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694 results on '"DE MARINIS, L."'

1. The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?

Author

Chiloiro, Sabrina, Capoluongo, Ettore Domenico, Costanza, Flavia, Minucci, Angelo, Giampietro, Antonella, Infante, A., Milardi, Domenico, Ricciardi Tenore, C., De Bonis, Maria Valeria, Gaudino, Simona, Rindi, Guido, Olivi, Alessandro, De Marinis, L., Pontecorvi, Alfredo, Doglietto, Francesco, Bianchi, Antonio, Chiloiro S. (ORCID:0000-0001-9241-2392), Capoluongo E. D. (ORCID:0000-0001-9872-0572), Costanza F., Minucci A., Giampietro A., Milardi D., De Bonis M., Gaudino S. (ORCID:0000-0003-1681-4343), Rindi G. (ORCID:0000-0003-2996-4404), Olivi A. (ORCID:0000-0002-4489-7564), Pontecorvi A. (ORCID:0000-0003-0570-6865), Doglietto F. (ORCID:0000-0002-7438-0734), Bianchi A., Chiloiro, Sabrina, Capoluongo, Ettore Domenico, Costanza, Flavia, Minucci, Angelo, Giampietro, Antonella, Infante, A., Milardi, Domenico, Ricciardi Tenore, C., De Bonis, Maria Valeria, Gaudino, Simona, Rindi, Guido, Olivi, Alessandro, De Marinis, L., Pontecorvi, Alfredo, Doglietto, Francesco, Bianchi, Antonio, Chiloiro S. (ORCID:0000-0001-9241-2392), Capoluongo E. D. (ORCID:0000-0001-9872-0572), Costanza F., Minucci A., Giampietro A., Milardi D., De Bonis M., Gaudino S. (ORCID:0000-0003-1681-4343), Rindi G. (ORCID:0000-0003-2996-4404), Olivi A. (ORCID:0000-0002-4489-7564), Pontecorvi A. (ORCID:0000-0003-0570-6865), Doglietto F. (ORCID:0000-0002-7438-0734), and Bianchi A.

Abstract

Several genetic investigations were conducted to identify germline and somatic mutations in somatotropinomas, a subtype of pituitary tumors. To our knowledge, we report the first acromegaly patient carrying a RET pathogenic variant: c.2410G>A (rs79658334), p.Val804Met. Alongside the fact that the patient’s father and daughter carried the same variant, we investigated the clinical significance of this variant in the context of somatotropinomas and other endocrine tumors, reviewing the RET mutations’ oncogenic mechanisms. The aim was to search for new targets to precisely manage and treat acromegaly. Our case describes a new phenotype associated with the RET pathogenic variant, represented by aggressive acromegaly, and suggests consideration for RET mutation screening if NGS for well-established PitNET-associated gene mutations renders negative.

Published
2024

9. Aggressive PitNETs and Potential Target Therapies: A Systematic Review of Molecular and Genetic Pathways

Author

Serioli, S., Agostini, L., Pietrantoni, A., Valeri, Federico, Costanza, Flavia, Chiloiro, Sabrina, Buffoli, B., Piazza, A., Poliani, P. L., Peris-Celda, M., Iavarone, Federica, Gaudino, Simona, Gessi, Marco, Schinzari, Giovanni, Mattogno, Pier Paolo, Giampietro, Antonella, De Marinis, L., Pontecorvi, Alfredo, Fontanella, Marco Maria, Lauretti, Liverana, Rindi, Guido, Olivi, Alessandro, Bianchi, Antonio, Doglietto, Francesco, Valeri F., Costanza F., Chiloiro S. (ORCID:0000-0001-9241-2392), Iavarone F. (ORCID:0000-0002-2074-5531), Gaudino S. (ORCID:0000-0003-1681-4343), Gessi M., Schinzari G. (ORCID:0000-0001-6105-7252), Mattogno P. P., Giampietro A., Pontecorvi A. (ORCID:0000-0003-0570-6865), Fontanella M. M., Lauretti L. (ORCID:0000-0002-6463-055X), Rindi G. (ORCID:0000-0003-2996-4404), Olivi A. (ORCID:0000-0002-4489-7564), Bianchi A., Doglietto F. (ORCID:0000-0002-7438-0734), Serioli, S., Agostini, L., Pietrantoni, A., Valeri, Federico, Costanza, Flavia, Chiloiro, Sabrina, Buffoli, B., Piazza, A., Poliani, P. L., Peris-Celda, M., Iavarone, Federica, Gaudino, Simona, Gessi, Marco, Schinzari, Giovanni, Mattogno, Pier Paolo, Giampietro, Antonella, De Marinis, L., Pontecorvi, Alfredo, Fontanella, Marco Maria, Lauretti, Liverana, Rindi, Guido, Olivi, Alessandro, Bianchi, Antonio, Doglietto, Francesco, Valeri F., Costanza F., Chiloiro S. (ORCID:0000-0001-9241-2392), Iavarone F. (ORCID:0000-0002-2074-5531), Gaudino S. (ORCID:0000-0003-1681-4343), Gessi M., Schinzari G. (ORCID:0000-0001-6105-7252), Mattogno P. P., Giampietro A., Pontecorvi A. (ORCID:0000-0003-0570-6865), Fontanella M. M., Lauretti L. (ORCID:0000-0002-6463-055X), Rindi G. (ORCID:0000-0003-2996-4404), Olivi A. (ORCID:0000-0002-4489-7564), Bianchi A., and Doglietto F. (ORCID:0000-0002-7438-0734)

Abstract

Recently, advances in molecular biology and bioinformatics have allowed a more thorough understanding of tumorigenesis in aggressive PitNETs (pituitary neuroendocrine tumors) through the identification of specific essential genes, crucial molecular pathways, regulators, and effects of the tumoral microenvironment. Target therapies have been developed to cure oncology patients refractory to traditional treatments, introducing the concept of precision medicine. Preliminary data on PitNETs are derived from preclinical studies conducted on cell cultures, animal models, and a few case reports or small case series. This study comprehensively reviews the principal pathways involved in aggressive PitNETs, describing the potential target therapies. A search was conducted on Pubmed, Scopus, and Web of Science for English papers published between 1 January 2004, and 15 June 2023. 254 were selected, and the topics related to aggressive PitNETs were recorded and discussed in detail: epigenetic aspects, membrane proteins and receptors, metalloprotease, molecular pathways, PPRK, and the immune microenvironment. A comprehensive comprehension of the molecular mechanisms linked to PitNETs' aggressiveness and invasiveness is crucial. Despite promising preliminary findings, additional research and clinical trials are necessary to confirm the indications and effectiveness of target therapies for PitNETs.

Published
2023

11. Pegvisomant in acromegaly: an update

Author

Giustina, A., Arnaldi, G., Bogazzi, F., Cannavò, S., Colao, A., De Marinis, L., De Menis, E., Degli Uberti, E., Giorgino, F., Grottoli, S., Lania, A. G., Maffei, P., Pivonello, R., and Ghigo, E.

Published
2017
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18. Position statement for clinical practice: prolactin-secreting tumors

Author

Cozzi, R, Ambrosio, Mr, Attanasio, R, Battista, C, Bozzao, A, Caputo, M, Ciccarelli, E, De Marinis, L, De Menis, E, Faustini Fustini, M, Grimaldi, F, Lania, A, Lasio, G, Logoluso, F, Losa, M, Maffei, P, Milani, D, Poggi, M, Zini, M, Katznelson, L, Luger, A, and Poiana, C.

Published
2022

23. Double pituitary adenomas

Author

Iacovazzo, D., Bianchi, A., Lugli, F., Milardi, D., Giampietro, A., Lucci-Cordisco, E., Doglietto, F., Lauriola, L., and De Marinis, L.

Published
2013
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32. Pegvisomant in acromegaly: Why, when, how

Author

Colao, A., Arnaldi, G., Beck-Peccoz, P., Cannavò, S., Cozzi, R., degli Uberti, E., De Marinis, L., De Menis, E., Ferone, D., Gasco, V., Giustina, A., Grottoli, S., Lombardi, G., Maffei, P., Martino, E., Minuto, F., Pivonello, R., and Ghigo, E.

Published
2007
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33. Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Author

Marques, P, Caimari, F, Hernández-Ramírez, LC, Collier, D, Iacovazzo, D, Ronaldson, A, Magid, K, Lim, CT, Stals, K, Ellard, S, Grossman, AB, Korbonits, M, Abraham, P, Aflorei, E, Agha, A, Ahlquist, J, Akker, SA, Alexandraki, K, Alföldi, S, Anselmo, J, Arlt, W, Atkinson, B, Aulinas-Masó, A, Aylwin, SJ, Baborie, A, Backeljauw, PF, Badiu, C, Baldeweg, S, Ball, S, Bano, G, Barkan, A, Barton, J, Barwell, J, Bates, P, Bernal-González, C, Besser, M, Bevan, JS, Bickerton, A, Blair, J, Bolanowski, M, Bouloux, P, Bradley, L, Bradley, K, Brain, C, Brooke, A, Brown, R, Buchfelder, M, Burren, C, Cakir, M, Canham, N, Capraro, J, Carroll, P, Carter, P, Carty, D, Cavlan, D, Chahal, HS, Cheetham, T, Chentli, F, Choong, C, Christ-Crain, M, Chung, T-T, Clayton, P, Clayton, RN, Cohen, M, Courtney, H, Cove, D, Crowne, E, Cuthbertson, D, Dal, J, Dalantaeva, N, Damjanovic, S, Daousi, C, Darzy, K, Dattani, M, Davies, M, Davies, J, Davis, J, de Castro, M, de Marinis, L, Deal, C, Dénes, J, Dimitri, P, Dorward, N, Dow, G, Drake, W, Druce, M, Drummond, J, Dutta, P, Dzeranova, L, Edén-Engström, B, Eeles, R, Elfving, M, Ellis, K, Elston, M, Emmerson, L, Ezzat, S, Fersht, N, Fica, S, Fischli, S, Fleseriu, M, Forsythe, E, Foulkes, W, Freda, P, Friedman, T, Gadelha, M, Gainsborough, M, Gallacher, S, Gallego, P, Gan, H-W, Georgescu, C, Gevers, E, Gilkes, C, Glynn, N, Goldman, JE, Goldstone, AP, Góth, M, Green, A, Greenhalgh, L, Grieve, J, Griz, L, Guitelman, M, Gürlek, A, Gurnell, M, Hamblin, PS, Hana, V, Harding, P, Hay, E, Hilton, DA, Ho, W, Hong, G, Horváth, K, Howell, S, Howlett, TA, Höybye, C, Hunter, S, Idampitiya, C, Igaz, P, Imran, A, Inder, WJ, Iwata, T, Izatt, L, Jagadeesh, S, Johnston, C, Jose, B, Kaltsas, G, Kaplan, F, Karavitaki, N, Kastelan, D, Katz, M, Kearney, T, Kershaw, M, Khoo, B, Kiraly-Borri, C, Knispelis, R, Kovács, GL, Kumar, A, Kumar, AV, Kun, IZ, Kyriaku, A, Lambrescu, I, Lampe, AK, Laws, ER, Lebek-Szatanska, A, Lechan, RM, Leese, G, Levy, A, Levy, MJ, Lewandowski, K, Lin, E, Lo, J, Lyons, C, Maartens, N, Maghnie, M, Makaya, T, Marcus, H, Niedziela, M, Martin, N, Matsuno, A, McGowan, B, McQuaid, SE, Medic-Stojanoska, M, Mendoza, N, Mercado-Atri, M, Mettananda, S, Mezősi, E, Miljic, D, Miller, KK, Modenesi, S, Molitch, ME, Monson, J, Morris, DG, Morrison, PJ, Mosterman, B, Munir, A, Murray, RD, Musat, M, Musolino, N, Nachtigall, L, Nagi, D, Nair, R, Nelson, R, Newell-Price, J, Nikookam, K, Ogilivie, A, Orme, SM, O´Weickert, M, Pal, A, Pascanu, I, Patócs, A, Patterson, C, Pearce, SH, Giraldi, FP, Penney, L, Perez-Rivas, LG, Pfeifer, M, Pirie, F, Poplawski, N, Popovic, V, Powell, M, Pullan, P, Quinton, R, Radian, S, Randeva, H, Reddy, N, Rees, A, Renals, V, de Oliveira, AR, Richardson, T, Rodd, C, Ross, RJM, Roncaroli, F, Ryan, F, Salvatori, R, Schöfl, C, Shears, D, Shotliff, K, Skelly, R, Snape, K, Soares, BS, Somasundaram, N, Spada, A, Sperber, J, Spoudeas, H, Stelmachowska-Banas, M, Stewart, S, Storr, HL, Strasburger, C, Street, ME, Suter-Widmer, I, Suthers, G, Swords, F, Syro, LV, Swantje, B, Sze, C, Taylor, J, Thakker, RV, Tham, E, Thompson, C, Thorner, MO, Tóth, M, Trainer, PJ, Tsagarakis, S, Twine, G, Tzanela, M, Vadasz, J, Vaidya, B, Vaks, V, Vance, ML, Verkauskiene, R, Von Esch, H, Wass, JA, Waterhouse, M, Webb, S, Weber, A, Wernig, F, Widell, H, Yamada, S, Yap, P, Yarman, S, Yeoh, P, Yoshimoto, K, Yuen, K, and Zammitt, NN

Abstract

Context\ud \ud Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs).\ud \ud \ud \ud Objective\ud \ud To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients.\ud \ud \ud \ud Design\ud \ud 12-year prospective, observational study.\ud \ud \ud \ud Participants & Setting\ud \ud We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases.\ud \ud \ud \ud Interventions & Outcome\ud \ud AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310).\ud \ud \ud \ud Results\ud \ud Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650).\ud \ud \ud \ud Conclusions\ud \ud Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.

Published
2020

35. Multidimensional geriatric evaluation in acromegaly: a comparative cross-sectional study

Author

Gagliardi, I, Chiloiro, S, Vallillo, M, Bondanelli, M, Volpato, S, Giampietro, A, Bianchi, A, De Marinis, L, Zatelli, Mc, Ambrosio, Mr., Chiloiro S (ORCID:0000-0001-9241-2392), Giampietro A, Bianchi A, Gagliardi, I, Chiloiro, S, Vallillo, M, Bondanelli, M, Volpato, S, Giampietro, A, Bianchi, A, De Marinis, L, Zatelli, Mc, Ambrosio, Mr., Chiloiro S (ORCID:0000-0001-9241-2392), Giampietro A, and Bianchi A

Abstract

Background: Improvement in acromegaly management increased disease survival and prevalence. Evidence regarding acromegaly in older adults are sparse. We aim to explore acromegaly impact on aging process quality. Methods: Multicenter case-control study conducted on 42 older adults (≥ 65 years) acromegaly patients (ACRO) compared to an age- and gender-matched control group (CTR). Each participant underwent a multidimensional geriatric evaluation. Results: Mean age in both groups was 73 ± 6 years and female gender was most represented (69%). All comorbidities were more frequent in ACRO than CTR. Thirteen ACRO were in remission and 29 had active disease controlled by medical therapy except for one patient. ACRO showed worse physical performance and mobility skills worsening with age as compared to CTR. ACRO performed poorly in functional status assessment, and age negatively correlated with instrumental and basic daily activities execution. Cognitive evaluation scores were significantly lower in ACRO vs. CTR, worsening with age. No difference was found concerning nutritional and psychological status. Musculoskeletal and bone diseases were more frequent in ACRO than in CTR (52% vs. 12%; 64% vs. 10%; P < 0.05) and independently associated with geriatric outcomes in ACRO. ACRO reported a less satisfactory quality of life concerning physical activity and pain, general health, vitality, social activities. Conclusions: Our study demonstrates increased frailty of older acromegaly patients as compared to non-acromegaly patients with a consequent negative impact on their quality of life. Therefore, it seems advisable to include physical, functional, cognitive, nutritional, and psychological status assessments in routine clinical practice. Further studies are needed to identify the most appropriate geriatric tools.

Published
2021

45. The Treatment of Neuroendocrine Tumours (NETs) with Long-Acting Somatostatin Analogues: Preliminary Data in a Single Centre Experience with Lanreotide Autogel.

Author

Bianchi, A, primary, Fusco, A, additional, Milardi, D, additional, Lugli, F, additional, Tartaglione, L, additional, Mormando, M, additional, Lassandro, AP, additional, Paragliola, RM, additional, Rota, CA, additional, Casa, S Della, additional, Corsello, M, additional, Pontecorvi, A, additional, and De Marinis, L, additional

Published
2010
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