Development of a novel treatment by inhibition of mast cell-associated proteins in neurofibroma tumours

Abstract

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an inherited disorder that will (with high probability) lead to multiple benign tumors in the future. There are several types of NF1 tumors and there is no way to control their incidence other than surgical resection. Associate Professor Misa Yamamoto, an expert in regenerative medicine, is currently conducting a project to elucidate the tumor growth mechanism in NF1 patients. This will lead to the development of innovative treatments for this disease. The researchers are affiliated with the Department of Clinical Laboratory Sciences, Graduate School of Medicine, Yamaguchi University, Japan. Currently, we have worked on analyzing the function of mast cells in cutaneous neurofibroma and aim to develop a new treatment method that suppresses the function of mast cells involved in tumor growth. There are still many gaps in knowledge regarding NF1. Neurofibroma tumors are known to contain a considerable number of mast cells though Professor Yamamoto found with the research has shown that each cell has an abnormally high concentration of an inflammatory substance called tryptase. This means that neurofibromas are constantly exposed to a strong inflammatory state, suggesting that it is difficult to stop tumor growth unless inflammation is stopped. Professor Yamamoto investigated the differences in the properties of disease-specific mast cells with NF1 gene mutations and mast cells derived from healthy subjects, and clarified differences in the production of tryptase, TGF-β1, and Stem Cell Factor. These findings suggest that tumor growth is driven by the overexpression of these proteins, and researchers believe that blocking the pathways that suppress the expression of these proteins can reduce inflammation and tumor growth.