori, A., Lorenzini, P., Cozzi-Lepri, A., Donno, D. R., Gualano, G., Nicastri, E., Iacomi, F., Marchioni, L., Campioni, P., Schinina, V., Cicalini, S., Agrati, C., Capobianchi, M. R., Girardi, E., Ippolito, G., Vaia, F., Petrosillo, N., Antinori, A., Taglietti, F., Abbonizio, M. A., Abdeddaim, A., Agostini, E., Albarello, F., Amadei, G., Amendola, A., Antonica, M. A., Antonini, M., Bartoli, T. A., Baldini, F., Barbaro, R., Bartolini, B., Bellagamba, R., Benigni, M., Bevilacqua, N., Biava, G., Bibas, M., Bordi, L., Bordoni, V., Boumis, E., Branca, M., Buonomo, R., Busso, D., Camici, M., Canichella, F., Capone, A., Caporale, C., Caraffa, E., Caravella, I., Carletti, F., Castilletti, C., Cataldo, A., Cerilli, S., Cerva, C., Chiappini, R., Chinello, P., Cianfarani, M. A., Ciaralli, C., Cimaglia, C., Cinicola, N., Ciotti, V., Colavita, F., Corpolongo, A., Cristofaro, M., Curiale, S., D'Abramo, A., Dantimi, C., De Angelis, A., De Angelis, G., De Palo, M. G., De Zottis, F., Di Bari, V., Di Lorenzo, R., Di Stefano, F., D'Offizi, G., Evangelista, F., Faraglia, F., Farina, A., Ferraro, F., Fiorentini, L., Frustaci, A., Fusetti, M., Fusto, M., Galati, V., Gagliardini, R., Galli, P., Garotto, G., Gaviano, I., Tekle, S. G., Giancola, M. L., Giansante, F., Giombini, E., Granata, G., Greci, M. C., Grilli, E., Grisetti, S., Iaconi, M., Iannicelli, G., Inversi, C., Lalle, E., Lamanna, M. E., Lanini, S., Lapa, D., Lepore, L., Libertone, R., Lionetti, R., Liuzzi, G., Loiacono, L., Lucia, A., Lufrani, F., Macchione, M., Maffongelli, G., Marani, A., Mariano, A., Marini, M. C., Maritti, M., Mastrobattista, A., Mastrorosa, I., Matusali, G., Mazzotta, V., Mencarini, P., Meschi, S., Messina, F., Micarelli, S., Mogavero, G., Mondi, A., Montalbano, M., Montaldo, C., Mosti, S., Murachelli, S., Musso, M., Nardi, M., Navarra, A., Nocioni, M., Noto, P., Noto, R., Oliva, A., Onnis, I., Ottou, S., Palazzolo, C., Pallini, E., Palmieri, F., Palombi, G., Pareo, C., Passeri, V., Pelliccioni, F., Penna, G., Petrecchia, A., Petrone, A., Pianura, E., Pinnetti, C., Pisciotta, M., Piselli, P., Pittalis, S., Pontarelli, A., Proietti, C., Puro, V., Ramazzini, P. M., Rianda, A., Rinonapoli, G., Rosati, S., Rubino, D., Rueca, M., Ruggeri, A., Sacchi, A., Sampaolesi, A., Sanasi, F., Santagata, C., Scarabello, A., Scarcia, S., Scognamiglio, P., Scorzolini, L., Stazi, G., Strano, G., Taibi, C., Taloni, G., Nardi, T., Tonnarini, R., Topino, S., Tozzi, M., Vairo, F., Valli, M. B., Vincenzi, L., Visco-Comandini, U., Vita, S., Vittozzi, P., Zaccarelli, M., Zanetti, A., and Zito, S.

Subjects
Male, medicine.medical_treatment, Rome, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Severity of Illness Index, 0302 clinical medicine, Retrospective Studie, Coagulopathy, Clinical endpoint, Intubation, Respiratory function, 030212 general & internal medicine, Multidisciplinary, Middle Aged, Medicine, Female, Human, medicine.medical_specialty, Patients, medicine.drug_class, Science, Low molecular weight heparin, Risk Assessment, Article, NO, 03 medical and health sciences, Internal medicine, Severity of illness, medicine, Intubation, Intratracheal, Humans, Retrospective Studies, Aged, business.industry, SARS-CoV-2, COVID-19, Thrombocytopenia, Retrospective cohort study, Heparin, Low-Molecular-Weight, medicine.disease, Respiration, Artificial, COVID-19 Drug Treatment, respiratory tract diseases, Pneumonia, Viral infection, business
Abstract

Prophylactic low molecular weight heparin (pLMWH) is currently recommended in COVID-19 to reduce the risk of coagulopathy. The aim of this study was to evaluate whether the antinflammatory effects of pLMWH could translate in lower rate of clinical progression in patients with COVID-19 pneumonia. Patients admitted to a COVID-hospital in Rome with SARS-CoV-2 infection and mild/moderate pneumonia were retrospectively evaluated. The primary endpoint was the time from hospital admission to orotracheal intubation/death (OTI/death). A total of 449 patients were included: 39% female, median age 63 (IQR, 50–77) years. The estimated probability of OTI/death for patients receiving pLMWH was: 9.5% (95% CI 3.2–26.4) by day 20 in those not receiving pLMWH vs. 10.4% (6.7–15.9) in those exposed to pLMWH; p-value = 0.144. This risk associated with the use of pLMWH appeared to vary by PaO2/FiO2 ratio: aHR 1.40 (95% CI 0.51–3.79) for patients with an admission PaO2/FiO2 ≤ 300 mmHg and 0.27 (0.03–2.18) for those with PaO2/FiO2 > 300 mmHg; p-value at interaction test 0.16. pLMWH does not seem to reduce the risk of OTI/death mild/moderate COVID-19 pneumonia, especially when respiratory function had already significantly deteriorated. Data from clinical trials comparing the effect of prophylactic vs. therapeutic dosage of LMWH at various stages of COVID-19 disease are needed.

Published
2021

32. Efficacy of acute administration of inhaled argon on traumatic brain injury in mice

Author

Moro, F, Fossi, F, Magliocca, A, Pascente, R, Sammali, E, Baldini, F, Tolomeo, D, Micotti, E, Citerio, G, Stocchetti, N, Fumagalli, F, Magnoni, S, Latini, R, Ristagno, G, Zanier, E, Moro, Federico, Fossi, Francesca, Magliocca, Aurora, Pascente, Rosaria, Sammali, Eliana, Baldini, Federico, Tolomeo, Daniele, Micotti, Edoardo, Citerio, Giuseppe, Stocchetti, Nino, Fumagalli, Francesca, Magnoni, Sandra, Latini, Roberto, Ristagno, Giuseppe, Zanier, Elisa R., Moro, F, Fossi, F, Magliocca, A, Pascente, R, Sammali, E, Baldini, F, Tolomeo, D, Micotti, E, Citerio, G, Stocchetti, N, Fumagalli, F, Magnoni, S, Latini, R, Ristagno, G, Zanier, E, Moro, Federico, Fossi, Francesca, Magliocca, Aurora, Pascente, Rosaria, Sammali, Eliana, Baldini, Federico, Tolomeo, Daniele, Micotti, Edoardo, Citerio, Giuseppe, Stocchetti, Nino, Fumagalli, Francesca, Magnoni, Sandra, Latini, Roberto, Ristagno, Giuseppe, and Zanier, Elisa R.

Abstract

Background: Whilst there has been progress in supportive treatment for traumatic brain injury (TBI), specific neuroprotective interventions are lacking. Models of ischaemic heart and brain injury show the therapeutic potential of argon gas, but it is still not known whether inhaled argon (iAr) is protective in TBI. We tested the effects of acute administration of iAr on brain oedema, tissue micro-environmental changes, neurological functions, and structural outcome in a mouse model of TBI. Methods: Anaesthetised adult C57BL/6J mice were subjected to severe TBI by controlled cortical impact. Ten minutes after TBI, the mice were randomised to 24 h treatments with iAr 70%/O2 30% or air (iCtr). Sensorimotor deficits were evaluated up to 6 weeks post-TBI by three independent tests. Cognitive function was evaluated by Barnes maze test at 4 weeks. MRI was done to examine brain oedema at 3 days and white matter damage at 5 weeks. Microglia/macrophages activation and functional commitment were evaluated at 1 week after TBI by immunohistochemistry. Results: iAr significantly accelerated sensorimotor recovery and improved cognitive deficits 1 month after TBI, with less white matter damage in the ipsilateral fimbria and body of the corpus callosum. Early changes underpinning protection included a reduction of pericontusional vasogenic oedema and of the inflammatory response. iAr significantly reduced microglial activation with increases in ramified cells and the M2-like marker YM1. Conclusions: iAr accelerates recovery of sensorimotor function and improves cognitive and structural outcome 1 month after severe TBI in adult mice. Early effects include a reduction of brain oedema and neuroinflammation in the contused tissue.

Published
2021

37. Whispering Gallery Mode Resonators for Chemical, Biochemical and Physical Sensing

Author

Marco, María Pilar [0000-0002-2237-7197], Frigenti, G., Farnesi, D., Baldini, F., Berneschi, S., Giannetti, A., Lunelli, L., Pasquardini, L., Marco, María Pilar, Pederzolli, C., Righini, G. C., Pelli, S., Nunzi Conti, G., Soria, Silvia, Marco, María Pilar [0000-0002-2237-7197], Frigenti, G., Farnesi, D., Baldini, F., Berneschi, S., Giannetti, A., Lunelli, L., Pasquardini, L., Marco, María Pilar, Pederzolli, C., Righini, G. C., Pelli, S., Nunzi Conti, G., and Soria, Silvia

Abstract

We report on chemical, biochemical and physical sensors based on whispering gallery mode resonators. We characterized the resonators, improved the mitigation of fluctuations, and developed different types of optical sensors, labelled and label-free sensors for chemical and biochemical sensing, and pressure, temperature and nanoparticle sensing.

Published
2020

41. Partial discharge pattern recognition by neuro-fuzzy networks in heat-shrinkable joints and terminations of XLPE insulated distribution cables

Author

Mazzetti, C., Mascioli, F.M. Frattale, Baldini, F., Panella, M., Risica, R., and Bartnikas, R.

Subjects
Fuzzy algorithms -- Analysis, Fuzzy logic -- Analysis, Fuzzy systems -- Analysis, Neural networks -- Analysis, Object recognition (Computers) -- Analysis, Pattern recognition -- Analysis, Fuzzy logic, Neural network, Business, Computers, Electronics, Electronics and electrical industries
Abstract

An identification technique is described, based on a developed adaptive fuzzy logic network, that enables the recognition of partial discharges (PD) generated by different defects in heat-shrinkable joints and terminations of XLPE insulated power distribution cables. It is shown that different sources of PD can be identified on the basis of fuzzy rules applied to a selection of parameters derived from PD-pulse phase and amplitude distributions. A comparison with other PD pattern recognition techniques based on traditional neural networks is presented and discussed. Index Terms--Joints, neural networks, terminations, XLPE.

Published
2006

50. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

Author

Pellegrini, C. Botta, F. Massi, D. Martorelli, C. Facchetti, F. Gandini, S. Maisonneuve, P. Avril, M.-F. Demenais, F. Bressac-de Paillerets, B. Hoiom, V. Cust, A.E. Anton-Culver, H. Gruber, S.B. Gallagher, R.P. Marrett, L. Zanetti, R. Dwyer, T. Thomas, N.E. Begg, C.B. Berwick, M. Puig, S. Potrony, M. Nagore, E. Ghiorzo, P. Menin, C. Manganoni, A.M. Rodolfo, M. Brugnara, S. Passoni, E. Sekulovic, L.K. Baldini, F. Guida, G. Stratigos, A. Ozdemir, F. Ayala, F. Fernandez-de-Misa, R. Quaglino, P. Ribas, G. Romanini, A. Migliano, E. Stanganelli, I. Kanetsky, P.A. Pizzichetta, M.A. García-Borrón, J.C. Nan, H. Landi, M.T. Little, J. Newton-Bishop, J. Sera, F. Fargnoli, M.C. Raimondi, S. Alaibac, M. Ferrari, A. Valeri, B. Sicher, M. Mangiola, D. Nazzaro, G. Tosti, G. Mazzarol, G. Giudice, G. Ribero, S. Astrua, C. Mazzoni, L. Orlow, I. Mujumdar, U. Hummer, A. Busam, K. Roy, P. Canchola, R. Clas, B. Cotignola, J. Monroe, Y. Armstrong, B. Kricker, A. Litchfield, M. Tucker, P. Stephens, N. Switzer, T. Theis, B. From, L. Chowdhury, N. Vanasse, L. Purdue, M. Northrup, D. Rosso, S. Sacerdote, C. Leighton, N. Gildea, M. Bonner, J. Jeter, J. Klotz, J. Wilcox, H. Weiss, H. Millikan, R. Mattingly, D. Player, J. Tse, C.-K. Rebbeck, T. Walker, A. Panossian, S. Setlow, R. Mohrenweiser, H. Autier, P. Han, J. Caini, S. Hofman, A. Kayser, M. Liu, F. Nijsten, T. Uitterlinden, A.G. Kumar, R. Bishop, T. Elliott, F. Lazovich, D. Polsky, D. Hansson, J. Pastorino, L. Gruis, N.A. Bouwes Bavinck, J.N. Aguilera, P. Badenas, C. Carrera, C. Gimenez-Xavier, P. Malvehy, J. Puig-Butille, J.A. Tell-Marti, G. Blizzard, L. Cochrane, J. Branicki, W. Debniak, T. Morling, N. Johansen, P. Mayne, S. Bale, A. Cartmel, B. Ferrucci, L. Pfeiffer, R. Palmieri, G. Kypreou, K. Bowcock, A. Cornelius, L. Council, M.L. Motokawa, T. Anno, S. Helsing, P. Andresen, P.A. Guida, S. Wong, T.H. IMI Study Group GEM Study Group M-SKIP Study Group

Abstract

Background: Germline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls. Methods: In this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger. Findings: We analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02–2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06–3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05–2·44; p=0·04) and Asp294His (2·15, 1·05–4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants. Interpretation: Our pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies. Funding: SPD-Pilot/Project-Award-2015; AIRC-MFAG-11831. © 2019 Elsevier Ltd

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results