National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES)

Study Overview
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Brief Summary
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The purpose of this study is to constitute the French largest Aggressive fibromatosis cohort.

Detailed Description
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Aggressive fibromatosis (AF) is a rare non-metastasizing connective tissue tumor (< 300 cases/year in France), associated with high risk of local relapse, functional impairment and pain. AF can occur at any age, but most commonly between 25 and 40 with a significant female predominance. AF is most frequently (about 85%) sporadic and then associated with a somatic mutation of the CTNNB1 gene. AF is associated with heredity condition, as complication of familial adenomatous polyposis (with germinal mutation of Adenomatous polyposis coli (APC) gene). Most of AF arises on lims or abdominal wall. Nevertheless, some particular locations are life-threatening (mesenteric or cervical locations). The natural course of AF is unpredictable. One third of tumors are spontaneously stable. One third of tumor spontaneously decreases. One third of tumor is progressive, with a non-linear tumor growth dynamic. As the consequence the decision making for starting curative intent treatment is difficult, since some treatment could be mutilating (large en bloc surgery) or associated with late and severe complications (radiotherapy) and since these treatments could fail to control this benign tumor. Therapeutic options are: wait-and-see policy, surgery (sometimes mutilating), radiotherapy or systemic treatment (non-steroidal anti-inflammatory drugs, hormonotherapy, imatinib, chemotherapy). Level of evidence associated these options is very low, based on retrospective studies and rare non-randomized phase II clinical trials. Regarding these uncertainties, physicians can hardly answer to patient questions. Prospective data provided by a large multi-center cohort is needed. The objective of the present study is to create a large cohort of incident cases of AF associated with tumor bank and collection of blood samples.

Official Title
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National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis

Conditions
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Aggressive Fibromatosis

Intervention / Treatment
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* Procedure: biopsy
* Other: biobank constitution
* Procedure: Coloscopy
* Procedure: Blood sampling (facultative)
* Other: Pain evaluation
* Procedure: Tumor biobank realization


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Incident Case of aggressive fibromatosis in France, diagnosed after 01/01/2016 Confirmed diagnosis by the French anatomopathological diagnosis network (including search for mutation of the β-Catenin Gene, CTNNB1) Affiliation to the National Health System Informed consent signed (both parents signature for non adult patients) Exclusion Criteria: Administrative or legal measure of liberty privation Patient not able to give consent or unwilling to provide consent
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Study procedure<br>Tumor biobank realization (biopsy...) and biobank constitution. coloscopy associated with colonic chromoscopy. Blood sampling (facultative). Pain evaluation | Procedure: biopsy<br>* pre-therapeutic or post-therapeutic biopsy or resected tissues<br>Other: biobank constitution<br>* Constitution of a biobank with pre-therapeutic or post-therapeutic biopsy or resected tissues<br>Procedure: Coloscopy<br>* For adult patients, a coloscopy with chromoscopy of ascending and sigmoid colon will be performed<br>Procedure: Blood sampling (facultative)<br>* Blood sample can be collected at diagnostic or after medically significant events (progressive disease, local or systemic treatment, pregnancy...)<br>Other: Pain evaluation<br>* Pain evaluation (EVA scale), anxiety (HADS questionnaire), quality of life questionnaire (EORTC-QLQ-C30)<br>Procedure: Tumor biobank realization<br>* Realization of a tumor biobank is part of classical procedure of participating centers<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incident cases of aggressive fibromatosis, diagnosed after 01/01/2016 in France | To constitute, at a national level, the largest cohort of incident cases of desmoid tumours | through study completion, an average of 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of Aggressive Fibromatosis associated with familial adenomatous polyposis | To describe and analyse the link between Aggressive Fibromatosis and familial adenomatous polyposis | through study completion, an average of 5 years | 
| Percentage of CTNNB1 mutation in non-selected cases of Aggressive Fibromatosis | To describe the proportion of AF cases characterized by CTNNB1 somatic mutation | through study completion, an average of 5 years | 
| Management of AF | Description of the management of AF. Study of prognosis factor for progressive disease and death. Study of tumor response to treatments (Best response and progression-free survival) according to RECIST 1.1. | through study completion, an average of 5 years | 
| Hospital Anxiety and Depression Scale (HADS) | To describe the psychological impact of the disease at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used. | at baseline, one year | 
| Quality of Life Questionnaire (QLQC30) | To describe the consequences of the disease on the quality of life at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used. | at baseline, one year | 
| Impact of pregnancy and hormonal exposure | To study the impact of pregnancy and hormonal exposure on the evolution of the disease according to recurrence/progression rates | Through study completion, an average of 5 years | 
| Incidence of polyposis and colorectal cancer | Rate of polyposis and colorectal cancer in the AF population | Through study completion, an average of 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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desmoid tumour