Project resulted in poster here
Access poster here.
Desmoid tumors (DTs) are rare mesenchymal disease with a high tendency to recur despite an adequate surgical excision. An observational approach has been recently proposed in order to select patients who mostly benefit from medical therapy or surgical intervention because they have a painful or progressive disease or patients having an indolent or stable disease who can just be observed. There is not enough data or information at the beginning of the history that can help in predicting the behavior. Recently, specific β-catenin mutation (45F) has been correlated with a higher risk of recurrence after complete surgery. These results are based on retrospective data and they can be biased. In order to understand the natural history of this challenging disease, Fondazione IRCCS Instituto Nazionale dei Tumori proposed a prospective multicenter observational study for patients with measurable primary extra-abdominal disease who undergo W&S approach. This study has just been approved in Italy and the recruitment is ongoing. The aim of this translational project is to identify genome alterations that guide an aggressive behavior and to look for predictive factors in patients enrolled in the prospective clinical study using a high throughput genome approach. Dr. Colombo expects to observe different pattern of disease behavior that may reflect specific genome alterations. The data will be then validated in a larger cohort of patients surgically treated in the past and for whom FFPE materials are available. The assumption is that progression (in patients “observed”) and recurrence (in patients “operated”) represents different faces of biological aggressiveness. This could be helpful in the future to personalize treatments according to the predicted aggressiveness of the disease in each patient from the beginning.
