Aggressive Fibromatosis
Conditions
Keywords
desmoid tumour
Brief summary
The purpose of this study is to constitute the French largest Aggressive fibromatosis cohort.
Detailed description
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.
Interventions
PROCEDUREbiopsy
pre-therapeutic or post-therapeutic biopsy or resected tissues
OTHERbiobank constitution
Constitution of a biobank with pre-therapeutic or post-therapeutic biopsy or resected tissues
PROCEDUREColoscopy
For adult patients, a coloscopy with chromoscopy of ascending and sigmoid colon will be performed
PROCEDUREBlood sampling (facultative)
Blood sample can be collected at diagnostic or after medically significant events (progressive disease, local or systemic treatment, pregnancy...)
OTHERPain evaluation
Pain evaluation (EVA scale), anxiety (HADS questionnaire), quality of life questionnaire (EORTC-QLQ-C30)
PROCEDURETumor biobank realization
Realization of a tumor biobank is part of classical procedure of participating centers
Sponsors
Centre Oscar Lambret
Ligue contre le cancer, France
Institut Curie
Hôpital de la Timone
SOS Desmoid e.V.
APICIL funding
GIRCI NO
UNICANCER
Groupement Interrégional de Recherche Clinique et d'Innovation
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incident cases of aggressive fibromatosis, diagnosed after 01/01/2016 in France | through study completion, an average of 5 years | To constitute, at a national level, the largest cohort of incident cases of desmoid tumours |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Aggressive Fibromatosis associated with familial adenomatous polyposis | through study completion, an average of 5 years | To describe and analyse the link between Aggressive Fibromatosis and familial adenomatous polyposis |
| Percentage of CTNNB1 mutation in non-selected cases of Aggressive Fibromatosis | through study completion, an average of 5 years | To describe the proportion of AF cases characterized by CTNNB1 somatic mutation |
| Management of AF | through study completion, an average of 5 years | 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. |
| Hospital Anxiety and Depression Scale (HADS) | at baseline, one year | 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. |
| Quality of Life Questionnaire (QLQC30) | at baseline, one year | 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. |
| Impact of pregnancy and hormonal exposure | Through study completion, an average of 5 years | To study the impact of pregnancy and hormonal exposure on the evolution of the disease according to recurrence/progression rates |
| Incidence of polyposis and colorectal cancer | Through study completion, an average of 5 years | Rate of polyposis and colorectal cancer in the AF population |
| Pain | Through study completion, an average of 5 years | Pain according to Numeric Pain Scale, assessed at baseline and then at each annual follow-up. |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORNicolas PENEL, PhD
Centre Oscar Lambret
PRINCIPAL_INVESTIGATORSébastien SALAS, PhD
Hopital Timone adultes
Outcome results
None listed