Introduction: Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main treatment option in these patients, but it is burdened with a low efficacy rate and a high incidence of side effects as well as recurrence. In recent years, MEK inhibitors (MEKi) such as selumetinib and trametinib have shown great promise. Methods: We retrospectively describe a single center cohort of NF1 patients affected by PN1 and treated with MEKi since 2019 to 2021. Patients recruited in the study were affected by PN that were not eligible to complete surgical excision, symptomatic or with major cosmetic deformation or functional neurological deficits. Results: Most patients experienced improvement in clinical symptoms and quality of life, with reduction or stabilization of lesions. However, no complete response was achieved. The most common adverse effects involved the skin, affecting every patient. Importantly, no life-threatening adverse effects occurred. Conclusions: In our experience, MEKi treatment has been shown to be both safe and effective in improving symptomatology and quality of life.
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study / Cacchione, Antonella; Fabozzi, Francesco; Carai, Andrea; Colafati, Giovanna Stefania; Baldo, Giada Del; Rossi, Sabrina; Diana, Martino; Megaro, Giacomina; Milano, Giuseppe Maria; Macchiaiolo, Marina; Crocoli, Alessandro; De Ioris, Maria Antonietta; Boccuto, Luigi; Secco, Domitilla Elena; Zama, Mario; Agolini, Emanuele; Tomà, Paolo; Mastronuzzi, Angela. - In: CANCER CONTROL. - ISSN 1073-2748. - 30:(2023), p. 10732748221144930. [10.1177/10732748221144930]
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study
Cacchione, Antonella;Fabozzi, Francesco;Baldo, Giada Del;Rossi, Sabrina;Megaro, Giacomina;Agolini, Emanuele;Mastronuzzi, Angela
2023
Abstract
Introduction: Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main treatment option in these patients, but it is burdened with a low efficacy rate and a high incidence of side effects as well as recurrence. In recent years, MEK inhibitors (MEKi) such as selumetinib and trametinib have shown great promise. Methods: We retrospectively describe a single center cohort of NF1 patients affected by PN1 and treated with MEKi since 2019 to 2021. Patients recruited in the study were affected by PN that were not eligible to complete surgical excision, symptomatic or with major cosmetic deformation or functional neurological deficits. Results: Most patients experienced improvement in clinical symptoms and quality of life, with reduction or stabilization of lesions. However, no complete response was achieved. The most common adverse effects involved the skin, affecting every patient. Importantly, no life-threatening adverse effects occurred. Conclusions: In our experience, MEKi treatment has been shown to be both safe and effective in improving symptomatology and quality of life.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.