{"id":21838,"date":"2024-08-07T10:14:05","date_gmt":"2024-08-07T10:14:05","guid":{"rendered":"https:\/\/www.nf1pn.eu\/informazioni-sulla-nf1-pn\/"},"modified":"2026-03-12T13:37:28","modified_gmt":"2026-03-12T13:37:28","slug":"informazioni-sulla-nf1-pn","status":"publish","type":"page","link":"https:\/\/www.nf1pn.eu\/it\/informazioni-sulla-nf1-pn\/","title":{"rendered":"Informazioni sulla NF1-PN"},"content":{"rendered":"\t\t
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Informazioni sulla NF1-PN<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Informazioni sulla NF1-PN: una condizione spesso debilitante che in molti casi cambia la vita1<\/sup><\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\tUna condizione genetica\t\t\t\t\t\t\t\t\t\t\t<\/a>\t\t\t\t\t\t\t\t\t\t<\/h5>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t

La neurofibromatosi di tipo 1 (NF1)<\/strong> \u00e8 un disturbo genetico con prevalenza minima stimata nei bambini e negli adulti di 1 su 3.000-4.000 in tutto il mondo<\/strong> ed \u00e8 causata da varianti patogenetiche del gene oncosoppressore NF1<\/strong>.2<\/sup>\nLa NF1 \u00e8 quella che presenta la maggiore prevalenza tra le sindromi da neurofibromatosi note<\/strong>, un gruppo di disturbi genetici associati allo sviluppo di tumori sui tessuti nervosi.3<\/sup><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Il 30-50%<\/strong> dei bambini e degli adulti con NF1 sviluppa neurofibromi plessiformi (PN)1, 5<\/sup><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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I comuni disturbi clinici correlati alla malattia<\/strong> nel contesto della NF1 sono i neurofibromi plessiformi (PN),<\/strong> un tipo di tumore della guaina nervosa periferica<\/strong> che pu\u00f2 essere altamente invasivo.1<\/sup>I PN spesso portano a complicanze debilitanti correlate alla malattia<\/strong>, tra cui dolore cronico, deturpazione, compressione degli organi interni, compromissione della\nfunzionalit\u00e0 fisica e una ridotta qualit\u00e0 della vita (QoL) per i pazienti.4<\/sup><\/p><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

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Una complicanza particolarmente grave della NF1 \u00e8 la potenziale trasformazione maligna dei PN in tumori maligni delle guaine nervose periferiche (MPNST),<\/strong> che si verifica al massimo nel 16% dei pazienti<\/strong> con NF1.6, 7<\/sup>\nI MPNST sono associati a un tasso di sopravvivenza complessiva a 5 anni<\/strong> che varia dal 14%8<\/sup> al 50%6<\/sup><\/strong>.<\/p><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

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Data la natura debilitante e in molti casi in grado di cambiare la vita<\/b>1<\/sup> della NF1-PN, vi \u00e8 l\u2019esigenza fondamentale di una diagnosi precoce, di una valutazione e di un monitoraggio clinici regolari<\/b> e di una gestione multidisciplinare a lungo termine<\/b>.9<\/sup><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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  1. Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: a nationwide study. Oncol Ther<\/em>. 2023;11(1):97\u2013110.<\/li>\n
  2. Lee T-SJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis.<\/em> 2023;18(1):292.<\/li>\n
  3. Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis.\u00a0Int J Mol Sci. 2021;22(11):5850.<\/li>\n
  4. Copley-Merriman C, Yang X, Juniper M, et al. Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review. Adolesc Health Med Ther<\/i>. 2021;12:55-66.<\/li>\n
  5. Darrigo LG Jr, Ferraz VEF, Cormedi MCV, et al. Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1. Brain Behav<\/i>. 2022;12(6):e2599.<\/li>\n
  6. Higham CS, Dombi E, Rogiers A, et al. The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. Neuro Oncol<\/i>. 2018;20(6):818\u2013825.<\/li>\n
  7. Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1\u2014a consensus overview. Hum Pathol<\/i>. 2017;67:1\u201310.<\/li>\n
  8. Zehou O, Fabre E, Zelek L, et al. Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review. Orphanet J Rare Dis.<\/i> 2013; 8: 127.<\/li>\n
  9. Carton C et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine<\/i>. 2023;56:101818.<\/li>\n<\/ol>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

    Informazioni sulla NF1-PN Informazioni sulla NF1-PN: una condizione spesso debilitante che in molti casi cambia la vita1 Una condizione genetica La neurofibromatosi di tipo 1 (NF1) \u00e8 un disturbo genetico con prevalenza minima stimata nei bambini e negli adulti di 1 su 3.000-4.000 in tutto il mondo ed \u00e8 causata da varianti patogenetiche del gene…<\/p>\n","protected":false},"author":4,"featured_media":0,"parent":0,"menu_order":5,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"_acf_changed":true,"footnotes":""},"class_list":["post-21838","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nNF1-PN: Informazioni sulla NF1-PN | SpringWorks Therapeutics<\/title>\n<meta name=\"description\" content=\"Panoramica della malattia: esplorare i principi di eziologia, patogenesi e gestione della NF1-PN.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" 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