The desmoid tumor, also known as fibromatosis desmoid-type, is a rare benign neoplasia, that originates from the connective tissue. This disease, which mainly affects young people (10-40 years of age) and in particular women, can be sporadic or associated with familiar colon polyposis. A small number of sporadic desmoid tumors have mutations in the APC gene, while the 70-80% of cases are associated with mutations in the gene for beta-catenin.
The disease is manifested by abnormal growth of in the abdominal or extra-abdominal fibro-muscular cells, but particularly affects the soft tissues of the extremities.
The diagnosis is based on clinical, radiological and histological evidences, yet it is difficult to choose the optimal therapy as anatomical presentations are varied.
Current treatments are surgical removal of the pathological region, combined with radiation therapy or pharmacological agents, although recently the prevailing theory among many physicians is: “Watch and wait”.
In fact, none of these approaches seems quite effective because relapses occur in 60% of cases treated. For example Paola a mother from Vicenza, has undergone 50 surgeries.
In the laboratories of BIRD Institute, in collaboration with the “Unità Melanoma e Sarcomi dei tessuti molli” dell’Istituto Oncologico Veneto I.O.V. of Padua, the researchers are studing to identify the factors responsible for the onset and growth of these cancer cells, through cellular and molecular approaches.
The study of morphological desmoid cell, as well as the identification and / or alterations of genes potentially involved in this disease , related to the clinical history of patients could help to improve the quality of life, avoiding surgical intervention but providing personalized treatments.