Response to Everolimus of a Progressive Plexiform Neurofibroma in NF type 1
First published:06 February 2020
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi:10.1111/ped.14183
Abstract
Background
Clinical features of neurofibromatosis type 1 (NF1) are diverse and include plexiform neurofibromas (PNs). Increasing knowledge of the molecular pathways involved in the growth of NF1 related tumours and the advent of molecularly targeted anti‐cancer drugs have resulted in the development of potential medical treatments to cease PNs progression in these patients. The inactivation of genes responsible for phakomatoses have been linked in a common biochemical pathway to a deregulation of the mammalian target of rapamycin (mTOR) signalling. Cell lines derived from NF1‐related tumours have shown to be sensitive to the mTOR inhibitor rapamycin.
Case presentation
We describe an 11 years old girl diagnosed of NF1 with a symptomatic progressive PN involving the left brachial plexus treated with oral everolimus, a mTOR inhibitor, at an initial dose of 3 mg/m2 per day. A magnetic resonance imaging performed three months after introduction of everolimus, revealed reduction of the tumour volume with further shrinkage over the next 18 months while on treatment. She achieved pain alleviation and recovered tactile sensation. Everolimus was well tolerated.
Conclusion
mTOR inhibitors may represent a treatment option to promote regression of PNs associated to NF1.
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