Dr. Ana Patiño. PHOTO: Manuel Castells

The specialized journal with the highest impact on area of Genetics and inheritance (FI. 36,377), "Nature Genetics" publishes since yesterday in its latest edition the conclusions of a European multicenter study on the identification of two genetic risk markers for development of Ewing's sarcoma. The laboratory of Pediatrics of the Clínica Universidad de Navarraled by Dr. Ana Patiño, has contributed a series of 68 cases to the European research .

Ewing's sarcoma is a rare pediatric bone tumor subject (children, adolescents and young adults) whose incidence is estimated, annually in Spain, at approximately one case per million inhabitants (between 45 and 50 people affected per year). According to Dr. Ana Patiño, this pediatric cancer is very aggressive. "Although treated early it responds very satisfactorily, when the patient develops metastases, the prognosis changes radically, with a very poor survival," she says. The Clínica Universidad de Navarra is one of the European hospital centers of reference letter in the research and therapeutic management of this tumor. In fact, the survival rate obtained in this hospital center in the treatment ofEwing's sarcoma is 65%.

research European

The relevance of the Clinic in the treatment and research of this rare bone tumor arises from its historical trajectory "in the centralization of this subject of patients for treatment, which is why it is a center of reference letter in clinical, oncological and molecular management of Ewing's sarcoma and has a very extensive series of cases, despite the fact that it is a rare disease. Thanks to this tradition, we have samples of genetic material, tumor tissue and peripheral blood samples from affected patients, which has allowed us to develop numerous programs of study on the disease," says the researcher.

The European study in which the Clinic has participated is led by Dr. Olivier Delattre, researcher principal, belonging to INSERM (Institut Curie et Centre de Recherche de Paris), whose team already started with previous results obtained from a series of more than 500 cases. To validate these findings, Dr. Delattre requested partnership from other European centers of reference letter in the study of Ewing's sarcoma, hence the Clinic's participation in the research.

Risk markers of the disease

Ewing's sarcoma is one of the two types of sarcomas that occur in pediatric patients. It is mainly characterized "by being a tumor that settles in the bone, but whose origin is neuroectodermal (it is not strictly speaking a bone tumor, but arises from primitive neural tissue, but is located in the bone)," describes Dr. Patiño, for whom this is a differential aspect of pediatric sarcoma.

Initially, the French study, led by Delattre, has analyzed a very large series of more than 500 of its own cases. "Using their control group , the Parisian team has identified two genetic biomarkers of risk at development of the tumor, one on chromosome 1 and the other on chromosome 10." However, to give it scientific solidity, they have validated their findings with the series of other European centers,"which constitute a reference letter in the study of sarcomas and which already have their own extensive series of cases of this tumor studied". In this way, they contacted researchers from French, Italian, German, English, Austrian and two Spanish centers, one of them at the Clinic.

In Caucasian individuals

The delimitation to the European geographical environment has been essential to validate the data of this study, since another of the findings of Dr. Olivier Delattre's study is "the very low incidence of this sarcoma subject in non-Caucasian individuals", warns the specialist. Although in European and American countries, with a majority Caucasian population, the prevalence of Ewing's sarcoma is leave, "in non-Caucasians - Africans and Asians - it is practically non-existent. There are hardly any cases of this tumor in these populations", she indicates.

Despite the confirmation of the important data published in the latest edition of "Nature Genetics", Dr. Patiño stresses "the need to continue research and to join international efforts in the next programs of study, given the low prevalence of Ewing's sarcoma", if progress is to be made in the knowledge of this cancer. "More information on these tumors and on the individuals who suffer from them will translate into a greater knowledge of the disease and, therefore, into a greater probability of developing effective treatments in the future", concludes the specialist.

reference letter from article of Nature Genetics.