Our website uses cookies to improve your on-site experience. By using the website, cookies are being used as described in our Policy Document
Warning: To log in you will need to enable cookies and reload the page (Policy Document)
My ePortfolio Register   

Abstract | Full HTML Article | PDF ecancer 12 862 / https://doi.org/10.3332/ecancer.2018.862

Case Report

Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas

Neurofibromatosis 1 (NF1) is an autosomal dominant tumour predisposition disorder with a birth incidence of about 1 in 2,700 and prevalence of 1 in 4,560. The NF1 gene codes for an ubiquitous protein: neurofibromin. Neurofibromin interacts with the proto-oncogene RAS to suppress tumour formation. Individuals with germline inactivation of the NF1 gene have a propensity to develop both benign and malignant tumours.

We report the case of a 12-year-old child with NF1, diagnosed at the age of 15 months, for whom the clinical course has been marked by the appearance of multiple cutaneous and paraspinal neurofibromas responsible for impaired walking, motor deficiency and pain. A treatment with an MEK inhibitor, trametinib, was initiated and led to a quick and sustained clinical response.

Keywords: MEK, children, neurofibromatosis, neurofibroma, glioma

Loading Article Metrics ... Please wait

Related articles

Review: Women’s cancers: how the discovery of BRCA genes is driving current concepts of cancer biology and therapeutics

Abstract | Full Article | PDF Published: 14 Feb 2019 / https://doi.org/10.3332/ecancer.2019.904

Clinical Study: Plasma neutrophil gelatinase-associated lipocalin and factors related to acute kidney injury and mortality in critically ill cancer patients

Abstract | Full Article | PDF Published: 14 Feb 2019 / https://doi.org/10.3332/ecancer.2019.903

Research: Papillary breast lesions diagnosed by percutaneous needle biopsy: management approach

Abstract | Full Article | PDF Published: 05 Feb 2019 / https://doi.org/10.3332/ecancer.2019.902

Research: Barriers to the non-acceptance of cervical cancer screenings (pap smear test) in women of childbearing age in a rural area of Peru

Abstract | Full Article | PDF | Spanish Published: 31 Jan 2019 / https://doi.org/10.3332/ecancer.2019.901

Research: ROS1 mutation non-small cell lung cancer—access to optimal treatment and outcomes

Abstract | Full Article | PDF Published: 29 Jan 2019 / https://doi.org/10.3332/ecancer.2019.900

Founding partners

European Cancer Organisation European Institute of Oncology

Founding Charities

Foundazione Umberto Veronesi Fondazione IEO Swiss Bridge

Published by

ecancer Global Foundation