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

Case Report: Surgical treatment in oligometastatic breast cancer

Abstract | Full Article | PDF Published: 20 May 2019 / https://doi.org/10.3332/ecancer.2019.931

Case Report: Chemotherapy and anti-HER2 therapy in metastatic breast cancer in pregnancy followed by surgical treatment

Abstract | Full Article | PDF | Spanish Published: 14 May 2019 / https://doi.org/10.3332/ecancer.2019.930

Clinical Study: Relevance of minor discrepancies at second pathology review in gynaecological cancer

Abstract | Full Article | PDF Published: 13 May 2019 / https://doi.org/10.3332/ecancer.2019.929

Research: Associated factors with the knowledge of nurses of a high complexity oncology centre in Brazil, on the management of cancer pain

Abstract | Full Article | PDF Published: 09 May 2019 / https://doi.org/10.3332/ecancer.2019.928

Short Communication: Prepectoral implant-based breast reconstruction: a joint consensus guide from UK, European and USA breast and plastic reconstructive surgeons

Abstract | Full Article | PDF Published: 07 May 2019 / https://doi.org/10.3332/ecancer.2019.927



Founding partners

European Cancer Organisation European Institute of Oncology

Founding Charities

Foundazione Umberto Veronesi Fondazione IEO Swiss Bridge

Published by

ecancer Global Foundation