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NF Patients United

Global Network of Neurofibromatosis Patient Organisations


Science and research update #1 2019

NF Research

It is our mission to create a communication channel between science and NF patients, in order to increase reciprocal comprehension and confidence. Below is an overview of the latest news in the field of science and research.

A great work has been carried out by the group of Lu Le, at the University of Texas Southwestern Medical Center, Dallas, TX. Animal models of NF1-related tumors were used to discover what the cells of origin of plexiform neurofibroma are. We know that these tumors are formed by cells, called Schwann cells, which normally nurse our nerves, making them work properly and efficiently. The group of Prof Le found that precursors of these cells become genetically committed to form plexiform neurofibromas at a specific, early stage of embryonic development. This provided ground for a thorough comprehension of factors and mechanisms critical for neurofibroma onset and growth, but also allowed to think of therapies for preventing neurofibroma formation in patients. The full article is here: https://www.cell.com/cancer-cell/fulltext/S1535-6108(14)00372-9.

More recently, the same research group used an animal model to discover which are the embryonic cells that give birth to both plexiform and cutaneous neurofibroma. This result, which was also confirmed by the group of Piotr Topilko, based at the Institut de Biologie de l’Ecole Normale Supérieure of Paris, is particularly important, as cutaneous neurofibromas are the tumors most commonly associated with NF1. To read the articles please follow the links: http://cancerdiscovery.aacrjournals.org/content/9/1/114; http://cancerdiscovery.aacrjournals.org/content/9/1/130

In a separate work the group of Lu Le has analyzed both benign and malignant tumors commonly associated with NF1 patients, finding that having a NF1 mutation accelerates the formation of benign tumors. Indeed, this is what happens to patients, who are heterozygous at the NF1 gene (in simple words, of the two NF1 genes, one of maternal and the other of paternal origin, only one is affected). Unexpectedly, however, this heterozygosity impairs further progression to malignancy, revealing an antagonistic role for NF1 in tumor initiation on the one hand, and malignant transformation on the other hand: initiation is favored, whereas switch to malignancy is less probable in NF1 patients (this article is here: https://www.nature.com/articles/s41467-018-07452-y). This is really good news, and further studies will certainly better address its importance and meaning for patients.

This overview is prepared by and published by courtesy of
Linfa ONLUS (Italy)

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