The purpose of this study is to constitute the French largest Aggressive fibromatosis cohort.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
OTHER
Masking
NONE
Enrollment
628
pre-therapeutic or post-therapeutic biopsy or resected tissues
Constitution of a biobank with pre-therapeutic or post-therapeutic biopsy or resected tissues
For adult patients, a coloscopy with chromoscopy of ascending and sigmoid colon will be performed
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
Time frame: through study completion, an average of 5 years
Number of Aggressive Fibromatosis associated with familial adenomatous polyposis
To describe and analyse the link between Aggressive Fibromatosis and familial adenomatous polyposis
Time frame: 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
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: at baseline, one year
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Blood sample can be collected at diagnostic or after medically significant events (progressive disease, local or systemic treatment, pregnancy...)
Pain evaluation (EVA scale), anxiety (HADS questionnaire), quality of life questionnaire (EORTC-QLQ-C30)
Realization of a tumor biobank is part of classical procedure of participating centers
Institut de Cancérologie de l'Ouest - Paul Papin
Angers, France
CHU Angers
Angers, France
CHU de Besançon
Besançon, France
Hôpital des Enfants
Bordeaux, France
Institut Bergonié
Bordeaux, France
CHU de Caen-Côte de Nacre
Caen, France
Centre François Baclesse
Caen, France
Centre Jean Perrin
Clermont-Ferrand, France
Centre Georges François Leclerc
Dijon, France
CHU de Grenoble- Hôpital Couple Enfant
Grenoble, France
...and 29 more locations
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
Time frame: Through study completion, an average of 5 years
Incidence of polyposis and colorectal cancer
Rate of polyposis and colorectal cancer in the AF population
Time frame: Through study completion, an average of 5 years