Tumor Type

France
Soft Tissue Cancer - Leiomyosarcoma
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Project Profile
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Clinic & Pathology

France: Groupe Sarcome Français - Groupe d'Etudes des Tumeurs Osseuses (GSF-GETO)

Details to follow

Sequencing & Analysis

Spain: Centro Nacional de Análisis Genómico
France: Institut Bergonié

CNAG: Our mission is to carry out large scale projects in genome analysis that will lead to significant improvements in people’s health and quality of life, in collaboration with the Catalan, Spanish, European and International research and clinical community.

The Bergonié Institute is an internationally recognized reference centre for the molecular pathology of sarcomas. More than 1500 cases are referred to the Bergonié Institute each year and around 3000 (80% of all cases/year) to the French Sarcoma Group. Altogether we believe that we have the internationally largest and highest quality collection of tumour samples with molecular characterization, clinical annotation and tumour banking. The Bergonié lab is strongly connected with the clinical databases through on going collaborations within the French Sarcoma Group and the European network EUROSARC.

Complementary Studies

France: Institut Bergonié

We performed additional high-throughput analyses including SNP-CGH, transcriptome analyses and functional genomics.

Data Storage, Analysis & Management

Details to follow

Project Summary

Leiomyosarcoma (LMS) is an uncommon group of malignant mesenchymal tumours composed of cells showing distinct smooth muscle differentiation1. These tumours occur mainly in adults in any location of the body (soft-tissue, viscera or uterine). Soft-tissue LMS represent 10-15% of all soft-tissue sarcomas. The most frequent locations are the limbs followed by the retroperitoneum. Data related to the clinical outcome of soft-tissue LMS are mainly limited to small, single institution, non-exhaustive or out of date series 2-7. Moreover, only few data regarding the molecular characteristics of LMS are available. Most of such studies analysed a small number of cases and/or mixed visceral and soft-tissue and primary and metastatic specimens 8-18.

Despite the genomic investigations ran during the past 15 years, mainly using standard and molecular cytogenetics, no driver alteration and therapeutical targets have been identified for these tumours so far. We now aim to seek for such alterations investigating mainly translocations and point mutations, which was not possible at the high throughput level before the establishment of the so called Next Generation Sequencing (NGS) technology.

This program will lead to an improved understanding of the pathogenesis of smooth muscle malignant lesions and to the identification of new alterations driving the tumoural process. Biomolecular differences at different scales will be identified between and within soft tissue, visceral and uterine LMS. Moreover, LMS being higly pleomorphic and heterogeneous, the clonal evolution of this tumors will be also assessed. Differences will be explored from the genomic and transcriptomic point of views as well as their integration. When required, germline and normal controls (respectively for DNA and RNA) will be included in the plan of sample comparison.

Principal Investigators

• Dr Frédéric Chibon, PI
• Pr Jean-Yves Blay (Coordonnateur NETSARC) and Pr Jean-Michel Coindre (Coordonnateur RRePS), in charge with clinical and pathological data
• Dr Agnès Neuville, in charge with tumor sampling, collecting and banking
• Dr Frédéric Chibon and Carlo Lucchesi, head genomics and bioinformatics analyses
• Dr Gaëlle Pérot, Sarcoma genomic lab of Bergonie Institute
• Dr Alain Aurias, Sarcomas cytogenetics expert

Lead Jurisdiction