Bone and soft tissue sarcomas represent about 7-12% of all pediatric cancer and are a heterogeneous group of tumors arising in connective tissues embryologically derived from the mesenchyme. For some of these tumors relapse and mortality rates are still significantly high. Therefore, further studies are needed to better understand pathogenetic processes underlying sarcomas to offer new and more effective treatments. Next generation sequencing (NGS) has opened new frontiers for cancer research allowing to identify somatic or constitutional mutations known or yet unknown with the aim to better understand carcinogenesis. The establishment of the genomic profile of the tumor could also help clinicians to personalize patients treatment based on their genetic and molecular alterations.
Other: observation and biopsy
biopsy
Inclusion Criteria:
1. Patients with histologically confirmed Osteosarcoma, Ewing Sarcoma or Synovial Sarcoma
at first diagnosis.
2. Patients with confirmed relapsed/refractory Osteosarcoma, Ewing Sarcoma or Synovial
Sarcoma
3. Written informed consent signed by the patient, or parents or legal representative to
perform molecular analysis of the tumor sample.
4. Patients aged ≤24 years
5. Pathological review of tumor samples.
6. Availability of fresh tumor sample from newly diagnosed or relapsed/refractory cancer
and 10 ml of EDTA peripheral blood sample. Centralization of paraffin-embedded tumor
sample might be optional.
Exclusion Criteria:
- 1. Known history of active HIV, HCV, or HBV infection 2. Presence of a condition or
abnormality that in the opinion of the Investigator would compromise the safety of the
patient undergoing surgery biopsy or the quality of the data.
AOU Città della Salute e della Scienza di Torino - Presidio Infantile Regina Margherita
Torino, Turin, Italy
Istituto Ortopedico Rizzoli
Bologna, Italy
Policlinico S.Orsola-Malpighi
Bologna, Italy
Azienda ospedaliero-universitaria Meyer
Firenze, Italy
Istituto Giannina Gaslini
Genova, Italy
Istituto Nazionale Tumori
Milan, Italy
Presidio Ospedaliero Gaetano Pini | ASST Pini-CTO
Milan, Italy
Fondazione I.R.C.C.S. Policlinico San Matteo
Pavia, Italy
Istituti fisioterapici Ospitalieri - Istituto Tumori Regina Elena e Istituto Dermatologico San Gallicano
Roma, Italy
IRCCS materno infantile Burlo Garofolo
Trieste, Italy
Elisa Tirtei, MD
00390113135171
etirtei@cittadellasalute.to.it
Celeste Cagnazzo, PhD
celeste.cagnazzo@unito.it
Franca Fagioli, MD, Principal Investigator
AOU Città della Salute e della Scienza di Torino